In May 2023, former health minister Lord James OShaughnessy acknowledged in a report that there were many issues with the UKs clinical trial industry. The report showed that the country fell from fourth to tenth globally for trial initiation, with a big drop in the number of Phase III trials initiated.

At the same time, the UKs National Health Service (NHS) has been under extreme pressure with staffing woes, including the recent junior doctor strikes and financial difficulties impeding clinicians ability to participate in research, especially in more demanding cell and gene therapy trials.

With a snap general election now looming on 4 July and the NHS being one of the top concerns for voters, it is more important than ever for political parties to set out their manifesto including how they are going to facilitate research and support the NHS.

The UK Conservative government has tried to improve the countrys ability to develop cell and gene therapies, with a $10m grant in March 2023 for the NHS Blood and Transplant (NHSBT) to open a facility to develop and manufacture new gene and cell therapies called the Clinical Biotechnology Centre (CBC).

Funds have also been provided to several companies through the Life Sciences Innovative Manufacturing Fund (LSIMF) grants, including 151m for Pharmaron and 14m for Touchlight for cell and gene therapy development and manufacturing.

On top of all this, the UKs National Institute for Health and Care Research (NIHR) has announced a 17.9m investment in the Advanced Therapy Treatment Centre Network (ATTC Network).

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A year on from Lord OShaughnessys report and despite the governments investment in the industry, the UK is still struggling to contribute to cell and gene therapy trials says haematologist and chief medical officer of stem cell charity Anthony Nolan Dr Robert Danby. Danby speaks exclusively to the Clinical Trials Arena about the difficulties facing the NHS in contributing to cell and gene therapy research.

Robert Danby (RD): The UK Government has committed to implementing all of Lord OShaughnessys recommendations, and we have seen some progress in the year since. Average trial approval and set-up times have been reduced. The number of people taking part in industry clinical studies is rising. According to the Department of Health and Social Care, 82% of commercial studies are on track.

Despite this, there is still more work to do. A thriving clinical research environment depends on an NHS that has the resources and workforce to support it with trials relying on the UKs network of clinicians, nurses, allied health professionals, statisticians, data managers, and more.

But as organisations such as Cancer Research UK have pointed out, were still a long way from NHS staff having the capacity to prioritise research. A survey of health care professionals revealed nearly four in five clinical researchers described lack of capacity as a substantial or extreme barrier to their work. It means clinical research is at risk of being seen as a nice-to-have, rather than an essential mechanism for bringing new and potentially life-saving therapies to the UK.

The OShaughnessy review said less about tackling the barriers patients face to getting onto a clinical trial. We need to think more ambitiously about the diversity of trial participants, to ensure no groups miss out on the potential improvements to care they offer. We also need to see investment in the real-world data landscape that can play such a pivotal role in advanced cell and gene therapies research.

RD: While we have seen commercial trial capacity increase in the last year, cell and gene therapies present additional research challenges that require a concerted effort to overcome. As a haematologist and in my work at Anthony Nolan, I see this close up.

Blood cancers and other haematological disorders are at the forefront of the oncoming wave of new cell and gene therapies. With over 50 years experience in cell therapies, both allogeneic and autologous haematopoietic cell transplantation, haematology is one of the few medical fields with the necessary skills and expertise to deliver clinical research into these potentially transformative treatments.

But the UKs haematology departments are not yet equipped, or resourced, to deliver this next wave. For example, cell and gene therapies are reliant on apheresis technology to collect the cells which form the basis of new engineered treatments. But current infrastructure is struggling to cope with basic clinical needs for standard indications, never mind additional requirements for therapy development.

Challenges to recruit to cell and gene therapy trials and rigorous regulatory pathways also contribute to the strain faced by NHS teams expected to deliver both basic care and clinical research. And as cell and gene therapy trials move into other areas of medicine like solid cancers or autoimmune diseases, there will need to be a massive increase in resources, training, and education across the breadth of the NHS.

In order to sustain the development of future cell and gene therapies, long-term investment into NHS capacity, education and training is essential. A more streamlined journey from research to regulatory approval and implementation, that is appropriate for the specific requirements of cell and gene therapies, is also needed.

RD: Brexit has compounded many of the issues affecting the UKs position in the global clinical research market. In my field of haematology, the well-recorded loss of NHS and academic staff due to Brexit has had major implications on our ability to carry out not only day-to-day care but also clinical research.

Weve also heard that differences in the regulatory framework and bodies between the UK and Europe post-Brexit have made the industry reluctant to start trials in the UK because implementation into routine care use looks too time-consuming and challenging.

RD: Accelerating Clinical Trials (ACT) is an innovative self-sustaining model to facilitate the delivery of clinical trials for blood cancers and blood disorders.

The ACT operational hub provides services to industry-sponsored commercial trials including access to a national network of recruitment sites, clinical research expertise and operational support and reinvests the income into non-profit academic investigator-led trials.

The OShaughnessy review highlighted that in its first 12 months, ACT attracted investment from two international pharmaceutical companies to deliver practice-informing blood cancer trials. With the income, ACT works with two major national trial acceleration networks which have recruited more than 2,500 patients in recent years, to the benefit of both patients and the UK life sciences sector.

Earlier this year, Anthony Nolan announced its 1m investment into the programme.

RD: We recognise we are seeing a revolution in cell and gene therapies, and the opportunity in the UK is huge. Our nationalised health care system, with strong links to academia, and healthcare data mean there is enormous potential for UK patients to be some of the first to benefit from these innovative and potentially curative therapies. But only if we act now to address issues in NHS capacity, invest in world-leading data systems and simplify the pathway to therapy implementation.

Editorial content is independently produced and follows thehighest standardsof journalistic integrity. Topic sponsors are not involved in the creation of editorial content.

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NHS investment critical to drive cell and gene therapy research - Clinical Trials Arena

Recommendation and review posted by Bethany Smith

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DALLAS May 23, 2024 A new study focused on the gene tied to a rare form of autism spectrum disorder (ASD) called FOXP1 syndrome offers hope that gene therapy might be able to help patients with this condition.

Genevieve Konopka, Ph.D., is Professor of Neuroscience and an Investigator in the Peter O'Donnell Jr. Brain Institute at UTSouthwestern. Dr. Konopka is a Jon Heighten Scholar in Autism Research and holds the Townsend Distinguished Chair in Research on Autism Spectrum Disorders.

In a study published in Science Advances, researchers from UT Southwestern Medical Center found that using gene therapy to restore the Foxp1 gene to adult mice from which it had been deleted before birth restored the activity of other genes whose levels are controlled by Foxp1. This intervention also corrected some abnormal behaviors characteristic of mice that lack Foxp1. The findings could shed light on other forms of ASD as well.

The ability to partially remedy brain pathway changes at later developmental stages suggests that gene therapy may be effectively applied in FOXP1 syndrome and actually normalize symptoms, said Genevieve Konopka, Ph.D., who co-led the study with Jay Gibson, Ph.D. Both are Professors of Neuroscience and Investigators in the Peter ODonnell Jr. Brain Institute at UT Southwestern.

Jay Gibson, Ph.D., is Professor of Neuroscience and an Investigator in the Peter O'Donnell Jr. Brain Institute at UTSouthwestern.

About 200 individuals worldwide have FOXP1 syndrome, a genetic condition caused by mutations in the FOXP1 gene that render it nonfunctional. Along with intellectual deficits, developmental delays, and other symptoms, people with this disease also tend to have ASD or exhibit autistic behaviors. But how the loss of FOXP1 contributes to these symptoms has been unclear, Dr. Gibson explained.

A key circuit thats disrupted in FOXP1 syndrome connects regions of the brain called the cortex, thalamus, and striatum. To better understand FOXP1s involvement in this circuit, Drs. Konopkaand Gibson and their colleagues used a technique to delete this gene in mice in two populations of neurons in the striatum, which receives inputs from both the cortex and thalamus through a chemical called glutamate. Glutamate causes these neurons to fire when its taken up at structures called synapses that connect neurons.

In one population of neurons, the deletion altered the functions of thousands of other genes and caused changes in neuronal responses as well as significant differences in behavior; the animals had problems building nests and spent more time on the edges of their enclosures. When the researchers used a genetic technique to reinstate Foxp1, this intervention normalized how neurons responded to glutamate and restored activity in 78 genes, most known to function in neural synapses. It also normalized some behaviors, such as nesting and time spent in enclosures.

Further study of this gene and the thousands of other genes it regulates couldidentify new targets for pharmaceuticals to treat this condition. Because some of these genes have also been implicated in other forms of ASD, continuing to study FOXP1 could lead to a better understanding and potential treatments for ASD in general, Dr. Konopka noted.

Other UTSW researchers who contributed to this study are first author Nitin Khandelwal, Ph.D., Instructor of Neuroscience; Ashwinikumar Kulkarni, Ph.D., Assistant Professor of Neuroscience; and Matthew Harper, M.S., Research Associate.

Dr. Konopka is a Jon Heighten Scholar in Autism Research and holds the Townsend Distinguished Chair in Research on Autism Spectrum Disorders.

This study was funded by grants from the National Institute of Mental Health (MH126481 and MH102603), the National Institute of Neurological Disorders and Stroke (NS126143 and NS115821), the James S. McDonnell Foundation 21st Century Science Initiative in Understanding Human Cognition Scholar Award (220020467), and the Simons Foundation (573689).

About UTSouthwestern Medical Center

UTSouthwestern, one of the nations premier academic medical centers, integrates pioneering biomedical research with exceptional clinical care and education. The institutions faculty members have received six Nobel Prizes and include 25 members of the National Academy of Sciences, 21 members of the National Academy of Medicine, and 13 Howard Hughes Medical Institute Investigators. The full-time faculty of more than 3,100 is responsible for groundbreaking medical advances and is committed to translating science-driven research quickly to new clinical treatments. UTSouthwestern physicians provide care in more than 80 specialties to more than 120,000 hospitalized patients, more than 360,000 emergency room cases, and oversee nearly 5 million outpatient visits a year.

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UTSW study sheds light on rare form of autism - UT Southwestern

Recommendation and review posted by Bethany Smith

Cell and gene therapy research is crucial for biopharma development, with HiFi long-read sequencing significantly enhancing many sequencing applications throughout the process. Even though AAV sequencing is one of the newest applications of genomics, it is also one of the most promising in disease research today. Adeno-associated virus (AAV) ranks among the most actively experimented upon vehicles for gene therapy.1 Gene therapies using AAV and cell therapies like CAR-T hold the potential to cure previously incurable diseases. CAR-T cell cancer treatments, in particular, are showing great promise in combating this devastating illness. In 2023, the FDA approved several new AAV-based therapies and cell-based gene therapies for treating Duchenne muscular dystrophy, severe hemophilia A, and sickle cell disease.2,3,4

The design of AAV vectors has consequences on gene therapy research, which could be the last stand in the fight against these diseases, and maybe many more. Highly accurate long-read sequencing supports the investigation into design, validation, and optimization of potential gene therapies using such viral vectors.

This is the final episode in our six-part myth-busting series. Today, were debunking common misconceptions about PacBio HiFi sequencing in cell and gene therapy research.

PacBio HiFi sequencing is too expensive to use when developing and assessing or optimizing gene therapy product design, efficacy and potential safety.

This statement is misleading.

Vector design plays a crucial role in gene therapy development success. In cell and gene therapy, where safety is paramount and R&D takes notoriously long, unexpected errors can quickly derail years of work, potentially delaying lifesaving therapies for those who need it. Fullyand accuratelycharacterizing your AAV product can mean reducing the risk of extremely costly failures during clinical trials.

Understanding the full extent of on- and off-target editing, vector or construct integration, and insertional mutagenesis are key components of validating AAV product design and ensuring its manufacturability. Using the exceptional accuracy and lengths of HiFi reads means that you can be confident in your product designs and avoid surprises down the line that require you to go back to the drawing board.

For more, read our best practices for gene therapy product characterization using HiFi sequencing with Dr. Claire Aldridge at Form Bio.

PacBio long reads are only good for de novo genome assemblies.

This statement is incomplete.

HiFi reads are good for assembling genomes, its true, but they can do so much more.

Count cell and gene therapy research are among the many applications you can do with HiFi sequencing. Whether its full-length AAV sequencing, gene editing assessments, plasmid or amplicon library screening, or vector integration, the winning combination of >20 kb reads and 99.9% accuracy with HiFi allows you to detect variants or events that short-read sequencing would miss.

You can use HiFi sequencing for every research stage of AAV gene therapy development:

Discover AAV vectors: discover novel capsids with targeted sequencing Optimize AAV vector design: improve designs by observing the frequency of truncations, fragmentation, and other non-full-length anomalies Confirm mRNA transcripts: quantify isoforms with full-length isoform sequencing Study host integration: understand the frequency of these events, to ensure the potential safety and efficacy of your product Ensure quality in AAV production: compare vectors and unresolved genomes and assess vector preps produced by different platforms

Read more about what you can do with highly accurate HiFi reads for AAV sequencing.

And what about gene editing? HiFi sequencing can power your gene editing research by enabling you to:

Sequence beyond your target to fully understand the extent of CRISPR-Cas9 editing Assess indels and other mutations that result from gene insertion at a CRISPR target locus Detect rare off-target mutations Understand the effects of haplotype and SNVs on gene editing in cases of allele-specific Cas9 cleavage Avoid PCR biases and limitations by using amplification-free approaches

Read more about what you can do with highly accurate HiFi reads for gene editing research.

Accuracy isnt that important for characterizing AAV impurities, such as partial genomes.

This statement is false.

Accuracy is imperative in all areas of science, and the stakes are arguably even higher in cell and gene therapy research, where clinical trials, patient outcomes, and life-changing therapeutics are on the line.

With highly accurate HiFi long reads, you can assess your AAV for impurities, like partial genomes, while at the same time getting critical information about sequence identity. PacBio HiFi sequencing unites the advantages of long reads with Sanger-level accuracy. This means you can monitor and improve AAV discovery and manufacturing with a single technology, reducing the risk of costly failures, which can set development timelines back by months or even years.

Missing crucial information about the quality of your vector can impact the effectiveness of your design. Hear how biopharmaceutical researchers at Homology Medicines are using highly accurate HiFi reads to discover novel vectors and improve their vector designs in this on-demand webinar.

Pairing nanopore with short-read sequencing is the easiest way to characterize AAVs from inverted tandem repeat (ITR) to ITR.

This statement is short-sighted.

Neither ONT nor short-reads can fully resolve ITRs and additional bioinformatics alignment work is necessary when using short reads. Why run multiple assays when you can do it better in one? Highly accurate long-read sequencing combines the accuracy and read length that you need in one experiment. Never again throw away reads because accuracy is too low or because they are too short to align. In addition, long-read sequencing with HiFi reads support a broad menu of applications that are critical for cell and gene therapy product design and development, including:

AAV sequencing Amplicon-based construct screening Gene editing and on- and off-target assessment Full-length plasmid sequencing Vector integration RNA sequencing Whole-genome sequencing

AAV is complex and difficult to sequence using PacBio HiFi sequencing.

This statement is incorrect.

PacBio and our partners at Form Bio offer an end-to-end workflow for AAV sequencing and data analysis, in an all-in-one solution to optimize your AAV vector designs. This workflow accommodates both ssAAV and scAAV sequencing using the same protocol. Form Bio workflows are certified PacBio compatible and provide analysis software to help you analyze and visualize your AAV data, so you can save time and resources.

With this protocol, you can use HiFi reads to:

Sequence tissues for novel AAV vector discovery Improve vector design Identify impurities, truncation events, and host integration events

See how HiFi sequencing makes it easy to sequence AAV genome populations to identify truncation, mutation, and host integration events.

As weve shown here and throughout our myth-busting series PacBio HiFi sequencing can benefit almost any genomics application by virtue of its long read lengths and exceptional accuracy. Leave those dated misconceptions in the past and start using the power of HiFi sequencing to fuel tomorrows groundbreaking discoveries.

Did you miss the other installments in our myth-busting series? Dont worry, you can catch up here:

Part 1 HiFi sequencing Part 2 human genomics Part 3 cancer genomics Part 4 plant and animal genomics Part 5 microbiology

Are there any other myths about long-read sequencing that you want busted? Let us know! Speak with a PacBio scientist to find out what you can do with HiFi sequencing.

Learn more

More here:
Long-read sequencing myths: debunked. Part 6 cell & gene therapy - Pacific Biosciences

Recommendation and review posted by Bethany Smith

This years prize carrying a gold medal and a $1.2 million award is shared by Stuart Orkin, MD, a researcher at the Dana-Farber/Boston Childrens Cancer and Blood Disorders Center, and Swee Lay Thein, PhD, senior investigator and chief of the sickle cell branch of the National Heart, Lung, and Blood Institute at the National Institutes of Health.

Their work unveiled the genetic and molecular mechanisms underlying the transition in the production of fetal to adult hemoglobin. These discoveries led to work that culminated in the development and approval of Casgevy (exagamglogene autotemcel), the first gene-editing therapy based on CRISPR/Cas9 to be approved for SCD and transfusion-dependent beta thalassemia, a related blood disorder.

Receiving The Shaw Prize is an honor and a testament to the dedication of countless researchers who have contributed to our understanding of hemoglobin regulation over the years, Orkin, who is also a professor of pediatrics at Harvard Medical School, said in apress release from Boston Childrens.

This recognition underscores the potential of our findings to revolutionize the treatment landscape for sickle cell anemia and [beta] thalassemia, offering new hope to patients worldwide, Orkin added.

Often referred to as the Nobel of the East, the prize recognizes scientists who have made striking contributions to research. It was established in 2002 by Run Run Shaw, a philanthropist. To date, 41 individuals have been named Shaw Prize Laureates in Life Sciences and Medicine. There also is a Shaw Prize in Astronomy, and one in Mathematical Sciences.

This years science winners were recognized for their transformative research (Thein) and elegant work (Orkin), according to a Shaw Prize webpage highlighting their careers.

Over the course of their distinguished careers, Swee Lay Thein and Stuart Orkin each made wide-ranging, independent contributions to the analysis of blood cell disorders. Their work intersected when they made complementary and reinforcing discoveries that led to the development of a therapy to treat sickle cell disease and [beta] thalassemia, the webpage states.

Several versions of hemoglobin, the protein that carries oxygen in red blood cells, can be found in the human body. As its name suggests, fetal hemoglobin is produced while a baby develops in the womb. This version of hemoglobin is replaced after birth by an adult form of the protein that is less effective at transporting oxygen throughout the body.

The production of these different versions of hemoglobin is controlled by different genes. The HBB gene, which contains instructions for making a subunit of adult hemoglobin, is mutated in SCD, resulting in the production of a faulty version of the adult form of the protein. Conversely, the HBG gene, which provides instructions for making a component of fetal hemoglobin, is not affected by SCD-causing mutations.

One of the therapeutic strategies that can be adopted to ease the severity of SCD and beta thalassemia is to reactivate the production of fetal hemoglobin an approach that came on the heels of both Orkins and Theins discoveries.

Theins research led to the identification ofthe BCL11A gene as a regulator of fetal hemoglobin production. Follow-up work by Orkin confirmed the BCL11A protein was involved in the process of shutting off the production of fetal hemoglobin after birth a discovery that has rendered him the recipient of several other awards.

These findings led scientists to postulate that reducing BCL11A levels could boost the production of fetal hemoglobin, which in turn would compensate for the faulty or deficient version of the adult form of the protein in SCD and related blood disorders. Such a mechanism is the rationale behind the gene-editing therapy Casgevy, approved in the U.S. earlier this year.

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Shaw Prize awarded to 2 scientists for work in SCD gene therapies - Sickle Cell Disease News

Recommendation and review posted by Bethany Smith

Scientists at the Broad Institute of MIT and Harvard have engineered a harmless adeno-associated virus (AAV) that can efficiently reach the brain, potentially improving the efficacy of brain-targeted gene therapies for neurological conditions such as Huntingtons disease.

Current AAVs that deliver gene therapies to cells in the body via injection into the bloodstream cannot efficiently cross the blood-brain barrier (BBB), the highly selective membrane that regulates what substances from the bloodstream can access the central nervous system (CNS), which consists of the brain and spinal cord.

In a mouse model modified to produce the human version of an important BBB protein, the newly engineered AAV was more widely distributed across the brain and more effective at delivering a gene therapy to brain cells than AAV serotype 9, which is used in an approved CNS-targeted gene therapy.

The study, An AAV capsid reprogrammed to bind human transferrin receptor mediates brain-wide gene delivery, was published in Science.

Since we came to the Broad weve been focused on the mission of enabling gene therapies for the central nervous system, Ben Deverman, PhD, the studys senior author and director of vector engineering at the Broads Stanley Center for Psychiatric Research, said in an institute press release. If this AAV does what we think it will in humans based on our mouse studies, it will be so much more effective than current options.

Ken Chan, PhD, one of the studys first co-authors and group leader in Devermans group, said the AAVs have the potential to change a lot of patients lives.

In Huntingtons, defects in the HTT gene lead to toxic clumps of the huntingtin protein, which are thought to damage various parts of the brain, triggering the onset of symptoms.

Gene therapy, which works by delivering to cells genetic material meant to counterbalance a genetic defect, can potentially treat disorders caused by mutations in a single gene, such as Huntingtons.

Most of these therapies use modified, harmless AAVs to deliver the therapeutic cargo to cells. However, current AAVs cannot efficiently cross the BBB, which protects the brain from harmful substances in the blood while allowing essential nutrients and certain molecules to pass through.

To address these limitations, the researchers engineered an AAV that binds to the transferrin receptor (TfR1), a cell surface protein that is highly present in the human BBB and is an established target of antibody-based therapies designed to reach the brain.

To find such a virus, they first screened large AAV libraries in test tubes. Top candidates were then tested in cells and mice (in vivo) modified to produce human TfR1. Screening against a human protein in mice was done to improve the chances that gene therapies using these AAVs would work in human patients.

Weve learned a lot from in vivo screens but it has been tough finding AAVs that worked this well across species, said research scientist Qin Huang, PhD, the other co-first author of the study. Finding one that works using a human receptor is a big step forward.

Injecting the top AAV candidate, called BI-hTFR1, into the bloodstream of TfR1-modified adult mice dramatically increased levels of the AAV in the CNS compared with unmodified mice. This demonstrated that the AAV was indeed crossing the BBB by binding to human TfR1.

In different brain regions, BI-hTFR1 reached up to 71% of nerve cells and 92% of astrocytes, specialized cells in the brain that provide support to nerve cells.

The team then compared BI-hTFR1 with AAV9, an AAV used as a delivery vehicle for Zolgensma (onasemnogene abeparvovec-xioi), a gene therapy approved for the neuromuscular disorder spinal muscular atrophy.

They found that BI-hTFR1 levels in brain tissue were up to 50 times higher than those of AAV9.

As a model for gene therapy, researchers used the new AAV to deliver a healthy copy of the human GBA1 gene, which encodes an enzyme called beta-glucocerebrosidase, to the modified mice. Mutations in this gene cause Gaucher disease and are linked to Parkinsons disease.Both of those are neurological conditions.

Compared with AAV9, BI-hTFR1 delivered 30 times more copies of the GBA1 gene to brain cells and substantially increased the beta-glucocerebrosidase activity in the brain and cerebrospinal fluid, which surrounds the brain and spinal cord.

When we think about gene therapy for a whole-brain disease you need really systemic delivery and broad biodistribution in order to achieve anything, said Eric Minikel, PhD., senior group leader at the Broad. Naturally occurring AAVs just arent going to get you anywhere, Minikel said. This engineered [AAV] opens up a world of possibilities.

In addition to targeting a human protein, the fact that BI-hTFR1 has a similar production yield to AAV9 using scalable manufacturing methods makes it ideal for CNS-targeting gene therapy, the researchers noted.

Researchers at Apertura Gene Therapy, a biotech company co-founded by Deverman, are already developing new CNS-targeting gene therapies using the new AAV.

The scientists believe that further research can help improve the AAVs gene-delivery efficiency to the CNS, the institute said. It may also help reduce AAV accumulation in the liver, and prevent their inactivation by antibodies in some patients two known complications of current viral-based gene therapies.

Read more:
New viral carrier shows promise for brain-targeted gene therapies - Huntington's Disease News

Recommendation and review posted by Bethany Smith

The traditional randomised controlled trial (RCT) model has been used for decades in drug development. Although it is considered the gold standard of trial designs, sponsors are increasingly using alternative trial designs, especially those for developing cell and gene therapies.

The unique nature of cell and gene therapies, how they are administered, the complex dosing schedule, and the specialised patient population can make it difficult to use a traditional RCT model.

Innovative trial designs, like single group assignment, adaptive, basket, umbrella and platform trials, allow flexibility to be built into a trial, which experts describe as crucial in running cell and gene therapy trials.

Chief medical and scientific officer at UK stem cell charity Anthony Nolan, Dr. Robert Danby, said: Prospective RCTs have traditionally been the gold standard to evaluate the efficacy and safety of new therapies. For emerging cell and gene therapies, modern trial techniques like adaptive trials offer a promising alternative. These modern trial designs could offer patients new and better treatments sooner and do this without compromising on the quality of data required for new therapies to be approved.

Despite data showing cell and gene therapy trials continue to be designed as RCTs, there is agreement amongst the industry professionals that RCTs may not be the best model, says Dr. Odelia Chorin, rare disease paediatrician and clinical geneticist at the Safra Childrens Hospital, Sheba Medical Center.

GlobalDatas Pharmaceutical Intelligence Centre shows that the single-group assignment trial design is by far the most used approach for cell and gene therapies.

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The main reason for using alternative trial designs is to ensure trials are providing robust and interpretable data, says Amy Raymond, PhD, Executive Director Therapeutic Strategy Lead, Cellular and Genetic Medicines, at contract research organisation (CRO) Worldwide Clinical Trials.

While single assignment trials have been the leading design in cell and gene therapy trials in the past decade, Erin Griner PhD, associate director in clinical research methodology at Worldwide Clinical Trials says she is mostly seeing adaptive designs being used by sponsors.

The thing that everybody in the process wants is optimal, efficient data, but the question is how do we get there? Raymond asks.

Ultimately, the design is heavily influenced by the specific characteristics and requirements of both the therapy and the patient population rather than the indication itself, explains Neta Shanwetter Levit, Clinical Operations Lead, PhaseV, a company that develops machine learning (ML) technology to optimise clinical trial design and analysis.

We are seeing a gradual increase in the number of adaptive trials and basket trials. Platform trials are not as frequent in this area yet, but are starting to increase, Shanwetter added.

Dr. Beatrice De Vos, chief medical officer for EXO Biologics, a biotech developing exosome-based cell therapies, said that the flexibility to change protocols is the most helpful element of alternative trial designs, especially at early stages.

The data collected in an adaptive trial is impacting the development immediately, impacting your next steps in clinical trial phases. That is different to the classic model, so I am very much in favour of the adaptive design, De Vos added.

There is some differentiation between the choice of trial designs based on the indication. GlobalDatas Pharmaceutical Intelligence Centre shows following single assignment and RCTs are more common in oncology studies than in other indications while adaptive trials are mostly used to study treatments for genetic disorders.

The challenges in rare disease studies are the limited patient population and the scarce data, Shanwetter said. Therefore, adaptive trials are particularly useful in rare diseases due to their flexibility. Basket trials are frequently used in oncology to test therapies targeting specific genetic mutations across different types of cancers.

Griner agrees saying the basket trial design is used more often in oncology trials.

Despite it being difficult to randomise a gene therapy trial, in ophthalmology, sham controls are commonly used, Raymond says. But synthetic controls are also more commonly used in oncology while rare diseases are often studied in open-label trials and biomarkers are used to measure endpoints, she adds. Chorin agrees that given the lack of comparator, the industry needs to use biomarkers to measure clinical change.

Given how many different types cell and gene therapies, the design of a trial should be tailored on a drug-by-drug basis and there isnt a one-size-fits-all solution, says Shanwetter.

Another benefit of alternative designs is they allow sponsors to compare the treatment arm with real-world or natural history data using synthetic arms.

Natural history data is collected from patients who received no intervention and allows investigators to have a baseline to measure the drugs efficacy. Such approaches have been used in notable gene therapy approvals, Raymond said.

Zolgensma [pivotal trials] used natural history data as a control, which saw the PIs coming together and doing that research. That in my opinion is what really enabled this gene therapy trial to succeed was using that baseline comparison, Raymond explained.

Novartis gene therapy Zolgensma (onasemnogene abeparvovec) was approved for treating spinal muscular atrophy (SMA) in May 2019.

The ability to use existing data as a control is particularly helpful in rare disease trials where there are few patients, which often leads to trials being terminated due to low recruitment. Additionally, patients also might be more willing to participate if they know they will receive the study drug, Griner adds.

For some rare diseases, we are seeing 80% to 90% of patients being willing to try a gene therapy that is as yet unproven because it gives them some hope. Having a trial design that is an open-label study really increases interest and as a result recruitment, Griner adds.

De Vos says it is possible to match historical data to a degree that is similar to classical placebo, but acknowledges in statistical terms, it is not a head-to-head comparison. De Vos says EXO Biologics is running a Phase I/II trial (NCT06279741) of using a single group assignment design. The Phase I portion of the trial, which is evaluating EXOB-001, an exosome-based cell therapy for premature babies with bronchopulmonary dysplasia, is using natural history data as a comparator while the Phase II stage will be a standard RCT model.

The only challenge with using natural history data as a control, Griner explains, is that in some diseases there is very little available.

Overall, Griner says that agencies have been supportive of studies with alternative designs, adding that the US Food and Drug Administration (FDA) has also released guidance on confirmatory evidence.

De Vos said that there is also guidance available in Europe but that it should be read very carefully. [However] having gone through all these guidelines, companies should not refrain from coming up with new designs, rather than sticking to the old fashioned ones to extract the most out of their observation in terms of new product development, De Vos concluded.

Raymond says the FDA and EMA are often aligned, but not always, recalling instances where a trial has required region-specific protocols, and in some cases region-specific primary endpoints.

One thing the regulators need to be looking at is having a more unified framework with alternative trial designs. Its not a small ask but it should be a real priority as it would be helpful to the industry as a whole, Raymond concluded.

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Flexibility of alternative trial designs crucial for cell and gene therapy research - Clinical Trials Arena

Recommendation and review posted by Bethany Smith

According to latest study, the global cell & gene therapy bioanalytical testing services market size was estimated at USD 585.19 million in 2023 and is projected to hit around USD 1,194.92 million by 2033, growing at a CAGR of 7.4 % during the forecast period from 2024 to 2033.

The emergence and proven efficacy of novel modalities such as cell and gene therapies have significant growth in the pharmaceutical industry. This growth is derived by substantial investments from drug developers, particularly in areas like rare diseases and immune oncology, where these therapies have demonstrated notable success.

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Cell & Gene Therapy Bioanalytical Testing Services Market Overview

The rapid growth of the cell and gene therapy bioanalytical testing services market is driven by the potential of these therapies to revolutionize treatment across a spectrum of diseases, from cancer to genetic deficiencies. This innovation necessitates new considerations for clinical testing, prompting biopharmaceutical developers to seek quality laboratory testing partners or subject matter experts (SMEs) to navigate the unique challenges of bioanalytical testing in this domain. Such partnerships are essential for driving innovation and ensuring successful development programs as they progress towards regulatory approval.

Gene and cell therapies, utilizing viral or non-viral vectors, present distinct challenges, with gene therapies classified into gene correction, gene editing, and oncolytic virus therapies, while cell therapies encompass adoptive cell and stem cell therapies. Consequently, specialized expertise in CGT solutions and services is crucial, particularly in areas like pharmacokinetics (PK), immunogenicity, and pharmacodynamics (PD) biomarker analysis, where advanced techniques and meticulous care are paramount.

Cell & Gene Therapy Bioanalytical Testing Services Market Key Takeaways

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Cell & Gene Therapy Bioanalytical Testing Services Market Dynamics

Driver

Increasing research and development

The increasing growth of gene and cell therapies in treating previously incurable diseases is the beginning of a transformative era in healthcare. With pharmaceutical companies heavily investing in research and development to unlock the full potential of this field, a surge of new gene and cell therapy products is entering early development stages. Rising trends in research, product releases, and patent applications becomes crucial for identifying global innovation patterns and seizing commercial opportunities. As companies strive to make informed decisions about resource allocation, the demand for specialized cell and gene therapy bioanalytical testing services is escalating. These services play a vital role in ensuring the safety, efficacy, and regulatory compliance of innovative therapies, thus driving the growth of this dynamic market segment.

Restraint

Scalability Challenges

The scalability of cell and gene therapy manufacturing emerges as a pivotal challenge hindering market growth. Manual labor-intensive processes contribute to time and cost inefficiencies, making manufacturing both laborious and expensive. Intricate nature of these therapies, their production remains notoriously costly, thereby limiting accessibility for patients and impeding scalability. The cell and gene therapy bioanalytical testing services market experience constraints as the industry grapples with overcoming these scalability hurdles.

Opportunity

Evolution of Cell and Gene Therapy

The gene editing techniques and transgene delivery systems is revolutionizing patient care, with promising outcomes across various disease domains, including rare diseases and challenging cancers. As the gene and cell therapy field continues to evolve, scientists recognize the need for personalised quantitative measurements specific to their drug programs. This demand for advanced analytics extends beyond traditional methods like chromatography and ligand binding assays. An opportunity arises for the cell and gene therapy bioanalytical testing services market to meet the evolving needs of drug developers by offering innovative solutions and cutting-edge technologies, thereby facilitating further advancements in this burgeoning field.

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By Test Type

The bioavailability & bioequivalence studies dominated the market with a share of 35.22% in 2023, holding a significant share and poised for rapid growth in the forecast period. These studies play a critical role in assessing the in vivo biological equivalence of different proprietary preparations of a drug, ensuring consistency and effectiveness. Bioequivalence studies ascertain whether two pharmaceutical products are essentially interchangeable, while bioavailability studies measure the concentration of a drug in the plasma or blood over time following a systematic protocol. As pharmaceutical companies strive for quality assurance and regulatory compliance, the demand for these essential tests continues to escalate, driving growth in the market segment.

The pharmacokinetic segment is anticipated to experience significant growth throughout the forecast period. Pharmacokinetics, a pivotal field within pharmaceuticals, focuses on understanding how drugs move within the body and how the body interacts with these drugs. Through the application of terms, theories, and equations, practitioners can accurately estimate drug concentrations in various bodily regions. As the importance of pharmacokinetic testing continues to be recognized in drug development and clinical practice, the demand for these services is expected to rise steadily in the coming years.

By Stage of Development Product Type Insights

The non-clinical segment dominated the market with a market share of 66.12% in 2023 and is also expected to witness the fastest growth at a CAGR of 7.5% during the forecast period and poised for rapid growth in the forecast period within the Stage of Development Product Type category. These studies encompass a range of protocols, including animal studies conducted in accordance with Good Laboratory Practice (GLP) regulations. As pharmaceutical companies prioritize safety and efficacy in drug development, the demand for robust non-clinical studies is expected to continue its upward trajectory, driving growth in this market segment.

The clinical segment is poised for growth in the forecast period within the Stage of Development Product Type category. Clinical, comprising three key phases, serve as pivotal stages in the development of new medicines, ensuring their safety, efficacy, and optimal dosage forms before they can be approved for patient use. These are designed to determine the optimal dosage, formulation, safety profile, absorption characteristics, and therapeutic effectiveness of a drug. As pharmaceutical companies strive to bring innovative treatments to market while adhering to rigorous regulatory standards, the demand for clinical trial services is expected to increase, driving growth in this segment.

By Indication Insights

The oncology segment dominated the market and accounted for the largest revenue share of 49.85% in 2023, capturing the largest revenue share within the indication category. Cell and gene therapies represent a revolutionary approach in cancer treatment. These therapies operate by modifying the DNA of a patient's existing cells, providing them with new instructions to detect and combat cancer. By binding the inherent capabilities of the immune system, cell and gene therapies offer a promising avenue for more effective and personalized cancer treatment strategies. As research in this field continues to advance and more therapies gain regulatory approval, the oncology segment is expected to maintain its stronghold in the market.

The rare diseases segment is poised for rapid growth during the forecast period within the indication category. Cell and gene therapies have demonstrated notable efficacy, in addressing clinical indications associated with rare diseases. These therapies hold promise for patients with serious or life-threatening rare diseases by targeting the underlying cause of the condition, rather than merely alleviating symptoms. As research and development efforts continue to expand in this area and more therapies advance through clinical trials, the rare diseases segment is expected to experience significant growth, providing new hope for patients and caregivers alike.

By Product Type Insights

The cell therapy segment dominated the product segment market with a market share of 42.19% in 2023, capturing a significant market share. The potential applications of cell therapies are vast and encompass a wide range of medical conditions, including cancers, autoimmune diseases, urinary problems, infectious diseases, joint cartilage damage, spinal cord injuries, immune system deficiencies, and neurological disorders. Cell therapy encompasses a diverse array of approaches, including both stem cell- and non-stem cell-based therapies, as well as unicellular and multicellular therapies. As research and development in cell therapy continue to advance, fueled by promising clinical outcomes, the market for these innovative treatments is expected to witness sustained growth.

The gene-modified cell therapy segment is poised for the fastest growth during the forecast period within the product category. These therapies, often referred to as Ex Vivo gene therapies, involve modifying cells outside the patient's body and then reintroducing them to combat the disease, as seen in Chimeric antigen receptor T-cell (CAR T-cell) therapy for cancers. Gene-modified cell therapy entails precisely modifying cells ex vivo to enhance the patient's ability to fight the disease, representing a promising frontier in personalized medicine. As advancements in genetic engineering continue to drive innovation in this field, the gene-modified cell therapy market is expected to experience significant growth.

Regional Insights

North America dominated the cell & gene therapy bioanalytical testing services market and accounted for the largest revenue share of 40.56% in 2023, capturing the largest revenue share. Despite the FDA's approval of only a handful of gene therapy treatments, numerous ongoing studies indicate a burgeoning interest in this field. Gene therapy is currently under investigation for a wide array of diseases, including cancer, heart disease, cystic fibrosis, sickle cell disease, and haemophilia A. CAR-T cell therapies stand out as the primary technology utilized in the pipeline of genetically modified cell therapies, representing 52%, followed by a diverse range of technologies grouped under the "other" category at 27%. Notably, 97% of CAR-T cell therapies are focused on cancer indications, with a minority targeting non-oncology areas such as scleroderma, HIV/AIDS, and autoimmune disease. The robust pipeline of cell and gene therapies in the US underscores significant scientific advancements, raising questions about the extent to which these innovations will translate into tangible progress within the US healthcare system.

The Asia Pacific region is poised to experience the fastest CAGR of 7.8% growth in the cell and gene therapy sector during the forecast period. Recent developments in this space across countries like Singapore, China, South Korea, and Japan have been remarkable, with these nations emerging as dynamic hubs for pioneering research. Significant investments from governments and institutions have facilitated the establishment of state-of-the-art facilities and the adoption of cutting-edge technologies. As Asia Pacific continues to make strides in this field, it presents lucrative opportunities for collaboration and innovation in the global healthcare landscape.

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Cell & Gene Therapy Bioanalytical Testing Services Market Recent Developments

Cell & Gene Therapy Bioanalytical Testing Services Market Top Key Companies:

Cell & Gene Therapy Bioanalytical Testing Services Market Report Segmentation

This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2033. For this study, Nova one advisor, Inc. has segmented the Cell & Gene Therapy Bioanalytical Testing Services market.

By Test Type

By Product Type

By Stage of Development by Product Type

By Indication

By Region

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Cell & Gene Therapy Bioanalytical Testing Services Market Size to Hit USD 1.19 Bn by 2033 - BioSpace

Recommendation and review posted by Bethany Smith

PHILADELPHIA PA Greater Philadelphia has emerged as a powerhouse in the cell and gene therapy industry, housing almost 10 percent of the worlds companies in this rapidly expanding sector. A report commissioned by the Chamber of Commerce for Greater Philadelphia has revealed that this industry now provides employment to more than 7,000 people in the region.

Leading the Way: Cell and Gene Therapy in Greater Philadelphia, hailed as the most comprehensive regional snapshot of the sector, declares cell and gene therapy as a paramount economic catalyst for the region in the last decade. The area displays a rich blend of established and emerging businesses, leading research institutions, and an exceptional pool of industry talent that has collectively sparked a wave of economic prosperity and groundbreaking treatments for myriad diseases.

Chamber President and CEO, Chellie Cameron, is effusive about the regions role, noting, Greater Philadelphia is the top destination for those who wake with a mission to improve lives through cell and gene therapy treatments. The region offers everything that research companies, researchers, and their support teams would want, which is why we continue to make such great strides.

The report, compiled by economic research firm Ninigret Partners LLC and supported by a grant from the Knight Foundation, will serve as a beacon for community members, talent, policymakers, and practitioners seeking to advance parallel sector-specific growth strategies both locally and internationally.

John Churchill, Director, Philadelphia, Knight Foundation acknowledged the regions pioneering role in his statement: Greater Philadelphia is already a global leader in cell and gene advanced therapies and is poised to become one of the top innovation hubs in this field. This study aims to pinpoint the key factors and resources driving success.

Tracking back to the origins of cell and gene therapy discovery 25 years ago in Philadelphia, Claire Greenwood, Executive Director and Senior Vice President of Economic Competitiveness for the Chamber, observes how this mature ecosystem now includes a broad range of economic drivers. The report reveals Greater Philadelphia to be home to 60 of the estimated 500 cell and gene therapy companies worldwide. In addition, the region claims a top-ranking position for NIH funding in gene therapy and is a leader in translational science.

Furthermore, the region has seen a substantial influx of capital into life sciences companies. Since 2018, 547 life sciences companies in Greater Philadelphia have accumulated $18.7 billion through various financial avenues, with approximately $8 billion specifically related to cell and gene therapy.

In addition to the regions robust lineup of cell and gene therapy companies, the Greater Philadelphia ecosystem also showcases a well-developed supportive infrastructure. Recent additions include a Charles River CRADL facility, the entry of Mispro biotech services, the creation of the Cencora CGT Integration Hub, and the IBX Advanced Therapeutics Network.

The Chambers CEO Council for Growth and 11 partner companies, institutions, and universities launched the Cell & Gene Therapy and Connected Health Initiative in January 2019. The main objectives of this Initiative include shared storytelling, critical infrastructure development, talent assessment and attraction, and ecosystem scalability. Greenwood highlights that this new study will further enhance the innovative and collaborative approaches emanating from the Initiative.

As the Greater Philadelphia region continues to establish its dominance in the cell and gene therapy landscape, its clear that its synergistic blend of economic resources, research capabilities, and industry talent is driving both an economic boom and life-altering therapeutic developments. The implications of this include not only a thriving job market but also the promise of new treatments that could revolutionize healthcare for countless individuals worldwide.

For the latest news on everything happening in Chester County and the surrounding area, be sure to follow MyChesCo on Google News and Microsoft Start.

Originally posted here:
Greater Philadelphia Dominates Cell and Gene Therapy Landscape - A Beacon of Innovation and Employment - MyChesCo

Recommendation and review posted by Bethany Smith

Photo:VCG

The team led by Shao Zhicheng created a revolutionary cryopreservation method, dubbed MEDY, which preserves the structural integrity and functionality of neural cells, allowing for the preservation of various brain tissues and human brain specimens. This advancement holds immense promise not only for research into neurological disorders but also opens up possibilities for the future of human cryopreservation technology.

Professor Joao Pedro Magalhaes from the University of Birmingham K expressed profound astonishment at the development, hailing the technology's ability to prevent cell death and help preserve neural functionality as nothing short of miraculous. He speculated that in the future, terminally ill patients could be cryopreserved, awaiting cures that may emerge, while astronauts could be frozen for interstellar travel, awakening in distant galaxies.

The news has sparked fervent discussions on social media platforms, with many netizens drawing parallels to the concepts depicted in Chinese writer Liu Cixin's science fiction The Three-Body Problem. Interest in the feasibility of future human cryopreservation technology has surged, with individuals expressing a willingness to participate in human trials, eagerly anticipating awakening in a new era within robotic bodies.

"Now we just need a probe that travels at 1-percent speed of light, and can operate for thousands, millions of years on its own power while avoiding space debris, to reach the fleet of ships that's most of the way here already, as Three-Body Problem has illustrated," one netizen posted.

As the boundaries of possibility continue to expand, the realm of cryonics stands on the precipice of a profound transformation, offering glimpses into a future where the line between science fiction and reality grows increasingly blurred. Questions have also emerged as the boundaries expand: Will all the information and memory be indestructibly preserved too? Or, do we really have soul?

Global Times

Read the rest here:
Chinese researchers successfully revive human brain frozen for 18 months - Global Times

Recommendation and review posted by Bethany Smith

Words by Melissa Harvey

I might still be 25 in my head, but theres no avoiding the fact Im two decades older when I look in the mirror. In the last couple of years, things have definitely gone south (literally). The fine lines around my eyes are starting to look more like crevices, the wrinkles in my forehead dont soften however well rested I am and my skin seems permanently tired and dull. Though Ive always steered clear of Botox, Id started to wonder if I should bite the bullet and give it a go.

Then I heard about the space age-sounding epigenetic skincare. Epigenetics is the study of the way genes are controlled in the body including how lifestyle and environment can affect the way genes work. Unlike genetic changes, epigenetic changes can be stopped and even reversed and are thought to be responsible for 75% of the ageing process. Needless to say, beauty companies have been researching epigenetics for years in the hope of finally finding the ultimate anti-ageing holy grail.

Based in the US, ABG Lab has now developed the worlds first mesotherapy treatments that use this science to turn the clock back on ageing skin. Its launched four treatments at The Harley Street Skin Clinic in London which target mature skin cells with a range of intradermal injectables.

One (MesoEye C71) is designed to target dark circles and eye bags, another (MesoSculpt C71) breaks down fat cells to sculpt and define, smooth cellulite and tighten skin. A third (Meso-Xanthin F199) is best for polluted, damaged skin and photo-ageing and is aimed at those in their 20s and 30s.

Finally, Meso-Wharton P199 is best for those in their 40s and 50s like me. It uses ABG Labs Whartons Jelly Peptide containing synthetic embryonic peptides to target stem cells deep in the skin to keep them functioning well for as long as possible. Its even been claimed that it can reinvigorate the stem cell activity of someone in their 40s to levels of a 25-year-old which had me racing to book in with Dr Aamer Khan, founder of The Harley Street Skin Clinic.

Meso-Wharton speaks to the stem cells and regenerative cells and gets them to behave like when you were younger, he tells me. As we get into our 50s, were reaching the point where very few of our cells are producing collagen. It stimulates the stem cells to produce more collagen so you get younger looking skin.

The bad news is its likely not for you if you hate needles. Four to six treatments are recommended, around a week or two apart, and each treatment involves wait for it around 200 quick intradermal injections all over the face. Though Im told the needle is much smaller than the one used for Botox, its still a little painful even though a numbing cream is applied first. However, I did find each subsequent treatment hurt less, perhaps because I knew what to expect plus its all over in less than ten minutes.

Downtime takes a lot longer. Though some people look normal within 24 hours, it took my skin around six days to settle after each treatment. For the first couple of days, my entire face was covered with small bumps like mosquito bites and I had some bruising after that, though this could be covered with makeup. This would be significantly less obvious in someone without my pale skin however.

About a month after my final treatment, I start to notice small changes. I still look exactly like myself theres no ironed forehead effect but just a bit better and more refreshed. The shadows under my eyes are less obvious and my wrinkles are softer and shallower. My skin looks and feels more hydrated, particularly first thing in the morning. Suddenly, people start unexpectedly telling me I look well (aka less like an exhausted wreck than usual).

Amazingly, epigenetic skincare really has rewound the clock on my rapidly ageing face, although a top-up treatment is needed every three to six months to maintain the radiant, youthful and pleasingly natural effect.

Meso-Wharton P199 is available at The Harley Street Skin Clinic from 450 per session (a course of three to six is recommended). Visit harleystreetskinclinic.com or call 020 7436 4441.

Originally posted here:
Tried and Tested: Can Bio Regenerative Skincare really reverse ageing? LLM tried it out - Luxury Lifestyle Magazine

Recommendation and review posted by Bethany Smith

New evidence suggests the use of hormone replacement therapy (HRT) may lead to benefits in certain women with pulmonary hypertension. The findings add to a long debate over the role of hormones like estrogen in the course of the disease.

During a presentation at the American Thoracic Societys 2024 International Conference in San Diego, investigators said HRT appeared to improve pulmonary vascular disease and right ventricular (RV) function in a cohort of 742 women who participated in the study

Corresponding author Audriana Hurbon, M.D., of the University of Arizona College of Medicine, explained along with colleagues that previous research has indicated women with World Symposium Group 1 pulmonary hypertension have improved preservation of RV function compared to men in the same disease group. Yet, Hurbon and colleagues said it was not clear whether the preservation of RV function was linked with endogenous and/or exogenous exposure to female hormones, and it was not known if the apparent benefits of female hormones applied to all groups of pulmonary hypertension or merely to Group 1.

While it is accepted that in World Symposium Group 1 pulmonary hypertension female sex is associated with preservation of right ventricular function, the role of estrogen in pulmonary hypertension has been controversial, Hurbon explained, in a press release. Additionally, we know that women are affected by pulmonary hypertension more often than men, but when compared to each other, women seem to present less severely than men.

The more than 700 participants in Hurbons research were part of the National Heart Lung and Blood Institute-funded Pulmonary Vascular Disease Phenomics (PVDOMICS) Study. The women represented all five World Symposium disease groups, along with healthy controls and comparators who had risk factors for pulmonary hypertension but had not been diagnosed with the disease.

The authors set out to compare participants using mean pulmonary artery pressure on right heart catheterization to measure pulmonary vascular disease related to pulmonary hypertension, and characterizing RV function based on RV fractional shortening and RV ejection fraction from echocardiography.

Endogenous hormone exposure was quantified based on self-reported lifetime duration of menses. Participants were considered to have exogenous exposure to hormones if they had ever received HRT.

Hurbon and colleagues found that people with greater lifetime duration of menses had decreased average pulmonary arterial pressure regardless of which pulmonary hypertension group they belonged in. Specifically, they found mean pulmonary arterial pressure was 4714 mmHg for participants with 20-30 years of menses, versus 3713 mmHg for participants with more than 50 years of menses.

Additionally, participants who had taken HRT had lower mean pulmonary artery pressure (3511 vs 4214, P = 0.002) and pulmonary vascular resistance (53 vs 74, P = 0.006) and higher RV fractional shortening (3711 vs 329, P = 0.001) and RV ejection fraction (4813 vs 4012 %, P < 0.0001). However, when broken out by subgroup, the investigators only found statistically significant impacts in patients with Group 1 pulmonary hypertension.

Hurbon said in the press release that further analysis also suggests that older age and HRT exposure may have a positive synergistic effect.

This could support a theory suggesting a threshold of estrogen exposure necessary for a protective effect, she said.

The authors described their findings as preliminary, but they said their data suggest more research is needed to better understand the potential impacts of HRT, both positive and potentially negative, on patients with pulmonary hypertension.

We hope this study will be a catalyst for further exploration of the mechanisms of female reproductive hormones to identify therapeutic targets for right ventricular preservation in pulmonary hypertension, Hurbon said.

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Hormone Replacement Therapy May Benefit Some Women with Pulmonary Hypertension - Managed Healthcare Executive

Recommendation and review posted by Bethany Smith

Pharmac limits funding to two patches per week but says it is reconsidering this restriction. Photo: BMJ

The shortage of hormone replacement therapy patches is getting worse, and Pharmac has been too slow to act, doctors specialising in women's health say.

Two of the most popular dosage patches - used to mitigate the symptoms of estrogen deficiency - are unavailable nationwide, leaving women shopping around different pharmacies, and some having to pay for extra patches to reach their required prescribed dose.

Pharmac limits funding to two patches per week but said it was reconsidering this restriction, as well as moving to fund alternatives such as estrogen gels.

The funding agency said demand for HRT patches had more than doubled in the past three and the shortage was likely to continue into next year.

There were a number of factors behind the shortage, ERH Associates endocrinologist Dr Megan Ogilvie told Nine to Noon.

"Novartis, which manufactures the gold standard product Estradot, is having manufacturing issues, and there has been a significant rise in demand globally for this product as the superiority of the transdermal approach has been recognised.

"But it is compounded in New Zealand by a lack of gels which would relieve significant pressure on the patches," Ogilvie said.

In a statement, Pharmac said it was "exploring if there are other presentations or products that it can secure and fund".

Ogilvie said more funding for alternatives such as gels would ease the situation.

"We've been asking for funding for gels for probably two to three years now. And it is disappointing to see their comment that they're in the initial stages of procuring funding."

Rules governing the dose pharmacies could dispense were also complicating the situation, Ogilvie said.

"Why if I prescribe 15 micrograms twice weekly and 25 micrograms are the only patches available, does that woman have to pay to make up the extra patch dose?

"It's a historic reason, they [Pharmac] have always only funded two patches per week, per woman."

This means women who needed higher doses were penalised, she said.

Tauranga-based menopause doctor Linda Dear said prescribing and dispensing should be easier and would ease the situation.

"Strictly speaking, the rule is that a woman can have two patches a week of the same strength.

"So, there are pharmacies who will give women say a 25 [microgram] and a 50 [microgram] to make a dose of 75 [micrograms], and not charge for those extra ones."

But the picture was inconsistent, she said.

"Some women have been charged for extra patches, some women are not. Some pharmacists are happy to give women a 100-microgram patch and say 'chop this in half' even if the script said 50 micrograms, some pharmacists are not and they demand a new whole new script from the doctor.

"So, there's all this faffing around, and [at] the centre of this is a poor woman who just needs her HRT and has to go back and forth between doctors and pharmacies, just to just to get the dose she needs."

If it were pills, this would not be an issue, pharmacists could achieve the required dose using various combinations, Dr Dear said.

"It's weird how patch doses are seen so differently, when we just want to achieve a dose in whatever way shape or form, whether you have to give her multiple lower dose, or a higher dose to chop up. Just give her the dose that's working for her."

A consistent message was needed across the board, she said, so that doctors, pharmacists and patients knew what was allowed and what was not.

In a statement, Pharmac chief medical officer Dr David Hughes said he acknowledged the stress of the HRT shortage and that Pharmac was aware some people were paying for extra patches to reach their required dose.

Pharmac was considering reviewing the restriction to two patches per week, he said.

See more here:
Doctors say Pharmac too slow to act over hormone replacement therapy patch shortage - RNZ

Recommendation and review posted by Bethany Smith

Study findings to be presented at the 2024 ASCO Annual Meeting find hereditary risk for gastric and lung cancers, among others, underscoring the need for broader genetic testing

SAN FRANCISCO, May 23, 2024 /PRNewswire/ -- Invitae (OTC:NVTAQ), a leading medical genetics company, today announced eight studies to be presented at the 2024 American Society of Clinical Oncology (ASCO) Annual Meeting held in Chicago from May 31-June 4, 2024. The clinical data being presented demonstrate the importance of genetic testing for patients with various different types of cancers, including breast, gastric, prostate and lung, to better inform management and treatment decisions.

Genetic testing guidelines need to be inclusive of more cancer types, with new data finding gastric, lung and prostate cancer patients with inherited genes linked to increased cancer risk

Gastric cancer is the fourth leading cause of cancer-related deaths worldwide, and the role of pathogenic (disease causing) variants in cancer predisposition genes is not well understood for this disease. One study looked at genetic testing results in 3,706 gastric cancer patients the largest study of its kind to better understand the prevalence of disease causing variants in cancer associated genes. The results found the percentage of patients with disease causing variants to be 13.4%, about 1 in 8 patients. This shows the value of genetic testing in all gastric cancer patients, as the prevalence of pathogenic variants is similar to other cancer types for which guidelines recommend universal genetic testing.

"Current guidelines haven't met the needs for patients across cancer types, gastric cancer included," said Dr. Ophir Gilad, University of Chicago and a co-author of this study. "The prevalence of actionable gene variants found in this study of gastric cancer patients is on par with other cancer types for which guidelines recommend universal genetic testing. We're increasingly seeing evidence for germline genetic testing to help guide treatment plans and familial testing for various cancer types."

Additionally, in a study of 14,317 patients with lung cancer, 12.6% had pathogenic germline variants -- regardless of smoking history. The study results suggest these inherited genes are not only independently associated with lung cancer, but also additive to smoking risk for lung cancer. These data reinforce prior studies supporting consideration of germline genetic testing for all patients with lung cancer, independent of age or reported smoking history.

Genetic testing is similarly underutilized for prostate cancer. In a large study of 15,000 prostate cancer patients that received genetic testing, results showed that of the patients with genetic variants that increase risk of prostate cancer, 3 in 4 patients had no reported family history of prostate cancer and more than 1 in 3 patients had no reported family history of any cancer. The findings underscore the importance of genetic testing for all prostate cancer patients, regardless of age, stage or family history.

Breast cancer data in Rwanda demonstrates need for more genetic testing in underrepresented populations

Despite the observation that cancers are often diagnosed at young ages and take an aggressive course in Sub-Saharan Africa (SSA), genetic data that could inform treatment are limited for this population group.

In a recent study, patients undergoing cancer treatment in hospitals in Rwanda for female breast, male breast and prostate cancer underwent multigene panel testing (Invitae), and the results found a large proportion of the patients had inherited pathogenic variants that could help inform their treatment (18.3% of female breast cancer, 16.7% of male breast cancer, and 4.3% of prostate cancer patients). The findings suggest that genetic testing should be more routinely implemented into cancer care and prevention strategies in this population.

Underrepresented race, ethnicity, and ancestry (REA) groups face these challenges across geographies. In another recent study being presented at ASCO that included more than one million people over an eight-year period who underwent genetic testing for hereditary cancer syndromes, it was found that underrepresented REA groups are disproportionately impacted by variants of uncertain significance (VUS) in genetic testing, which are uncertain results that are not clinically actionable. With more representation of these groups in clinical studies, there will be more data that could uncover life-saving discoveries. Clinical evidence was the most significant source of information leading to VUS resolution, underscoring the importance of the clinician-lab partnership and communication.

"Germline genetic testing should be the standard of cancer care across many types of cancers. In underrepresented populations, this is especially crucial as more information needs to be collected to better inform care and improve population health overall," said Dr. Michael Korn, chief medical officer at Invitae. "Each year, ASCO presents us with an opportunity to share compelling research to help propel cancer treatment forward, and we're proud of the clinical insights our tests are able to provide across cancer types."

Study offers reassurance that variants of uncertain significance in genetic testing results among patients with breast cancer do not lead to overuse of treatment or surveillance interventions, such as mastectomies

It's common for patients with breast cancer undergoing germline genetic testing to have uncertain results, but it's previously been unclear if these results impact clinical management. However, a recent study being presented at ASCO presents new evidence indicating that variants of uncertain significance (VUS) identified through germline genetic testing do not result in guideline-discordant management in real-world settings. Specifically, patients with breast cancer and VUS results demonstrated similar rates of treatment, prevention and surveillance interventions compared to those with negative results. This offers reassurance that VUS results do not lead to overuse of mastectomies or other interventions for patients with breast cancer.

2024 ASCO presentations and posters:

About InvitaeInvitae (OTC: NVTAQ) is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae's genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people.

To learn more, visit invitae.comand follow for updates on LinkedIn, X, Instagram, and Facebook@Invitae.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's beliefs regarding its new research; the company's belief that its new research demonstrates the importance of genetic testing for many cancers not currently covered by clinical guidelines; the company's belief that its new research demonstrates the need for more research in underrepresented populations; and the company's belief that its research helps move cancer treatment forward.. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the applicability of clinical results to actual outcomes; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; risks and uncertainties regarding the company's ability to successfully consummate and complete a plan under chapter 11 or any strategic or financial alternative as well as the company's ability to implement and realize any anticipated benefits associated with its sale of assets to Labcorp and the any alternative that may be pursued, including the asset sales and wind down of operations; the company's public securities' potential liquidity and trading; and any impact resulting from the delisting of the company's common stock from the New York Stock Exchange and trading instead on the OTC Pink Marketplace; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2023. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Invitae PR contact: Renee Kelley [emailprotected]

SOURCE Invitae Corporation

More here:
New Research Demonstrates the Importance of Genetic Testing for Many Cancers Not Currently Covered by Clinical ... - PR Newswire

Recommendation and review posted by Bethany Smith

SALT LAKE CITY, May 23, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, and its collaborators will share data from seven studies at the 2024 ASCO Annual Meeting. Three studies led by Myriad focus on breast cancer risk assessment, and four additional studies will be shared by collaborators that will cover the companys Precise MRD Test, MyChoice CDx HRD Companion Diagnostic Test, and the Myriad Collaborative Research Registry (MCRR). At booth 25014, Myriad will highlight the value of genetic testing and genomic insights in guiding personalized cancer treatment decisions, as well as share information about upcoming product innovations including MRD and liquid biopsy testing.

New Data at ASCO

Oral Presentation: Evaluation of a polygenic risk score as a predictor of early onset triple-negative breast cancer in Black women (Abstract #: 10501) Presenter: Holly J. Pederson, MD, Director, Medical Breast Services, Cleveland Clinic Date: Saturday, June 1, 2024 Time: 3:12 pm CT Description: This study demonstrates that Myriads RiskScore improves upon clinical factors for the prediction of triple-negative breast cancer and early onset (<50 years) triple-negative breast cancer in Black women.

Poster: Comparison of primary versus metastatic tumor tissue sources when designing panels for whole-genome-based tumor-informed ctDNA assays in clear cell renal cell carcinoma (Abstract #3039) Date: Saturday, June 1, 2024 Time: 9:00am 12:00pm CT Description: In a pilot study of patients with oligometastatic renal cell carcinoma, molecular residual disease (MRD) results were largely concordant with mortality status and between monitoring panels composed of thousands of probes identified from either primary or metastatic tumors, suggesting repeat biopsy might not be necessary for long term MRD monitoring.

Poster: Improving a polygenic risk score (PRS) for breast cancer (BC) risk assessment in diverse ancestries(Abstract #: 10533) Date: Monday, June 3, 2024 Time: 1:30 4:30pm CT Description: This study highlights a new 385-SNP PRS component of RiskScore and demonstrates it is well-calibrated, improves upon clinical factors, and outperformed existing PRS in all tested ancestries for the prediction of breast cancer risk.

Poster: Association of polygenic-based breast cancer risk prediction with patient management(Abstract #: 10527) Date: Monday, June 3, 2024 Time: 1:30 4:30pm CT Description: The study demonstrates that clinicians recommended breast cancer screening aligned with guidelines for those with 20% lifetime risk, regardless of whether risk was based on RiskScore or on Tyrer-Cuzick alone.

Poster: Germline Genetic Profiles of Women with Ovarian Malignancies: A Myriad Collaborative Research Registry Study (Abstract #: 5585) Date: Monday, June 3, 2024 Time: 9:00 am 12:00pm CT Description: This data shows that over 15% of patients with ovarian cancer have BRCA1/2 (12.5%) or Lynch syndrome (2.6%) pathogenetic variants varying by race, age, and tumor site. Noted disparities indicate the importance of universal testing in patients with ovarian cancer.

Poster: Germline Genetic Profiles of Women with Uterine Cancer: A Myriad Collaborative Research Registry Study(Abstract #: 5617) Date: Monday, June 3, 2024 Time: 9:00 am 12:00pm CT Description: There are significant differences in germline testing results for women with uterine cancer by race, ethnicity, and age, especially in genes associated with Lynch syndrome. This has implications for immunotherapy eligibility in the advanced and recurrent setting. More work needs to be done to identify targetable mutations in minority populations.

Poster: Neoadjuvant combination treatment of olaparib and pembrolizumab for patients with HRD-positive advanced ovarian cancer (Abstract #: 5545) Date: Monday, June 3, 2024 Time: 9:00 am 12:00pm CT Description: This study shows that neoadjuvant combination therapy of olaparib and pembrolizumab is effective and tolerable in patients with HRD-positive advanced ovarian cancer. BRCA1/2 mutations are associated with the efficacy of combination therapy.

Myriad Oncology Innovations Myriad continues to expand its oncology portfolio and expertise through product innovations and the addition of new team members, including the appointment of George Daneker Jr., MD, who is the president and chief clinical officer of oncology. Myriads Precise Oncology Solutions portfolio features comprehensive germline and somatic testing options, including the MyRisk Hereditary Cancer Test with RiskScore, Precise Tumor Test, Prolaris Prostate Cancer Prognostic Test, EndoPredict Breast Cancer Prognostic Test, Folate Receptor Alpha (Fr) Test, and Myriads two FDA-approved companion diagnostic tests: MyChoice CDx HRD Companion Diagnostic Test and BRACAnalysis CDx Germline Companion Diagnostic Test.

Ongoing oncology developments include:

MRD research collaborations. In the past year, Myriad has announced several important research collaborations: a retrospective study of MRD efficacy in metastatic breast cancer with researchers at Memorial Sloan Kettering Cancer Center (MSK), a retrospective analysis of MRD utility in metastatic renal cell carcinoma with clinicians at The University of Texas MD Anderson Cancer Center, and a prospective pan-cancer study with MRD researchers at the National Cancer Center Hospital East in Japan. Early results from the research collaboration with MD Anderson will be shared at ASCO as a poster.

As we continue to innovate and grow our oncology business, our vision remains centered around advancing oncology care for all patients, said Dr. Daneker. Our new research and product innovations underscore our commitment to partnering with oncologists, academic institutions and other healthcare partners to expand access to genetic and genomic testing, create equitable testing solutions for all, and provide data-driven insights that can better inform clinical care and improve outcomes for patients.

About Myriad Genetics Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit http://www.myriad.com.

Safe Harbor Statement This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the data and information that the company plans to present at the 2024 ASCO Annual Meeting and updates on upcoming product innovations including MRD and liquid biopsy testing. These forward-looking statements are managements expectations of future events as of the date hereof and are subject to known and unknown risks and uncertainties that could cause actual results, conditions, and events to differ materially and adversely from those anticipated. Such factors include those risks described in the companys filings with the U.S. Securities and Exchange Commission, including the companys Annual Report on Form 10-K filed on February 28, 2024, as well as any updates to those risk factors filed from time to time in the companys Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. Myriad is not under any obligation, and it expressly disclaims any obligation, to update or alter any forward-looking statements, whether as a result of new information, future events or otherwise except as required by law.

Investor Contact Matt Scalo (801) 584-3532 IR@myriad.com

Media Contact Glenn Farrell (385) 318-3718 PR@myriad.com

Original post:
Myriad Genetics Showcases New Research and Product Innovations Advancing Cancer Care at 2024 ASCO Annual ... - GlobeNewswire

Recommendation and review posted by Bethany Smith

Harnessing the power of artificial intelligence (AI), CHEO researchers have developed a groundbreaking search algorithm that identifies children and youth who may have an undiagnosed rare genetic disease and refers them for genetic testing putting an end to their diagnostic odyssey.

The ThinkRare algorithm is incredibly exciting and promising because it means we can help families find answers and get the care and support they need sooner, said Dr. Kym Boycott, Senior Scientist at the CHEO Research Institute and Chief of Genetics at CHEO. This algorithm is a game changer. Using AI to scour CHEOs electronic health record based on set criteria, ThinkRare can accurately identify kids who may have an undiagnosed rare genetic disease and refer them to our clinic something that may have never happened without it.

Ten-year-old Antony Wistaff and hisfamily have spentcountlesshours at CHEO, callingit a second home. Antony wasbornprematurely in October 2013 and a few dayslaterunderwent emergency surgery at CHEO to place a shunt for hydrocephalus. But thatwasonly the beginning of whatwouldbecome a decade-long diagnostic journeyconsisting of more than 100 outpatientappointmentsacross six differentspecialtyclinics at CHEO, and 30 trips to the emergency department for variousreasons.

That was until recently, when the ThinkRare algorithm identified Antony as potentially having an undiagnosed rare genetic disease and flagged him for a referral to receive genome-wide sequencing testing a test that simultaneously analyzes the more than 5,000 genes that have been associated with rare disease and is now available clinically in Ontario.

The results of the genetictestingdiscoveredthat Antony has Chung-Jansen Syndrome a rare disorderresultingfrom a pathogenic variant in the PHIP gene. At present, the syndrome has been diagnosed in only about 400 people worldwide and itexplainedmany of Antonyshealth and behavioural challenges, includinghisdevelopmentaldelays, learningdifficulties, and large head size.

When we found out that Antony was diagnosed with Chung-Jansen Syndrome, it answered so many questions for our family, said Georges Wistaff, Antonys dad. This research brought a kind of peace to our house. Hadweknownthissooner, itwould have meantlessquestioning as parents, less stress, and more support becausewewould have had a cleardiagnosis for Antony. A little bit of blood and a simple test, answeredsomany questions.

To date, Think Rare, whichiscurrently operating as a researchprojectapproved by the CHEO ResearchEthicsBoard, isthree for three meaning the first three patients identified by ThinkRare and referred to genetics have received test results and been diagnosedwith a rare disease. Genetictestingisunderway for manyotherfamiliesidentified by ThinkRare.

Our goal is to flip the diagnostic care journey on itshead and start withgenetictestingearlier on the care pathway. By incorporating the ThinkRarealgorithmintoclinical care, wewillbe able to support CHEO clinicians and frontlineworkerswith the power of machine learning to find the needle in the haystack, added Dr. Boycott, whois a Tier 1 Canada Research Chair in Rare DiseasePrecisionHealth and Professor of Pediatrics at the University of Ottawa.

Work iscurrentlyunderway at CHEO to transition the ThinkRareprojectfrom researchintoclinical practice, with all the necessary patient privacymechanisms in place.

CHEO isuniquelypositioned to develop an impactfulalgorithmsuch as ThinkRarebecause of CHEOsinvestment in a robustelectronichealth record system, ourcommitment to innovation, our close collaboration betweenclinical and researchteams, and becausewe are the only pediatric healthcare centre in Eastern Ontario serving a widegeographic area. At CHEO, we have broughttogether all the necessaryelementswhenitcomes to making AI advancements in healthcare, said Dr. Jason Berman, CEO and Scientific Director, CHEO Research Institute, and Vice-PresidentResearch, CHEO.

The ThinkRareprojectwas made possible withfundingfrom the CHEO Foundation, the CHAMO Innovation Fund, and Ontario Genomics.

-30-

Media contact:

Jennifer Ruff Director of Communications CHEO Research Institute (613) 261-3979 jruff@cheo.on.ca

About the CHEO Research Institute

The CHEO Research Institute is a global centre of excellence in pediatric research that connects talent and technology in pursuit of life-changing research for every child, youth and family in the CHEO community and beyond. The CHEO Research Institute coordinates the researchactivities of CHEO and isaffiliatedwith the University of Ottawa. At the CHEO Research Institute, discoveries inspire the best life for everychild and youth. For more information, visitcheoresearch.ca.

The rest is here:
World-first AI algorithm developed at CHEO leads to rare disease diagnosis for families - CHEO

Recommendation and review posted by Bethany Smith

INFORMATION. WERE ALL FAMILIAR WITH THE TERM. IT RUNS IN THE FAMILY. MUCH OF OUR DNA COMES FROM OUR PARENTS, GRANDPARENTS, AND SO FORTH, AND DNA CAN REGULARLY CONTRIBUTE TO HEREDITARY CANCER RISK, ACCORDING TO THE NATIONAL CANCER INSTITUTE. THESE INHERITED VARIANTS ARE THOUGHT TO CONTRIBUTE TO ABOUT 5 TO 10% OF ALL CANCERS AND ITS NOT JUST THE COMMON CANCERS WERE USED TO HEARING ABOUT BEING HEREDITARY THAT ARE BEING TESTED FOR, BUT IT REALLY CAN RANGE THE SPECTRUM OF BEYOND JUST BREAST AND OVARIAN CANCER. BUT TO THINGS LIKE COLON CANCER, UTERINE CANCER, PANCREATIC CANCER AND PROSTATE CANCER, JUST TO NAME SOME OF THOSE. BUT THERE IS A WAY TO HELP YOU LEARN ABOUT POSSIBLE RISKS FOR CERTAIN TYPES OF CANCER, AND THAT IS THROUGH GENETIC TESTING. ITS THE USE OF MEDICAL TESTS TO LOOK FOR A CERTAIN MUTATION OR CHANGES IN A PERSONS GENES. WE KNOW STUDIES SHOW EARLY DETECTION CAN SAVE LIVES. THE WHOLE IDEA OF CATCHING CANCER EARLY MAKES SUCH A DIFFERENCE IN PROGNOSIS FOR A PATIENT, AS WELL AS OPTIONS FOR TREATMENT. MICHAEL ESCO GOT TESTED TO DETERMINE HIS POSSIBLE RISK. HE SAYS HIS MOTHER, HIS MATERNAL GRANDMOTHER, BOTH HAD BREAST CANCER AND TESTED POSITIVE FOR THE BRCA GENE. BOTH MYSELF AND MY SISTER I KNEW WERE 50 OVER 50 TO GET THAT AND AND IM A FIRM BELIEVER THAT KNOWLEDGE IS POWER. AND I JUST WANTED TO BE ARMED WITH THAT INFORMATION SO I COULD PLAN ACCORDINGLY. MOVING FORWARD. IT MAKES ME CONFIDENT AND HAPPY TO KNOW THAT I HAVE TAKEN A MATURE, RESPONSIBLE APPROACH WITH THIS. ESCO SAYS ONCE HE LEARNED HE CARRIED THE GENE, HE SPOKE TO A GENETIC COUNSELOR WHO GAVE HIM INFORMATION THAT HE NOW USES TO MAKE DECISIONS ABOUT HOW TO MOVE FORWARD WITH TREATMENTS AND PLANS OF ACTION BEFORE AND AFTER GENETIC TESTING. GENETIC COUNSELORS HELP PATIENTS UNDERSTAND AND WHAT TEST RESULTS MEAN. EXPLAIN RISKS AND WHAT YOU CAN DO ABOUT THOSE RISKS. GENETIC TESTING AND GENETIC COUNSELING IS REALLY AN EXPERIENCE TO HELP EMPOWER INDIVIDUALS WHEN IT COMES TO KNOWING THEIR HEALTH INFORMATION. ESCO, SHARING HIS STORY, SAYING AS NERVE WRACKING AS THESE TESTS MAY BE, IT CAN BE LIFE SAVING AND SAYS IT MAKES YOU SO MUCH LESS LIKELY TO BE CAUGHT OFF GUARD. THERE IS THE POTENTIAL TO BE CONFRONTED WITH SOME INFORMATION THAT COULD BE OVERWHELMING OR UNDESIRED, BUT I THINK THAT IF SOMEBODY DECIDES THAT THEY WANT TO TAKE A PROACTIVE AND AND ACTIONABLE APPROACH JUST TO REALLY PRIORITIZE THEIR HEALTH MOVING FORWARD, I THINK THAT KNOWING WHAT YOUR PERSONAL RISK FACTORS ARE HELPS YOU MITIGATE THOSE. GENETIC TESTING MAY BE RECOMMEND FOR PEOPLE WHO HAVE HAVE CERTAIN CANCERS OR CERTAIN PATTERNS OF CANCER IN THEIR FAMILY. THE AMERICAN CANCER SOCIETY RECOMMENDS TALKING TO YOUR PRIMARY CARE DOCTOR OR A GENETIC COUNSELOR ABOUT TESTING. IF YOU HAVE SEVERAL FIRST DEGREE RELATIVES WITH CANCER, A CLUSTER OF CANCERS IN YOUR FAMILY, A FAMILY MEMBER WITH MORE THAN ONE TYPE OF CANCER, OR A FAMILY MEMBER WHO DEVELOPED CANCER AT A YOUNG AGE, WHICH IS TYPICALLY NOTED AS LESS THAN 50 YEARS OLD, THEY MAY NEVER BE DIAGNOSED WITH CANCER, EVEN IF THEY DO TEST POSITIVE FOR ONE OF THESE GENES, BUT ITS IN EVERYONES BEST INTEREST TO FIND OUT THIS INFORMATION EARLY WHEN THERES MORE OPTIONS TO TO UNDERGO. YASMIN RODRIGUEZ, PITTSBURGHS ACTION NEWS FOUR. AND GENETIC TESTING CAN BE DONE WITH EITHER A BLOOD TEST OR A SALIVA SAMPLE. IF YOURE INTERESTED IN THIS TYPE OF SCREENING, GENETIC COUNSELORS RECOMMEND STARTING A CONVERSATION WITH

Genetic cancer screening: Learning more about lesser known hereditary cancers

The testing is available through a primary care doctor

Updated: 10:58 AM EDT May 20, 2024

We have heard there are ways to mitigate the risks of developing cancer, but now we're learning some cancers are hereditary. Determining your possible risks has become more accessible, and a simple test can tell you a lot you should know.We're all familiar with the term "it runs in the family." Much of our DNA comes from our parents, grandparents and so forth. And DNA can regularly contribute to hereditary cancer risk. According to the National Cancer Institute, these inherited variants are thought to contribute to about 5% to 10% of all cancers.It's not just the common cancers we're used to hearing about being hereditary that are tested for."It really can range the spectrum of beyond just breast and ovarian cancer, but to things like colon cancer, uterine cancer, pancreatic cancer and prostate cancer, just to name some of those," genetic counselor Amy Kunz said.But there is a way to help you learn about possible risks for certain types of cancer, and that is through genetic testing. It's the use of medical tests to look for certain mutations, or changes, in a person's genes."We know studies show early detection can save lives. The whole idea of catching cancer early makes such a difference in prognosis for a patient, as well as options for treatment," Kunz said.Michael Isoke got tested to determine his possible risk. He says his mother and maternal grandmother both had breast cancer and tested positive for the BRCA gene."Both myself and my sister I knew were 50/50 to get that, and I'm a firm believer that knowledge is power, and I just wanted to be armed with that information so I could plan accordingly moving forward," Isoke said. "It makes me confident and happy to know that I have taken a mature, responsible approach with this."Isoke says once he learned he carried the gene, he spoke to a genetic counselor who gave him information that he now uses to make decisions about how to move forward with treatments and plans of action. Before and after genetic testing, genetic counselors help patients understand what test results mean, explain risks and what you can do about those risks. "Genetic testing and genetic counseling is really an experience to help empower individuals when it comes to knowing their health information," Kunz said.Isoke is sharing his story. He says that as nerve-wracking as these tests may be, they can be lifesaving and make you much less likely to be caught off guard."There is the potential to be confronted with some information that can be overwhelming or undesired, but I think that if somebody decides that they want to take a proactive and actionable approach, just to really prioritize their health moving forward, I think that knowing what your personal risk factors are helps you mitigate this," Isoke said.Genetic testing may be recommended for people who have certain cancers or certain patterns of cancer in their family. The American Cancer Society recommends talking to your primary care doctor or a genetic counselor about testing if you have several first-degree relatives with cancer, a cluster of cancers in your family, a family member with more than one type of cancer, or a family member who developed cancer at a young age, which is typically noted as less than 50 years old."They may never be diagnosed with cancer, even if they do test positive for one of these genes, but it's in everyone's best interest to find out this information early when there's more options to undergo," Kunz said.Genetic testing can be done with either a blood test or a saliva sample. If you are interested in this type of screening, genetic counselors recommend starting a conversation with your family doctor about your concerns and family history.

We have heard there are ways to mitigate the risks of developing cancer, but now we're learning some cancers are hereditary. Determining your possible risks has become more accessible, and a simple test can tell you a lot you should know.

We're all familiar with the term "it runs in the family." Much of our DNA comes from our parents, grandparents and so forth. And DNA can regularly contribute to hereditary cancer risk. According to the National Cancer Institute, these inherited variants are thought to contribute to about 5% to 10% of all cancers.

It's not just the common cancers we're used to hearing about being hereditary that are tested for.

"It really can range the spectrum of beyond just breast and ovarian cancer, but to things like colon cancer, uterine cancer, pancreatic cancer and prostate cancer, just to name some of those," genetic counselor Amy Kunz said.

But there is a way to help you learn about possible risks for certain types of cancer, and that is through genetic testing. It's the use of medical tests to look for certain mutations, or changes, in a person's genes.

"We know studies show early detection can save lives. The whole idea of catching cancer early makes such a difference in prognosis for a patient, as well as options for treatment," Kunz said.

Michael Isoke got tested to determine his possible risk. He says his mother and maternal grandmother both had breast cancer and tested positive for the BRCA gene.

"Both myself and my sister I knew were 50/50 to get that, and I'm a firm believer that knowledge is power, and I just wanted to be armed with that information so I could plan accordingly moving forward," Isoke said. "It makes me confident and happy to know that I have taken a mature, responsible approach with this."

Isoke says once he learned he carried the gene, he spoke to a genetic counselor who gave him information that he now uses to make decisions about how to move forward with treatments and plans of action. Before and after genetic testing, genetic counselors help patients understand what test results mean, explain risks and what you can do about those risks.

"Genetic testing and genetic counseling is really an experience to help empower individuals when it comes to knowing their health information," Kunz said.

Isoke is sharing his story. He says that as nerve-wracking as these tests may be, they can be lifesaving and make you much less likely to be caught off guard.

"There is the potential to be confronted with some information that can be overwhelming or undesired, but I think that if somebody decides that they want to take a proactive and actionable approach, just to really prioritize their health moving forward, I think that knowing what your personal risk factors are helps you mitigate this," Isoke said.

Genetic testing may be recommended for people who have certain cancers or certain patterns of cancer in their family. The American Cancer Society recommends talking to your primary care doctor or a genetic counselor about testing if you have several first-degree relatives with cancer, a cluster of cancers in your family, a family member with more than one type of cancer, or a family member who developed cancer at a young age, which is typically noted as less than 50 years old.

"They may never be diagnosed with cancer, even if they do test positive for one of these genes, but it's in everyone's best interest to find out this information early when there's more options to undergo," Kunz said.

Genetic testing can be done with either a blood test or a saliva sample. If you are interested in this type of screening, genetic counselors recommend starting a conversation with your family doctor about your concerns and family history.

Read more:
Genetic Cancer Screening: Learn more about hereditary cancers - WTAE Pittsburgh

Recommendation and review posted by Bethany Smith

PASADENA, Calif., May 23, 2024 (GLOBE NEWSWIRE) -- Genetic Technologies Limited (ASX: GTG; NASDAQ: GENE, Company, GeneType), a global leader in genomics-based tests in health, wellness and serious disease, is pleased to announce that the Know Your Risk event held yesterday at The Langham Pasadena has set a new standard for womens health initiatives, highlighting the transformative potential of genetic testing and risk assessment. Organized by GeneType and Humanise Health, in partnership with Thermo Fisher Scientific and Creators Entertainment Group, this landmark event was not merely a gathering, but a movement aimed at empowering women with the knowledge to take control of their health.

A Movement, Not Just an Event

The Know Your Risk event was designed to foster an environment where women could engage with cutting-edge discussions on genomics and the importance of personalized health strategies. Through thought-provoking sessions led by renowned healthcare professionals, attendees explored how genetic testing and risk assessment can revolutionize preventive healthcare for women.

Inspirational Speakers and Insightful Panels Co-hosted by the esteemed Dr. Kristi Funk and the dynamic Krystal Barter, the event featured a series of enlightening panels. Dr. Funk, Angelina Jolies Breast Surgeon, and Krystal Barter, along with an impressive lineup of speakers including Dr. Carolynn Young, Andrea Hans, Allyn Rose Oertel, and Matthew Zachary, provided invaluable insights into the critical role of genomics in womens health.

Key Sessions Included:

Unpacking the Gender Health Gap: The Vital Role of Genetic Testing and Risk Assessment in Cancer Prevention for Womens Health Dr. Kristi Funk, Dr. Carolynn Young, and Krystal Barter delved into how genetic testing can identify risks early, bridging the gap in gender-specific healthcare.

Patient Voices at the Center: Lived Experiences in Womens Health Advocacy and Policy Andrea Hans, Matthew Zachary, and Allyn Rose Oertel shared personal stories and discussed the impact of patient advocacy on health policies and practices.

Launch of the Revolutionary GeneType Test A highlight of the event was the launch of the groundbreaking geneType hereditary breast and ovarian cancer test. This innovative test is designed to identify 100 percent of women at risk, including those with the most common gene mutations, regardless of family history. This advancement represents a significant leap forward in preventive healthcare, offering women the tools they need to make informed decisions about their health.

A Transformative Experience The Know Your Risk event successfully created a platform for education, empowerment, and community. It underscored the importance of genetic testing and risk assessment in transforming womens health, inspiring attendees to advocate for their health and well-being proactively.

Enquiries Simon Morriss Chief Executive Officer E: investors@genetype.com

About Genetic Technologies Limited Genetic Technologies Limited (ASX: GTG; Nasdaq: GENE) is a diversified molecular diagnostics company. A global leader in genomics-based tests in health, wellness and serious disease through its geneType and EasyDNA brands. GTG offers cancer predictive testing and assessment tools to help physicians to improve health outcomes for people around the world. The company has a proprietary risk stratification platform that has been developed over the past decade and integrates clinical and genetic risk to deliver actionable outcomes to physicians and individuals. Leading the world in risk prediction in oncology, cardiovascular and metabolic diseases, Genetic Technologies continues to develop risk assessment products. For more information, please visit http://www.genetype.com

About GeneType and Humanise Health GeneType and Humanise Health are at the forefront of personalized healthcare, committed to advancing women's health through innovative genetic testing and comprehensive risk assessment.

Forward Looking Statements

This announcement may contain forward-looking statements about the Company's expectations, beliefs or intentions regarding, among other things, statements regarding the expected use of proceeds. In addition, from time to time, the Company or its representatives have made or may make forward-looking statements, orally or in writing. Forward-looking statements can be identified by the use of forward-looking words such as "believe," "expect," "intend," "plan," "may," "should" or "anticipate" or their negatives or other variations of these words or other comparable words or by the fact that these statements do not relate strictly to historical or current matters. These forward-looking statements may be included in, but are not limited to, various filings made by the Company with the U.S. Securities and Exchange Commission, press releases or oral statements made by or with the approval of one of the Company's authorized executive officers. Forward-looking statements relate to anticipated or expected events, activities, trends or results as of the date they are made. As forward-looking statements relate to matters that have not yet occurred, these statements are inherently subject to risks and uncertainties that could cause the Company's actual results to differ materially from any future results expressed or implied by the forward-looking statements. Many factors could cause the Company's actual activities or results to differ materially from the activities and results anticipated in such forward-looking statements as detailed in the Company's filings with the Securities and Exchange Commission and in its periodic filings with the ASX in Australia and the risks and risk factors included therein. In addition, the Company operates in an industry sector where securities values are highly volatile and may be influenced by economic and other factors beyond its control. The Company does not undertake any obligation to publicly update these forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

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GeneType and Humanise Health host Know Your Risk Event - GlobeNewswire

Recommendation and review posted by Bethany Smith

The Rare Disease Genetic Testing Market is projected to grow significantly, with its size expected to reach USD 3,051.6 million by 2032 from USD 918.94 million in 2023, at a compound annual growth rate (CAGR) of 13.1% during the forecast period from 2022 to 2032. This growth is driven by several factors including the increasing prevalence of rare diseases, advancements in genetic testing technologies, and heightened government initiatives aimed at improving diagnosis and treatment.

Expanding patient registries and the development of new genetic testing technologies such as Next-Generation Sequencing (NGS) are pivotal in driving market growth. NGS, which accounted for over 35% of the market share in 2022, enables comprehensive genetic testing that is crucial for diagnosing a wide range of rare diseases. Moreover, government initiatives like the US FDAs program for rare neurodegenerative diseases and the UK Rare Disease Framework emphasize faster diagnosis and improved treatment access, further propelling the market.

However, challenges such as the high cost of genetic tests and the limited availability of trained healthcare personnel pose significant barriers. The cost factor particularly affects accessibility in low- and middle-income countries, potentially limiting market growth in these regions.

Recent developments in the market include strategic collaborations and technological advancements. For example, in 2022, Bionano Genomics launched the Rare Undiagnosed Genetic Disease (RUGD) initiative to support research and improve patient care, and Predicine Inc. received FDA approval for an NGS assay for tumor mutation profiling. These developments highlight the ongoing efforts to enhance genetic testing capabilities and accessibility.

Overall, the markets growth is bolstered by technological advancements, increasing awareness and diagnosis of rare diseases, and supportive government policies, despite the challenges of cost and resource availability.

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Quest Diagnostics is a leading provider of diagnostic information services, including comprehensive genetic testing for rare diseases. The company acquired Blueprint Genetics to enhance its capabilities in gene variant interpretation and next-generation sequencing. This acquisition enables Quest to offer highly specialized genetic insights, improving patient care and pharmaceutical drug development. Blueprint Genetics provides over 200 panel tests spanning 14 medical specialties, catering to the needs of patients with rare genetic conditions. Quests extensive infrastructure and advanced diagnostics ensure broad access to high-quality, actionable genetic data.

Centogene N.V. specializes in rare disease diagnostics and genetic testing, with a focus on transforming clinical and genetic data into actionable medical information. The company operates a global network of laboratories and provides comprehensive testing services, including whole exome sequencing, biomarker discovery, and patient-centric data repositories. Centogenes proprietary CentoMD platform integrates clinical and genetic data to support accurate diagnosis and treatment planning for rare diseases. By leveraging advanced bioinformatics, Centogene aims to accelerate the development of personalized therapies for patients worldwide.

Invitae Corp. is dedicated to bringing comprehensive genetic information into mainstream medical practice to improve healthcare for billions of people. The company offers a wide range of genetic tests, including those for rare diseases, and emphasizes accessibility and affordability. Invitaes robust genetic testing services are supported by an integrated platform that combines advanced sequencing technology with extensive data analysis. This approach helps clinicians and patients make informed decisions about managing rare genetic conditions, enhancing diagnostic accuracy, and facilitating personalized treatment plans.

3billion Inc. focuses on diagnosing rare genetic disorders through whole exome sequencing and advanced bioinformatics. The company aims to make genetic testing more accessible and affordable, offering comprehensive diagnostic solutions that cover thousands of rare diseases. 3billions platform uses proprietary algorithms and extensive genetic databases to interpret sequencing data accurately. This enables precise diagnosis and supports the development of targeted therapies for rare genetic conditions, improving patient outcomes and advancing personalized medicine.

Arup Laboratories is a national reference laboratory offering extensive genetic testing services, including those for rare diseases. The companys expertise in genetic diagnostics spans various medical specialties, with a strong focus on high-quality, reliable results. Arup utilizes state-of-the-art technologies, such as next-generation sequencing and chromosomal microarray analysis, to detect and interpret genetic variants associated with rare conditions. Their commitment to research and innovation ensures continuous improvement in diagnostic accuracy and patient care, supporting healthcare providers in managing rare genetic disorders effectively.

Rare Disease Genetic Testing Market Report Scope >> Market Value (2023): USD 918.9 Million || Forecast Revenue (2033): USD 3,051.6 Million || CAGR (2024-2033): 13.1% || Base Year Estimation: 2023 || Historic Period: 2019-2022 || Forecast Period: 2024-2033.

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Recommendation and review posted by Bethany Smith

What We Know

Hormonal contraceptives (HC) may help stabilize the fluctuations in estrogen and progesterone that occur during the menstrual cycle and in perimenopause that are particularly impairing for neurodivergent women, however research has found a correlation between some types of oral HC use and higher rates of depression in women with ADHD.

The impact of sex hormones, including estrogen and progesterone, on ADHD symptoms in women has only recently become the subject of scientific inquiry. A recent study found that various ADHD symptoms wax and wane depending on the menstrual phase. Researchers found that estrogen has a protective effect for both cognition and emotional regulation, and that ADHD symptoms tend to worsen when estrogen drops. 1

These findings are reflected in the lived experience of ADDitude readers. In a recent survey, a full 98% of respondents reported experiencing hormone-related changes in cognitive function and/or mood, including changes in focus, attention and memory as well as emotional regulation.

Oral HC, or birth control pills, typically contain synthetic estrogen and progesterone. In addition to preventing pregnancy, they are often used to treat heavy menstrual bleeding, painful cramps, irregular periods, polycystic ovarian syndrome, and acne. In addition, some clinicians prescribe oral HC to stabilize hormone levels in women and treat premenstrual syndrome (PMS) and/or premenstrual dysphoric disorder (PMDD), which impact two-thirds of women with ADHD, according to an ADDitude survey.

Until recently, the implications of oral HC use for women with ADHD were entirely uninvestigated, however a recent study published in Journal of the American Academy of Child and Adolescent Psychiatry (JAACP),2 revealed that:

Systemic hormonal contraception contains progestins that inhibit the ovulatory cycle and thereby smoothens the hormonal profile, but it may also mimic the negative mood symptoms experienced from natural progesterone during the luteal phase of the menstrual cycle, explains Lotta Burg Skoglund, M.D., Ph.D., a lead author on the study. However, most women do not experience these negative mood effects and, somewhat counterintuitively, some progestins may even alleviate symptoms of PMDD.

An ADDitude survey of nearly 5,000 women revealed that 93% of respondents aged 45 and older experienced elevated and aggravated ADHD symptoms in perimenopause and/or menopause. More than half of these women said their ADHD symptoms including feelings of overwhelm, procrastination, and memory issues had a life-altering impact in menopause. We know that for hormone replacement therapy (HRT) can effectively alleviate common symptoms of menopause, such as hot flashes, mood lability, and insomnia, and it may offer other benefits.

Studies show that HRT, if initiated within 10 years of menopause, reduces all-cause mortality and risks of coronary disease, osteoporosis, and dementia,3 explains Jeanette Wasserstein, Ph.D., in the ADDitude article, Menopause, Hormones & ADHD: What We Know, What Research is Needed. Overall, recent research suggests that the risk in using any type of HRT is lower than previously reported in literature.

Research has revealed heightened risk for some cancers associated with some forms of HRT, so Wasserstein highlights that a thorough consultation with a medical provider is critical before beginning HRT.

No studies have probed the implications of HRT use for climacteric women with ADHD and we know very little about the potential benefits or risks of HC for women with ADHD.

ADHD is a common illness, but few studies have looked at the association of hormonal stages and ADHD symptoms, write the authors of a systematic review of sex hormones, reproductive stages, and ADHD published in Archives of Womens Mental Health.4Notably, we did not find any studies investigating ADHD symptoms in other female physiological states such as pregnancy or menopause or looking at the response of patients with ADHD to hormonal treatments such as hormone replacement therapy.

The small puzzle pieces of existing data are surrounded by questions. Why, for example, did women with ADHD on oral HC experience far higher rates of depression while those on hormone implants or IUDs did not? Until more research is conducted, researchers are left to theorize.

It may be that, when taking oral birth control, women with ADHD might be extra susceptible to forget to take their birth control pills or may take them irregularly, causing hormonal fluctuations that may destabilize mood, explained Skoglund in her ADDitude webinar, The Emotional Lives of Girls with ADHD. Also, a womans hormonal levels will fluctuate during assumed pill-free intervals.

Some anecdotal reports suggest the use of oral HC, which minimize hormonal fluctuations, may improve ADHD symptoms in some women.

I was surprised and amazed by the extent to which my focus and my executive functioning improved since I started hormonal birth control, said Silvia, an ADDitude reader in Italy. I totally reshaped my life: I decided to start coaching people again, joined a company and am thinking of going back to university again to obtain a second degree. I dont experience mood swings anymore and I feel less exposure to RSD.

These anecdotal reports offer promise. But without research, clinicians lack a solid foundation of data to make treatment recommendations.

We need to find out why some women feel better with oral contraceptives and others feel depressed, says J.J. Sandra Kooij, M.D., Ph.D. It is about hormone sensitivity, and how hormones interact with neurotransmitters such as dopamine in women with ADHD, but exactly what drives this difference is still unclear.

Given a total lack of research studies, there is virtually no reliable science regarding the risks and benefits of HRT for peri- and post-menopausal women. Among the many questions that remain unanswered are the following:

Hormonal contraceptives are among several first-line treatments for PMS and PMDD, which impact women with ADHD with heightened frequency and intensity.5 Symptoms of these mood disorders are frequently debilitating, and include suicidal ideation. A comprehensive understanding of possible treatment options for these women could significantly improve quality of life and reduce the risk of self-harm.

Reliable, well-tolerated contraception is also critical for girls and women with ADHD because they are six times more likely to give birth as teenagers compared with women without this diagnosis, according to a recent study led by Skoglund. 6

These dramatically heightened rates of unplanned pregnancy were also found in the groundbreaking Berkeley Girls with ADHD Longitudinal Study, led by Stephen P. Hinshaw, Ph.D., professor of psychology at the University of California, Berkeley. By the time they reached their mid to late 20s, about 43% of the BGALS participants in the ADHD group had one or more unplanned pregnancies, Hinshaw told ADDitude.

Research has found that experiencing unwelcome psychological side effects is the most commonly reported reason for the discontinuation of hormonal contraception, a decision which could have far-reaching implications.7

Unwanted pregnancy undermines womens schooling, health and social status and is directly linked to the negative psychosocial impact of ADHD on health, autonomy, academic performance, and quality of life, Skoglund says. Averting underage parenthood through effective contraception methods will likely benefit womens education, empowerment, health and quality of life, their families, offspring, and society from a health economic perspective and have broad and public health benefits, extending far beyond the targeted group.

Hormonal contraceptives earn mixed reviews from readers, some of whom find them helpful in balancing mood and reducing ADHD symptoms; others report that HC use increases in anxiety, irritability and depression, among other intolerable side effects.

Hormonal birth control affected me so negatively that I went off of it. It was highly disruptive to my mood and overall wellbeing, says Jen, a reader in Utah. I dont mess with the hormones even though they love to mess with me.

I had an IUD for 7 years. Within a few days, I could not believe the change in my mood. I felt more emotionally even and steady than I had felt in years, shares ADDitude reader Anne.

My PMDD was exacerbated by any hormone preparation, including the pill. The low-dose Mirena was an absolute nightmare for me, says Nicole, an ADDitude reader. Im so hesitant to try anything to manage impending menopause, which has me ever more on edge, and Im not sure yet how to advise my teen on these matters.

I started birth control due to PMDD. The mini-pill has been fantastic for my ADHD. I have fewer hormonal fluctuations, says Karen, an ADDitude reader in Idaho. I can finally rely on myself to be functional every day (as long as I get enough sleep and take my ADHD meds).

I detested the combined pill. It wrecked my mental health, and gave me dangerous migraines), offers another ADDitude reader. I was still disorganized, unmotivated with the added bonus of all the physical and mental downsides of the combined pill.

ADDitude readers often report improved brain fog, memory issues, and mood swings while on HRT, though some say their doctors resist prescribing hormone replacement.

As I approach menopause, my ADHD symptoms have worsened exponentially severe memory and concentration problems, plus brain fog, mood swings, acne, sleep problems, fatigue. Ive been barely able to work for almost a year now, says Jennifer, an ADDitude reader in California. I begged my doctor for HRT, but they wont prescribe it since Im not technically in menopause yet. They put me back on the pill to see if that would help, but it didnt help at all with any of my current symptoms and gave me terrible cramps and made me feel crappy the whole time.

I am really glad to be on estrogen HRT because it is preventing the double-whammy of menopause and ADHD, at least for now, says Jaime, an ADDitude reader in North Carolina.

I have recently started on hormones for women in (peri)menopause, and the horrendous brain fog Ive been dealing with for the past 18 months has lifted a great deal, says Isabella, an ADDitude reader in the Netherlands.

I am postmenopausal, and take estrogen replacement daily, says Amy, an ADDitude reader in Michigan. I think my ADHD is worse on days that I miss my dose of estrogen.

Given the known relationship between fluctuating hormones and ADHD symptoms, researchers must explore how we can safely employ HC and HRT to ameliorate both mood and cognitive symptoms.

Given the increased risk of depression in women with ADHD, which may be further increased by oral HC use, future clinical trials on contraception need to include women with mental health problems, including ADHD, to guide prescribers on the best available choices for these women, write the authors of the JAACP study.

In medicine, women are still understudied because they are considered less reliable research subjects than men, due to hormonal changes during the lifespan, explains Kooij in Hormonal Sensitivity of Mood Symptoms in Women with ADHD Across the Lifespan.8 Women with ADHD have been even more understudied, while exactly their hormonal mood changes and increased severity of ADHD urgently need our research attention.

Females with ADHD are usually excluded from studies on contraceptive effectiveness and tolerability, Skoglund explains. As contraception is a burden for women to carry due to male methods being less effective, lack of knowledge on how different contraceptives affect women with ADHD may create an undue burden.

Intro: Top 10 Research Priorities

1 Eng, A.G., Nirjar, U., Elkins, A.R., Sizemore, Y.J., Monticello, K.N., Petersen, M.K., Miller, S.A., Barone, J., Eisenlohr-Moul, T.A., & Martel, M.M. (2024). Attention-deficit/hyperactivity disorder and the menstrual cycle: Theory and evidence. Hormones and Behavior, 158(105466). ISSN 0018-506X. https://doi.org/10.1016/j.yhbeh.2023.105466

2 Lundin, C., Wikman, A., Wikman, P., Kallner, H. K., Sundstrm-Poromaa, I., & Skoglund, C. (2023). Hormonal Contraceptive Use and Risk of Depression Among Young Women With Attention-Deficit/Hyperactivity Disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 62(6), 665674. https://doi.org/10.1016/j.jaac.2022.07.847)

3 Langer, R. D., Hodis, H. N., Lobo, R. A., & Allison, M. A. (2021). Hormone replacement therapy where are we now?. Climacteric : The Journal of the International Menopause Society, 24(1), 310. https://doi.org/10.1080/13697137.2020.1851183

4 Camara, Bettina, et al. Relationship between sex hormones, reproductive stages and ADHD: a systematic review. Archives of Womens Mental Health, vol. 25, no. 1, Feb. 2022, pp. 1+. Gale OneFile: Health and Medicine

5 Ali SA, Begum T, Reza F. Hormonal Influences on Cognitive Function. Malays J Med Sci. 2018 Jul;25(4):31-41. doi: 10.21315/mjms2018.25.4.3. Epub 2018 Aug 30. PMID: 30914845; PMCID: PMC6422548.

6 Skoglund C., Kopp Kallner H.,,Skalkidou A. et al. Association of attention-deficit/hyperactivity disorder with teenage birth among women and girls in Sweden. JAMA Netw Open. 2019; 2e1912463 https://doi.org/10.1001/jamanetworkopen.2019.12463

7 Lindh I., Hognert H., Milsom I. The changing pattern of contraceptive use and pregnancies in four generations of young women. Acta Obstet Gynecol Scand. 2016; 95: 1264-1272 https://doi.org/10.1111/aogs.13003

8 Kooij JS. Hormonal sensitivity of mood symptoms in women with ADHD across the lifespan. Eur Psychiatry. 2023 Jul 19;66(Suppl 1):S23. doi: 10.1192/j.eurpsy.2023.92. PMCID: PMC10417850.

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HRT, Birth Control Pill for ADHD Women: Hormone Replacement Therapy Info - ADDitude magazine

Recommendation and review posted by Bethany Smith

The skin is the largest organ of the human body and has a surface area of 1.52m2, covering the surface of the human body. It is in direct contact with the external environment and protects us from environmental factors1. The skin consists of three parts: the epidermis, dermis, and subcutaneous tissue, which jointly protect internal organs and perform different biological functions. The epidermis is located in the outermost layer of the body and plays a major defensive role2. The dermis is mainly responsible for the synthesis, deposition, and remodeling of the dermal extracellular matrix (ECM), which supports the structural integrity of the skin3,4. Dermal fibroblasts are the main cells in the dermis and synthesize and secrete collagen, elastin and proteoglycan to give strength and elasticity to the skin5. Subcutaneous tissue is located in the deepest layer of the skin and is rich in fat cells and blood vessels; it can support, warm, and provide nutrition for the dermis6. Skin appearance is the main factor used to evaluate age and health status. With the emergence of aging complications and the improvement in quality of life, people are highly motivated to maintain a youthful appearance. Therefore, how to prevent and delay skin aging is important for the general public, thereby stimulating the in-depth study of antiaging by researchers.

Under aging and the decline in the structure and function of skin tissue stimulated by external factors, many functional cells in skin tissue undergo senescence and apoptosis, while new cells lack the ability to self-renew. To resolve the insufficient self-renewal ability of cells in skin tissue, some researchers have proposed that skin cells can be replenished by activating stem cells in skin tissue. However, long-term activation and mobilization will lead to the depletion of stem cells in the body and the complete loss of the ability of cells in the skin to self-renew7. It has been reported that MSCs transplantation can improve skin conditions to some extent8. Therefore, exogenous supplementation of MSCs may be an effective method. The term MSCs originated from the isolation of the bone marrow in 1988 Marrow Stromal Stem Cells9, and named Mesenchymal Stem cells by A.I. Caplan in 199110, ISCT changed to Mesenchymal Stromal Cells in 200611, A.I. Caplan himself applied to ISCT in 2017 to change Mesenchymal Stem Cells to Medicinal Signaling Cells12, ISCT stated in 2019 that it was not in favor of dropping the term mesenchymal and recommended that the acronym MSC continue to be used, but with a note on the functional definition13. The naming of MSCs is still controversial, but with further research, increasing evidence suggests that the therapeutic role of MSCs is largely attributed to their paracrine function.

In this paper, we focus on the study of UC-MSCs in skin aging. On the one hand, umbilical cords are medical waste, and as a result, using them avoids the limitation of source and ethical issues14,15,16,17,18. On the other hand, the efficacy of MSCs decreases with the increase of their number of divisions, because cell division shortens telomeres and leads to cell senescence19,20. An earlier 2012 follow-up study of patients with the acute graft-versa-host disease (GVHD) treated with MSCs showed a significant increase in one-year survival (75% vs 21%) in MSCs receiving early passage (from generation 12) compared to MSC patients receiving late passage (from generation 34)21. In addition, the regenerative potential of MSCs also decreases with the age of donors22. Therefore, the UC-MSCs are isolated from neonatal tissues and seem to be younger than other sources of MSCs23. Their high activity, increased pluripotency, low immunogenicity, and suitable paracrine effects have been indicated24,25. Previous studies have shown that UC-MSCs can be induced to differentiate into various types of functional cells in vitro, such as keratinocytes and dermal fibroblasts, which provides a variety of potential strategies for the treatment of skin diseases and the development of medical beauty products26. It also made many researchers once believe that the efficacy of MSCs is mainly played by their differentiation into specific functional cells, so that the efficacy of MSCs is infinitely amplified, resulting in over-marketing of Stemcells on the market. However, subsequent studies have seen little evidence that MSCs can differentiate into specific functional cells in vivo, so it is believed that the paracrine role of MSCs is the main way to exert their therapeutic effect. This may also be the reason why A.I. Caplan applied to ISCT in 2017 to change Mesenchymal Stem Cells to Medicinal Signaling Cells.

Human skin is a dynamic and complex organ that is composed of different cell types and functional regions. Like other organs, the skin ages and is characterized by structural destruction and gradual loss of function. Aging caused by genetic, metabolic, and other internal factors is called intrinsic aging, while aging caused by environmental factors such as ultraviolet rays, nutrition, air pollution, cigarettes, temperature, and pressure is called extrinsic aging27.

For naturally aging skin, histological changes mainly occur in the basal layer and dermis. The basal layer of the skin is located in the deepest layer of the epidermis and participates in the repair and regeneration of the skin. Studies have shown that the proliferation of basal cells of the skin, such as keratinocytes and melanocytes, decreases with age, resulting in a thinning of the skin epidermis28,29. Moreover, the fibrous ECM components such as elastin, fibrin, and collagen in the dermis degenerate, the skin is dehydrated, elasticity decreases, and wrinkles appear30,31. With age, the repair ability of skin cells decreases, resulting in intrinsic skin aging.

Extrinsic aging is far more serious than endogenous aging; ultraviolet radiation (UVR) has the greatest effect, accounting for 80% of facial skin aging32. In contrast to intrinsic aging, UVR thickens the epidermis and promotes the activation of epidermal melanocytes in exposed skin, resulting in pigmentation33. UVR on the skin leads to senescence and apoptosis of skin cells by directly damaging the deoxyribonucleic Acid (DNA), Ribonucleic Acid (RNA), and protein of skin cells34. Moreover, skin cells produce free radicals and reactive oxygen species (ROS) when subjected to UVR, which causes inflammation and promotes mitochondrial membrane potential (MMP) synthesis, indirectly leading to oxidative damage and ECM degradation of skin cells35,36. Photoaging also accelerates skin aging by superimposing intrinsic aging in chronological order.

The ultimate goal of researchers efforts investigating skin aging is to find ways to slow down the rate of aging and improve quality of life by regulating the mechanisms of skin aging. At present, it has been reported that plant extracts37, antioxidants38, growth factors, and cytokines39, as well as MSCs40, can alleviate skin aging41. Since cell therapy was first proposed by Swiss doctors in 1931, the field has made a breakthrough in the research of human diseases. Skin tissue is composed of a large number of mature functional cells, progenitor cells, and a small number of stem cells. Although adult tissue stem cells are rare, they play a major role in human health. The number of adult stem cells gradually decreases after birth, so supplementation with exogenous MSCs may be an effective way to promote tissue repair and regeneration. Umbilical cord mesenchymal stromal cells (UC-MSCs) have become a more promising therapeutic method because of their powerful paracrine function and the ability to secret various cytokines, growth factors, and exogenes to promote tissue regeneration and inhibit inflammatory response. However, MSCs therapy is still in the research stage, and a large amount of experimental data is needed to accelerate its clinical transformation. As of December 2023, over 2000 MSCs clinical trials have been registered at https://clinicaltrials.gov/, including over 400 UC-MSCs clinical trials. Including UC-MSCs for Diabetic Nephropathy, Ulcerative Colitis, Oral Chronic Graft-versus-host Disease, Diabetic Foot, Skin Grafts in Donor Site Wounds, Skin Rejuvenation, Skin Ulcers, and other diseases. This large amount of data reflects the broad interest of the scientific community in the potential therapeutic applications of MSCs. However, among the many clinical trials at different stages, we have collated nine clinical trials of UC-MSCs for skin-related diseases that have been completed and have reported results (Table 1). By combing through these trials, we can gain a clearer understanding of the application of UC-MSCs in clinical practice, as well as the challenges and future directions. Clinical trials are designed to evaluate the efficacy and safety of MSCs in the treatment of various diseases, but clinical trials currently face many difficulties, including developing standardized treatment protocols, monitoring cell survival and function in vivo, and the safety and long-term efficacy of cell therapy. These problems not only increase the complexity of clinical trials, but also limit their wide application in practice. In order to solve the challenges faced by clinical trials, pre-clinical basic research is crucial to provide a reliable theoretical and experimental basis for clinical trials. In the basic research, the establishment of an ideal experimental model is the premise of further research, here we mainly introduce the skin aging research model. Aging research on animal models can simulate the complex environment of human skin aging in combination with in vitro and in vivo aging factors and relatively accurately reflect the characteristics of skin aging, but the accuracy of these results still needs to be verified at the cellular and molecular levels. Cells are the basic unit of the human body; they can be isolated and expanded in vitro under suitable conditions and can reflect the process and law of human aging at the cellular level, so they are widely used as an experimental model in vitro. In order to facilitate the work of subsequent researchers, we have listed in detail the modeling conditions of the currently widely used research models in Table 2, aiming to provide clearer and convenient guidance for future basic research. However, it is worth noting that none of these studies calculated the percentage of actual engrafted cells relative to the total implanted cells, as the actual number of engrafted cells is crucial for assessing therapeutic efficacy. Therefore, future research may need to pay more attention to and carefully consider the calculation of the actual number of engrafted cells to comprehensively understand the effectiveness and mechanisms of MSC therapy.

UC-MSCs are a kind of mesenchymal stromal cell derived from neonatal umbilical cord tissue with abundant material sources, easy amplification, strong plasticity, low immunogenicity, high migration and homing activity, exocrine secretion, and the secretion of a variety of cytokines25. Compared with other MSCs currently used in basic and clinical research, such as adipose mesenchymal stromal cells (ADMSCs), bone marrow mesenchymal stromal cells (BMSCs), dental pulp stromal cells (DPSCs), embryonic stromal cells (ASCs), and neural stem cells (NSCs); UC-MSCs are derived from a wider range of sources; have no ethical or safety challenges; are easier to obtain, expand and store; and can fully meet clinical needs42. UC-MSCs can be induced to differentiate into many types of functional cells in vitro, which is of great significance for the clinical treatment of corresponding diseases. UC-MSCs have been used in the study of cardiovascular disease43, inflammatory bowel disease (IBD)44, chronic obstructive pneumonia (COPD)45, premature ovarian failure (POF)46, skin aging23, and other diseases, and their effectiveness has been proven. This paper mainly summarizes the research progress of UC-MSCs in skin aging. The mechanism of UC-MSCs in the treatment of skin aging can be summarized as promoting injury repair and skin regeneration through anti-inflammatory, antioxidative, and anti-glycosylation mechanisms, as shown in Fig. 1.

The skin shows structural and functional degradation under the action of internal and external factors, and UC-MSCs rejuvenate it by promoting injury repair and regeneration through anti-inflammatory, antioxidative, and anti-glycosylation mechanisms.

Skin tissue integrity, function, and regeneration decrease with age. An increasing number of studies have reported that UC-MSCs can promote the repair of damaged skin through the secretion of cytokines. The homing property of UC-MSCs is the key to their direct participation in the repair of skin injury. Many animal experiments have confirmed that when there is injury in the body, transplanted UC-MSCs can migrate to the injured site, differentiate, and replace injured cells using the chemotaxis of the injured tissue microenvironment47,48,49. However, with the deepening of the research, the view that MSCs differentiate and replace injured cells is no longer supported. After the importation of MSCs into the body, the amount of MSCs in the body is very small (<1%), suggesting that the repair of injuries may primarily involve the paracrine functions of MSCs (Table 3).

To study the role and fate of transfused MSCs, Yins research team explored the fate of type 2 diabetes (T2DM) mice intravenously injected with UC-MSCs compared with that in control mice. This study showed that UC-MSCs first reached the lungs and then migrated through the circulatory system to the spleen and liver. Compared with the control mice, the T2DM mice injected with UC-MSCs showed that the UC-MSCs homed to the islets. UC-MSC infusion not only effectively restored blood glucose homeostasis and reduced insulin resistance in mice but also improved hyperlipidemia and liver function in T2DM mice, suggesting that UC-MSC migration is closely related to tissue injury and can participate in tissue repair50. Zhang et al.51 applied UC-MSCs and UC-MSC-CM locally to the skin wounds of diabetic mice to study their therapeutic effects on wound healing. The results showed that UC-MSCs and UC-MSC-CM significantly increased the overall wound healing rate, improved angiogenesis, and increased the percentage of M2 macrophages in the wound area. Further observation of the local microenvironment of the wound tissue showed that the secreted levels of the anti-inflammatory factors IL-10 and VEGF increased, while the secreted levels of the proinflammatory factors TNF- and IL-6 were inhibited. It is suggested that UC-MSCs can play a role in injury repair by improving angiogenesis and regulating the local tissue microenvironment.

Repair and regeneration are often mistaken for the same concept. In fact, repair mainly refers to the recovery of tissue structure and function. In the context of skin, repair indicates that it may have scars and may not have hair follicles. Regeneration essentially refers to achieving a completely normal state through the proliferation of cells in skin tissue52. UC-MSCs can secrete and synthesize a variety of cytokines that promote cell growth and differentiation to regulate the local microenvironment, including FGF, EGF, VEGF, NGF, PDGF, CSF, and TNF53. These cytokines carry signaling information that can regenerate blood vessels, improve blood circulation, and promote tissue regeneration.

After skin injury model rats were treated with UCBMSC-exo and UCBMSCs, the skin appendages, blood vessels, and nerves were regenerated, the wound closure rate was significantly accelerated, and scarring was reduced54. Li et al.23 used an aging nude mouse model and HDF model to prove that UC-MSCs can increase the thickness of aging skin and the production of matrix collagen fibers, increase the proliferation and migration of human dermal fibroblasts (HDFs), and promote skin regeneration. In addition, an interesting study showed that UC-MSCs can also be used as carriers for gene transfer and drug delivery to enhance the expression of the target gene and can interact with cytokines to change the secretion level to enhance regeneration. The Wnt protein is the key mediator of skin development. Researchers obtained conditioned medium (Wnt-CM) containing Wnt7a from the supernatant of UC-MSCs overexpressing Wnt7a and injected it into the wounds of mice. It was found that the supernatant promoted wound healing, induced hair follicle regeneration, and enhanced the expression of the ECM and the migration of fibroblasts55.

Inflammation is a pathophysiological reaction after tissue injury and a protective defense response of tissues and organs to harmful stimuli. A certain degree of inflammation is beneficial, but excessive inflammation can lead to local tissue cell necrosis and dysfunction, and persistent chronic inflammation can hinder the growth or regeneration of functional cells in tissue56,57. Moreover, the human body is always exposed to various stimuli, and long-term inflammatory stimulation eventually leads to the degeneration of the structure and function of tissues and organs. Therefore, the reduction in inflammatory reactions may be beneficial to the regeneration of tissues and organs. Experiments showed that the gradual accumulation of senescent cells in the body increased the release of proinflammatory factors such as IL-6, IL-8, and TNF- and further promoted the occurrence of senescence58. Photoaging is the main form of skin aging. Long-term exposure to UVR accelerates the aging of skin under the action of inflammatory cells and proinflammatory cytokines59.

UC-MSCs exert their anti-inflammatory effect mainly by secreting cytokines, growth factors, anti-inflammatory factors, and exocrine factors to reduce the inflammatory response and enhance tissue repair. They can also directly interact with the surface molecules of immune cells and regulate the downstream pathways of immune cells, thus affecting cell proliferation, effector production, and cell survival60. Several Korean researchers have used antibody arrays to evaluate the concentrations of growth factors and cytokines in UC-MSC-CM. The results showed that UC-MSC-CM contained high concentrations of anti-inflammatory-related growth factors and cytokines, including EGF, TIMP-1, IGFBP-7, thrombin reactive protein-1, fibrinogen, and fibronectin61. The authors further tested the anti-inflammatory activity of UC-MSCs-CM on HaCaT cells stimulated with TNF- and INF-. The results showed that UC-MSC-CM had an inhibitory effect on the inflammatory cytokines TARC, TNF-, IL-1, and IL-6 and suggested that UC-MSC-CM had an anti-inflammatory effect. Li et al.62 confirmed that UCMSC treatment can reduce the expression levels of the proinflammatory cytokines TNF-, IL-1, and IL-6 in an LPS-induced rat model and concluded that UCMSC treatment can reduce systemic inflammation associated with LPS.

We know that continuous inflammation stimulates tissue fibroplasia, leading to tissue and organ fibrosis. Liu et al.63 used a rat model of renal interstitial fibrosis to evaluate the effect of UCMSC-CM on tubulointerstitial inflammation and fibrosis. The results showed that UCMSC-CM reduced the deposition of ECM, the infiltration of inflammatory cells, and the release of inflammatory factors in renal fibrosis by inhibiting the activation of the TLR4/NFB signaling pathway. Chens team64 injected UC-MSCs subcutaneously into psoriatic arthritis model mice and found that UC-MSCs inhibited skin inflammation and significantly ameliorated the pathological features of mice.

Oxidation is a process in which substances are decomposed to release energy and take place in the body regularly. When the body is in a normal physiological state, the oxidation capacity and antioxidant capacity are in dynamic balance. Once the production of free radicals (such as ROS) exceeds the bodys antioxidant capacity, the redox state is out of balance, and oxidative stress is induced65,66. Oxidative stress is accompanied by the processes of cell injury, inflammation, and metabolic disorders, which are involved in the pathology of many diseases and are considered to be the cause of aging. It has been reported that excessive ROS can directly oxidize DNA, proteins, and lipids, resulting in DNA damage, mitochondrial damage, protein damage, cell senescence, and even death67,68,69. According to the theory of free radical aging, ROS are mainly produced as a result of cell metabolism dysfunction and UVR; are generated by the mitochondrial electron transport chain, peroxisomes, and endoplasmic reticulum; and play a major role in skin aging70. ROS can activate the MAPK signaling pathway through a series of intermediates to promote the production of MMPs. MMPs can degrade collagen and elastin, resulting in increased and deepened skin wrinkles and a lack of elasticity71. ROS and the activated MAPK signaling pathway can also activate NFB, mediate the expression of inflammatory cytokines, further promote the production of ROS, and accelerate skin aging72,73.

There are few reports on the antioxidant effect of UC-MSCs on skin aging. Some scholars believe that UC-MSCs can directly alleviate mitochondrial dysfunction, thus blocking the production of more free radicals from dysfunctional mitochondria that accelerate aging, but the specific mechanism is not clear74. However, an increasing number of researchers have observed the antioxidant stress effect of UC-MSCs in aging animal models. Recently, it was reported that after UCMSC treatment of D-galactose-induced skin aging model nude mice, the levels of superoxide dismutase (SOD) in skin tissue increased significantly, while the levels of malondialdehyde decreased significantly, essentially returning to normal levels23. It is suggested that UCMSC treatment can enhance the ability of cells to scavenge free radicals, improve the antioxidant stress function of skin, and play a positive role in reducing cell senescence caused by oxidative stress. However, while the antioxidant effects of UCMSC treatment have been observed, the underlying mechanism is still not completely clear. Some scholars believe that UC-MSCs play an antioxidant stress role by directly scavenging free radicals, secreting bioactive enzymes, and regulating the function of mitochondria, but there is insufficient evidence75.

Advanced glycation end products (AGEs) are the products of nonenzymatic glycosylation and oxidation of proteins and lipids, which accumulate in inflammatory environments and during aging. The accumulated AGEs easily interact with collagen fibers in the dermis to produce glycosylated collagen in the body. The structural changes of glycosylated collagen increase skin fragility and decrease skin strength so that its biological function is reduced76,77. A new study showed that UC-MSCs can protect fibroblasts from AGE cytotoxicity by secreting cytokines and activating the PI3K/AKT/PTEN pathway78.

Senile diabetes is a very common chronic disease related to aging. The difficulty of healing skin wounds in patients with diabetes is a problem that urgently needs to be solved78. An in-depth study of the pathogenesis of diabetic dermatopathy found the root cause of diabetic wound formation and healing difficulty to be the accumulation of AGEs in the dermis. However, to date, only a few effective methods can inhibit and remove AGEs in wounds, and the emergence of MSCs therapy brings great hope to these diabetic patients79,80,81,82. Many researchers have studied the promoting effect of mesenchymal stromal cells from different sources on diabetic wound healing. The results show that BMSCs and UC-MSCs can effectively promote diabetic skin wound healing83,84.

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Role of umbilical cord mesenchymal stromal cells in skin rejuvenation | npj Regenerative Medicine - Nature.com

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Among cardiologists, its known that transthyretin cardiac amyloidosis, a type of heart disease, is caused by the misfolding of a protein called transthyretin, which builds up in the walls of the heart, causing the muscle to get thicker and stiffer. One reason this can happen is because of a genetic mutation caused by the gene variant V142I, which is commonly found in people of West African descent. In a new study published Sunday in the Journal of the American Medical Association, researchers found that the 3%-4% of self-identified Black individuals carrying this variant had an increased risk for heart failure and death.

Heart failure affects African Americans at nearly twice the rate that it affects white people in the U.S. and the reason may in part be due to ancestry, not race. But even though the link between V142I and heart failure is well known, researchers did not know how the variant affects peoples risk of heart failure and its association with preserved heart function. Previously, researchers would study patients who already had the disease and came in for treatment. In this study, researchers from Brigham and Womens Hospital and Duke University School of Medicine looked at the natural history of the disease by drawing on data from four National Institutes of Health-funded studies in the U.S. Their findings suggest an opportunity to provide more genetic counseling and screening for African Americans.

Notably, these studies were not designed to look at amyloid heart disease specifically, but to obtain genotyping data in healthy women and individuals with various risk factors, such as stroke and atherosclerosis.

It would inform us and clinicians and patients regarding the likelihood that an individual at a given time in their life who has this genetic mutation might develop this disease. And the reason thats becoming more important is that there are now some therapies that are available for the first time, really only in the last few years, that are available for amyloid heart disease, said Scott Solomon, senior author of the paper and professor of medicine at Brigham and Womens Hospital and Harvard Medical School.

Using this large dataset, the researchers analyzed data from 23,338 self-reported Black individuals, out of whom 754, or a little over 3% of them, carried the V142I variant. They found that the genetic variant increased the risk for heart failure hospitalization by age 63 and the risk of death by age 72.

Thats earlier than we thought, said Senthil Selvaraj, the papers first author and an advanced heart failure physician-scientist at Duke University School of Medicine. Previously, researchers had thought that risk of hospitalization occurred in the 70s.

He added that they found that men and women also have a similar risk for disease, which suggests that women are fairly likely to be underdiagnosed with this form of amyloid heart disease. Women in general tend to have less thick walls, which means that even though amyloid heart disease thickens the walls, it could still be missed. The researchers also were unable to determine, among people who had the variant, whether they were hospitalized because of the condition or some other risk factor or combination of risk factors, such as high blood pressure or diabetes.

The researchers also looked at the burden this mutation has on a persons life span. On average, people who carry the variant live two to two and a half years less than a non-carrier. Approximately 13 million Black Americans are over the age of 50, and the researchers estimated that nearly half a million people over 50 are carriers of the variant. This means that the contemporary population of Black Americans will live about a million fewer years due to the variant, Selvaraj said. That might even be a conservative estimate, according to the editorial published with the study written by Clyde Yancy, professor and chief of cardiology at Northwestern University Feinberg School and Medicine and deputy editor for JAMA Cardiology.

Yet the implications for screening and genetic counseling are not obvious. While this variant is found in people with West African ancestry, the increased risk of heart failure and death does not only affect people who self-identify as Black.

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This kind of work is incredibly important, because we have to accept the evident truth that we as scientists understand: Race does not infer biology. Period. Hard stop. No modifiers, no adjectives. Race is a social variable, and relates to culturation, it relates to experiences, but does not infer biology. Period, Yancy told STAT. The color of your skin does not protect you from having this variant. He gave an example of a delightful white patient under his care who is currently being treated for amyloid heart disease and has the V1421 gene.

Selvaraj acknowledged that since the variant is found in people with West African ancestry, this is a global disease and people with various ethnic backgrounds may carry the variant as well.

Its impossible to know the worldwide burden of disease, but, in some ways, this is sort of the tip of the iceberg, Selvaraj said.

I think it was a well-done study, said Evan Kransdorf, an assistant professor of cardiology and a member of the cardiogenetics team at Cedars-Sinai in Los Angeles, who was not part of the study. Besides increasing screening, he said theres also an opportunity to pursue other areas of research. We would like to know how treatment would affect and modify the outcome, but obviously, that is a whole different study and can be difficult because in the last few years theres been a lot of rapid advancements in the field in the treatment of amyloidosis. One treatment is the drug tafamidis, which prevents the misfolding of the protein transthyretin. A gene-editing therapy is currently in clinical trials.

Yancy, who wrote one of the two editorials accompanying this study, saidits the presence of the V1421 gene itself that gives reason to heighten surveillance not because of race, but because of detectable genetic risk variables. Screening for the mutations should be made available for all people with a suitable disease phenotype, he argued in his editorial. This would be a similar practice to the race-agnostic screening for APOL1 in kidney disease.

We have to figure out, how do we get a reluctant patient cohort to agree to this kind of sophisticated genetic screening? First, that is counseling, and then the genetic testing, and how do we pay for it? he said. According to Yancys editorial, outside of commercial payers, patients on Medicare are only able to get cancer screenings, and Medicaid in most states does not cover genetic testing. It could be that these kinds of conversations will encourage CMS to revisit coverage decisions, wouldnt that be a really wonderful outcome? Yancy said.

In order to convince a reluctant patient, Kransdorf said that education is important. I say Hey, theres an 80% chance that Im not going to be giving you any useful information, but theres a 20% chance Im going to be giving you very useful information. Keeping that information in mind, a patient can decide on whether the odds are worth possibly confirming a genetic link to their disease.

As science moves toward race-agnostic research, Kransdorf believes that focusing on genetics will be a big component to developing individualized or precision medicine. Obviously, were not quite there yet, but I think maybe in five or 10 years, well be starting to get there. He added robust genetic testing should pave the way. Actual testing will be able to give us much more precise abilities to diagnose and potentially treat people. I think that we will be able to use genetic information to get past these kind of crude estimates.

Read more:
Study: People of West African ancestry at greater risk of cardiac amyloidosis - STAT

Recommendation and review posted by Bethany Smith

ROCHESTER, N.Y. There is an effort to catch the attention of younger women about the importance of screening for cancer and to let them know that some women under the age of 40 may want to learn about genetic testing.

The whole purpose of doing genetic testing is not to scare people, its to arm them with information, said certified genetic counselor Jessica Salamone of Elizabeth Wende Breast Care.

Visitors there may receive multiple layers of screening including genetic testing.

The whole purpose of cancer screening and a risk assessment program like ours is to save lives, is to make diagnosis that arereallysort of minimal stage, said Salamone.

Breast cancer screening guidelines recently changed recommending women receive a mammogram at age 40 rather than 50 and every other year. The leaders at EWBC, leading radiologistsandother health experts say women as young as 25 years old should have a risk assessment.

So we identify that your family history of breast cancer may be indicative for the patient and then it may be indicative of other cancers that we need to be screening and testing for, said Salamone.

The risk assessment takes a look at all of the patients risk factors with a deep dive into family history.

Theres a percentage of cancer that can be traced back to a genetic mutation and so knowing your family history is key," Salamone said. "Paying attention and learning what happened to the men and women above you sort of in your pedigree in your family line isreallyimportant."

She says being at risk for one cancer could mean you are at risk for others.

In genetics, the fancy term is called variable expression," Salamone said. "The same gene can cause a variety of cancers. And so, somebody like me sits down, interviews my patient and looks through the generations of cancer.

It may be the last thing a 25-year-old is thinking about.

Young women may not know what guideline to follow," Salamone said. "Young women may not know exactly when to begin. They often rely on their physician to tell them."

EWBC is hosting a virtual seminar on Thursday at 6 p.m.in an effort toreach out to those younger women who should start thinking and talking about screening and testing potentially in their 20s and 30s.

I would encourage people who are nervous or a little scared to just come and have the conversation," Salamone said. "No ones going to say you have to do this. Anybody in my role is going to say, how can I align and partner with you to help avoid something thats been generational in your family and how can we help you live a long healthy life and be around for those future generations."

You can visitEWBC.comto learn more about the workshop.

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Catching and preventing cancer in younger women - Spectrum News

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In the rapidly evolving landscape of healthcare, the expansion of genetic testing stands out as a monumental leap forward. The field of genetic testing has grown exponentially over the past decade, with available tests skyrocketing from 10,000 in 2012 to over 175,000 today a staggering 1650% increase with an estimated ten new tests introduced daily. And as the link between genetics and diseases is better understood, genetic testing is being applied across new specialties. While this diagnostics revolution holds immense potential to transform personalized medicine through early risk detection and personalized treatment plans, it also presents significant challenges particularly around payment accuracy.

Current challenges faced by health plans

While the use of genetic testing surges, health plans grapple with challenges influencing appropriate spending, administrative costs, and operational efficiency. Some key issues include:

As health plans struggle to keep pace with advancements in genetic testing, there is a pressing need for solutions to streamline processes, improve accuracy, and reduce administrative waste.

The power of strategic partnerships and specialized expertise

To address genetic testing claims complexity, as well as aligning payment with appropriate rules and reimbursement methodology, health plans are increasingly partnering with specialized companies with applied expertise in this domain. These collaborations aim to bridge the gap between clinical knowledge and administrative processes, enabling payers to better navigate the intricacies of payment accuracy related to genetic testing.

By leveraging the capabilities of specialized partners, health plans can access technologies such as AI-powered claims editing systems, which can identify and correct coding errors, detect potential fraud, and ensure compliance with evidence-based policies and guidelines. These solutions not only improve payment accuracy but also reduce the manual review burden on health plan staff.

Strategic partnerships also can help health plans stay ahead of the curve on policy development and provider education. Specialized companies often have dedicated clinical teams that continuously monitor the latest advancements and translate this knowledge into actionable insights. This includes developing policies around genetic testing administration and educating on test ordering and claim submission best practices.

Recommended solutions for health plans

To better manage genetic testing claims and improve overall outcomes, health plans should consider the following recommendations:

Collaboration, transparency, and innovation

The key to success lies in fostering a collaborative ecosystem that prioritizes transparency, education, and innovation. Health plans, partners, and providers must work together to ensure that the benefits of genetic testing are realized while maintaining payment integrity, which ultimately benefits patients by giving them a clear understanding of not only of their clinical situation, but their financial obligation.

This collaboration should focus on developing clear, evidence-based policies for coverage and reimbursement: Investing in solutions to automate claims processing and fraud detection, educating providers, and ensuring transparency among all stakeholders.

By embracing strategic partnerships and innovative solutions, health plans can manage the complexities of genetic testing claims while unlocking the immense potential of precision medicine to improve patient outcomes and drive healthcare transformation.

Photo by Flickr user Petra B. Fritz

Brian Berkowitz is the vice president of strategy & corporate development at Lyric, a health tech company dedicated to helping simplify the business of care. He leverages his deep, proven healthcare domain expertise and dynamic problem-solving skills to catalyze growth for the organization, which helps improve payment accuracy and integrity for eight of the nine top payers and many health plans covering more than 185 million individuals.

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Navigating the Complexities of Payment for Genetic Testing - MedCity News

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According to recent study by nova one advisor, the U.S. next generation sequencing market size was estimated at USD 4.10 billion in 2023 and is expected to be worth around USD 25.71 billion by 2033 with a CAGR of 20.15% from 2024 to 2033.

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The rise in the prevalence of chronic diseases like cancer and the necessity for early diagnosis are among the factors contributing to the expansion, along with technological advancements and the growing need for individualized therapy. The growing number of partnerships and joint ventures between industry participants, as well as increased investment, are anticipated to positively affect market expansion. For example, in September 2023, the clinical-stage biotech business Neuron23, based in the United States, teamed up with QIAGEN to develop an additional diagnostic tool for Neuron23's LRRK2 inhibitor, which is meant to treat Parkinson's disease. The assay utilized in this cooperation is incorporated into an NGS workflow, which leverages QIAGEN's Sample to Insight capabilities.

The U.S. government's sponsorship of numerous programs has contributed significantly to the growth of the NGS business. Funding for public health projects, such as genetic surveillance programs, is provided by the CDC. The American Rescue Plan set aside USD 1.7 billion in September 2022 to fund current and future genome surveillance initiatives. There is USD 90 million allotted to maintaining the Pathogen Genomics Centers of Excellence network for the next five years, out of the USD 400 million allotted for innovation. The use of NGS in public health laboratories is made possible by CDC funding, which improves these facilities' abilities to identify, characterize, and respond to pathogens.

Furthermore, a significant amount of funding for biomedical research, particularly initiatives pertaining to NGS and genomes, is provided by the NIH. NGS technologies are used by researchers and institutions that get NIH grants to investigate different diseases, comprehend genetic components, and create personalized medical strategies. This funding encourages innovation and technological improvement in the NGS sector by supporting basic research and translational projects. 2018 saw the launch of the NIH-funded Somatic Cell Genome Editing program, which aims to remove barriers to the clinical use of genome editing techniques for the treatment of various illnesses. The NIH Common Fund provides support for this project.

In addition, the rising incidence of cancer in the United States is anticipated to bolster the expansion of the NGS market. According to the American Cancer Society's projections, there would be 611,720 cancer-related fatalities and 2,001,140 new cancer cases in the United States by 2024. In oncology, NGS is widely used for tumor profiling, genetic mutation identification, and therapy response prediction. The development of targeted therapeutics and the molecular characterization of tumors are two key applications of cancer genomics that are propelling the NGS market.

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Key Takeaways:

Next Generation Sequencing Market Size in the global 2024 to 2033

The global next generation sequencing market in terms of revenue was estimated to be worth USD 9.19 billion in 2023 and is poised to reach USD 66.04 billion by 2033, growing at a CAGR of 21.8% from 2024 to 2033,North America dominated the NGS market with a share of 49.35% in 2023.

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What Are Next Generation Sequencing Used For?

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Segments Insights:

Technology Insights

The targeted sequencing and resequencing segment held the largest revenue share of 71.15% in 2023 and is expected to witness the fastest CAGR over the forecast period. Targeted sequencing and resequencing technologies are mainly adopted for clinical applications, such as cancer diagnostics, prenatal testing, and genetic disease screening. The ability to analyze specific genomic areas makes these technologies accurately and efficiently well-suited for clinical use, driving their widespread adoption in the healthcare industry. In addition, advances in targeted sequencing and resequencing technologies have led to increased sequencing throughput, allowing researchers to analyze larger numbers of samples simultaneously. This increased throughput enables more efficient study designs and accelerates the pace of research.

The whole genome sequencing (WGS) segment is anticipated to witness significant growth by 2033 due to the increasing adoption of precision medicine and personalized healthcare. With advancements in WGS technology, it has become possible to sequence an individual's entire genome, providing valuable insights into genetic variations and potential disease risks. This has led to the development of targeted therapies and personalized treatment plans, which can improve patient outcomes and reduce healthcare costs. Additionally, the decreasing costs of WGS and the increasing availability of sequencing services have made it more accessible to researchers and clinicians, further driving the growth of this segment.

Product Insights

The consumables segment accounted for the larger revenue share in 2023 and it is anticipated to grow at the fastest CAGR of 21.06% over the forecast period. The dominance can be attributed to the high demand for sequencing reagents, kits, and other consumables required for NGS procedures. As NGS technologies are more widely adopted in research and clinical settings, the demand for consumables is expected to continue to increase. In addition, advancements in sequencing technologies are resulting in new applications and workflows, which is further driving the demand for new and innovative consumables.

The platforms segment is expected to witness significant growth from 2024 to 2033, due to the increasing demand for better and more advanced sequencing platforms. Several companies are investing heavily in the development of new and innovative platforms that can provide faster and more accurate sequencing results. For instance, in April 2022, Thermo Fisher Scientific introduced the Ion Torrent Genexus Dx Integrated Sequencer. It is a CE-IVD marked and automated NGS platform designed to provide results within a single day. These trends are expected to continue in the coming years, driving further growth in the platform product segment.

Workflow Insights

In 2023, the sequencing segment held the largest market share of 57.63%. Sequencing workflow involves a comprehensive process of sequencing, which is critical for obtaining accurate and reliable results. It includes numerous steps, such as sample preparation, sequencing, and data analysis. The market for sequencing workflow is expected to grow further in the coming years as the demand for NGS-based research and clinical applications continues to increase.

The NGS data analysis segment is expected to grow at the highest CAGR over the forecast period, due to the increasing demand for efficient and accurate analysis of genomic data. With the growing adoption of NGS technology in various applications such as drug discovery, clinical diagnostics, and personalized medicine, the demand for NGS data analysis is expected to rise. Additionally, the availability of advanced software and tools for NGS data analysis is also contributing to the growth of this segment.

Application Insights

In 2023, the oncology segment held the largest market share of 26.69%, due to the increasing prevalence of cancer in the country. NGS technology has revolutionized cancer diagnosis and treatment by allowing for more accurate and comprehensive genomic analysis of tumors, leading to personalized and targeted therapies. Additionally, ongoing research and development in the field of oncology is driving the demand for NGS applications in this area.

The consumer genomics segment is expected to grow at the highest CAGR of 22.77% during the forecast period. There is a growing interest among consumers in learning about their genetic makeup, ancestry, and predisposition to certain health conditions. Direct-to-consumer (DTC) genetic testing companies offer affordable and convenient NGS-based DNA testing kits that provide consumers with insights into their genetic traits, ancestry, and potential health risks. This increasing consumer interest is expected to drive the demand for consumer genomics applications. Technological advancements in NGS have led to a significant reduction in the cost of sequencing, making it more accessible to consumers. As the cost of sequencing continues to decline and the efficiency of NGS platforms improves, consumer genomics companies can offer more comprehensive and affordable genetic testing services, further fueling market growth.

End-use Insights

In 2023, academic research held the largest market share of 50.59%. Academic institutions are at the forefront of genomic research and innovation. Researchers in academia are driven by interest and the purpose of knowledge, leading them to explore diverse areas of genomics using NGS technology. Their pioneering work drives the development of new sequencing methodologies, data analysis techniques, and applications, shaping the direction of the entire field. Government funding agencies, private foundations, and research grants often support academic research. These funding sources provide financial support for purchasing NGS equipment, reagents, and computational resources necessary for conducting genomic studies. The availability of funding enables academic researchers to invest in NGS technology and infrastructure, contributing to the growth of the market.

The clinical research segment is expected to grow at the highest CAGR of 22.85% from 2024 to 2033. Regulatory agencies such as the U.S. Food and Drug Administration (FDA) have approved several NGS-based tests and assays for clinical use, particularly in oncology and infectious diseases. The establishment of regulatory frameworks and guidelines for NGS-based diagnostics has increased confidence in the reliability and accuracy of genomic testing, facilitating the adoption of NGS technology in clinical research. As regulatory approvals for NGS-based tests continue to expand across different therapeutic areas, the demand for NGS in clinical research is expected to grow.

Recent Developments

Key U.S. Next Generation Sequencing Companies:

Segments Covered in the Report

This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2033. For this study, Nova one advisor, Inc. has segmented the U.S. Next Generation Sequencing market.

By Technology

By Product

By Application

By Workflow

By End-use

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U.S. Next Generation Sequencing Market Size to Worth USD 25.71 Bn by 2033 - BioSpace

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Background

American Society of Breast Surgeons (ASBrS) consensus guidelines recommend genetic testing be available to all patients with a personal history of breast cancer, with the National Comprehensive Cancer Network allowing for multigene panel testing beyond the most common pathogenic variants of breast cancer. Genetic counseling is typically provided by breast surgeons or genetic counselors. However, there are no formal recommendations for the breadth of genes to be tested.

The ASBrS asserts genetic testing should occur in the context of informed consent. In this context, the breadth of genetic testing should be decided by the patient following pretest counseling.

Choice architecture posits that decisions are influenced by how choices are presented. Depending on the bias of the choice architect, be it surgeon or genetic counselor, there may be differences in the size of panels ordered for which there should be none.

Breast surgeons (n=4) and genetic counselors (n= 5) with more than 50 genetic test orders among the breast cancer population within a 7-hospital system were audited over a 3-year period (n=3912 tests). The median number of genes ordered was used to create order categories: less than median vs at least median. Chi-square analyses were used to compare the relationships between order category and clinician as well as order category and clinicians role.

Genetic Tests Ordered by Breast Surgeons and Genetic Counselors

The median number of genes tested was 48 (IQR, 32-85). There were significant differences in the proportion of orders above the median among the 4 breast surgeons (P<.001) as well as among the 5 genetic counselors (P<.001). In contrast, there was no difference in the proportion of orders above the median between the 2 clinician groups (P=.50).

These data lack propensity-matching of the breast cancer populations, yet there is significant anchoring in 5 of 9 clinicians, where greater than 90% of their panels are either greater or fewer than the median. This suggests a wide variation in the pretest counseling provided among both breast surgeons and genetic counselors. The differences in ordering panels indicates further research and guidelines may be warranted in this rapidly evolving component of the care of patients with breast cancer.

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63 Choice Architecture Bias in Genetic Counseling of Breast Cancer Patients - Cancer Network

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