MedComp Sciences is a company that provides DNA-based medical testing services to clinical healthcare providers. Brad Schaeffer is the Founder of MedComp Sciences and below he discusses a few instances of genetic testing and DNA making their way into the news.

For those who are unfamiliar, genetic testing refers to the process of sequencing human DNA to discover genetic mutations, anomalies, or differences.

The world of genetic testing is extremely varied, being used for everything from medical diagnostic purposes to solving cold cases. Recent breaking news stories have shone a light on the benefits and fascinating nature of this advancing science.

John Wayne Gacy was an infamous serial killer who operated in the Chicago area during the 1970s. Gacy was caught and arrested in 1978 when authorities discovered 29 bodies of young men and boys buried underneath his home. Until 2011, there were eight remaining unidentified victims. Gacy stacked these bodies one on top of the other. Due to his burial ritual, investigators could only determine who died first. Other than this, they didnt even have a timeline available to start tracking missing person cases.

Up until just a few days ago, Francis Wayne Alexander was one of those unidentified victims. After losing touch with Alexander in the late 1970s, his North Carolina-based family simply thought he had cut off communication with them and continued to live his life in Chicago.

After more than 40 years, Francis Wayne Alexander has now been confirmed as the fifth victim of Gacy following a breakthrough in testing the genetic evidence.

In 2011 a large-scale effort was made to begin genetic testing the then eight unknown Gacy victims. Each victim was exhumed and genetically tested. Once the DNA profiles were gathered, the investigation team put out a nationwide call. The group asked for any individuals who had male relatives disappear in or around Chicago in the 1970s to come forward. The newfound genetic profiles could now be compared to relative DNA samples to determine if any of the victims matched.

Within weeks of this new effort, William Bundy, then 19-years-old, was identified through genetic testing as a victim of Gacy. In 2017 Jimmy Haakenson, who was only 16-years-old when he disappeared, was identified. And now Francis Wayne Alexanders family has received the closure they deserve.

Police have expressed their appreciation of this genetic testing. Alexander would have never been considered a victim of Gacys without this testing. Previously, the only information on Alexander available were a few traffic tickets, the last of which was issued in January 1976. He also didnt fit the typical victim profile, so its unlikely that even if his family did report him missing, they could have made any connection.

While Haakenson and Bundys families responded to the initial request to submit their DNA, Alexander was identified through a genetic testing organization called the DNA Doe Project. This organization worked closely with the sheriffs office to compare DNA profiles of unknown victims to profiles on genealogy websites. This would ideally match the unidentified victim to potential relatives, giving detectives a place to begin the investigation. Once a match is believed to be found, living relatives are asked to submit DNA samples to verify results.

In addition to identifying Gacys three unknown victims, DNA submissions helped solve at least 11 cold cases of homicides, none of which had any connection to Gacy. Several families were also able to find relatives who were still alive, although still considered missing.

According to a recent report by Qualiket Research, the global genetic testing market is expected to enjoy a substantial amount of growth in the next six years or so, growing from $7,985 million in 2020 to an impressive $15,127 million by 2027.

Brad Schaeffer of MedComp Sciences says that growing advancements in technology have increased the opportunity for market expansion and a focus by various governments to both create awareness and regulation of genetic tests.

Newborn and prenatal genetic testing has seen the most success, boasting the highest revenue in 2020. This trend is expected to continue over the next few years.

November 2020 also saw the expanded approval of cancer blood tests, also referred to as liquid biopsy, by the Food and Drug Administration. This type of genetic testing can detect genetic changes in tumor DNA through the blood, helping patients match potential treatments.

News revolving around genetic testing will continue to roll in, according to Brad Schaeffer of MedComp Sciences, especially as the industry and related technology grow. With new advances in methods and increased availability, its no wonder that such a projected increase in growth for the field and new applications is being predicted.

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Europe Hereditary Genetic Testing Market to Reach $19. 31 Billion by 2031. Market Report Coverage - Europe Hereditary Genetic Testing Market Segmentation.

New York, Nov. 02, 2021 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Europe Hereditary Genetic Testing Market - A Regional Analysis: Focus on Products, Sample Type, Applications, and Nordic and Baltic Region, Country Data (12 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2031" - https://www.reportlinker.com/p06178588/?utm_source=GNW

Product Kits, Consumables, Services, Others Sample Type Tumor Tissue, Bone Marrow, Blood, Saliva, Others Application Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, Prenatal Screening and Preimplantation Testing, Rare Disease Testing, Direct-to-Consumer (DTC) Testing

Regional Segmentation

EU5: Germany, U.K., France, Italy, Spain Nordic Region: Finland, Sweden, Denmark, Norway Baltic Region: Estonia, Lithuania, Latvia

Market Growth Drivers

Increasing Awareness Toward Hereditary Genetic Testing Rising Prevalence of Genetic Disorders Increasing Research Funding in the Field of Genomics

Market Challenges

High Cost of Genetic Testing Stringent Regulatory Standards

Market Opportunities

Technological Advancements in the Hereditary Genetic Testing Process Growing Demand for Direct-to-Consumer (DTC) Testing Service

Key Companies Profiled

Agilent Technologies, Inc., Woble Helsinki Oy, Negen Oy, Devyser, CeGat GmbH, Beijing Genomics Institute (BGI), BerGenBio ASA, Eurofins Scientific SE, F. Hoffmann-La Roche Ltd, Illumina, Inc., Myriad Genetics, Inc., Alnylam Pharmaceuticals, Inc., Quest Diagnostics Incorporated, Thermo Fisher Scientific Inc.

Key Questions Answered in this Report: What is the current trend in the Europe hereditary genetic testing market? Based on products, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on sample type, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on types of testing, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on countries, which country is anticipated to witness a massive rise in demand during the forecast period 2021-2031? What are the major drivers, challenges, and opportunities in the Europe hereditary genetic testing market? What are the key developmental strategies implemented by the key players to stand out in this market? Which leading companies are dominating the Europe hereditary genetic testing market, and what is the share of these companies in the Europe hereditary genetic testing market? What are the regulations pertaining to the Europe hereditary genetic testing market, and what initiatives have been implemented by different government bodies regulating the development and commercialization of Europe hereditary genetic testing? How is each segment of the Europe hereditary genetic testing market expected to grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2031? How is the market for Europe hereditary genetic testing expected to evolve during the forecast period 2021-2031? What is the market scenario for the Europe hereditary genetic testing market in different countries? What are the key trends of different regions in the Europe hereditary genetic testing market? Which country is expected to contribute to the highest sales in the Europe hereditary genetic testing market during the forecast period 2021-2031?

Market Overview

Genetic testing is a type of DNA testing used to determine changes in chromosome structure or DNA sequence.Genetic testing can also include measuring the outcomes of genetic modifications, such as mutation, RNA analysis as an output of gene expression, or biochemical analysis to measure specific protein output.

For cancer risk, genetic testing includes testing for inherited genetic variants that can be associated with a high to moderately increased risk of cancer in the patient and are responsible for inherited cancer susceptibility syndromes.

Hereditary genetic testing classifies changes in chromosomes, genes, and proteins.The outcome of hereditary genetic testing authorizes a suspected genetic condition that further helps to determine a persons chance of passing or developing a genetic disorder.

To date, more than 1,000 hereditary genetic tests have been used, and many others are being developed for testing.

Europe is one of the powerhouses for genomic science and research.Genetic testing data sharing is becoming an integral part as scientists join forces across borders for enabling genetic testing for the benefit of mankind.

Genetic testing can be performed for various purposes, which may or may not fall in medical science.Thus, regulatory needs depend on the context of the test being performed and for which purpose.

It can be either to detect monogenic diseases, medical-nonmedical purposes, predispositions or carrier tests, diagnostic and treatment purposes, predictive tests for late-onset diseases, drug response, family planning, forensics, population screening, and DNA profiling or research.

With several companies eagerly competing to establish dominance in the Europe hereditary genetic testing market, several emerging companies have undertaken significant activities to establish their position in the market. Although these companies are currently far behind the market leaders, some of them have made significant strides to grow into major players, owing to initiatives undertaken to expand their respective product portfolios and regional footprints.

BIS healthcare experts have found hereditary genetic testing to be one of the most rapidly evolving markets. The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031. As per BIS research, hereditary genetic testing comprises the ecosystem of multiple services offered, products used, and the target population.

The optimistic scenario of the market can be witnessed if the COVID-19 recovery is swift across key countries in Europe.The scenario assumes an increasing demand for technology, products, services, and growth in the end-user base across regions.

Furthermore, the scenario also assumes more product and service launches for genetic testing, especially in the Nordic and Baltic regions. Additionally, the companies in the market are investing more in rare disease and reproductive genetics, which is one of the bolstering factors for optimistic growth.

The following report presents the reader with an opportunity to unlock comprehensive insights with respect to the Europe hereditary genetic testing market and helps in forming well-informed strategic decisions. The market research study also offers a wide perspective of the different types of hereditary genetic testing products and services available in the market and their impact on the diagnostic and genomics industry by providing critical insights into the direction of its future expansion.

The Europe hereditary genetic testing market has been growing since its inception. Several European countries, including Germany, France, the U.K., Italy, Spain, Denmark, Finland, Sweden, Norway, Estonia, Lithuania, and Latvia, are working persistently to enhance the adoption of precision medicine solutions, including hereditary genetic testing market, across Europe region. Acknowledging the unique role of hereditary genetic testing is a significant step toward the establishment of a suitable and effective regulatory approval procedure, coupled with an effective pricing strategy and reimbursement policy. However, country-specific technology evaluation and reimbursement policies in Europe may result in different coverage for many genetic testing technologies across Europe. For instance, in France, Germany, Italy, and the U.K., HER2 testing is publicly funded. However, in Spain, the majority of NGS testing is funded by hereditary-based test manufactures. Therefore, companies are trying to work closely with the payers and other decision-makers to increase the adoption on a country-by-country, and in few cases, hospital-by-hospital basis, which generally limits accessibility and results in a poor adoption rate.

Germany accounted for the maximum share of the market within the Europe region in 2020.The country has one of the biggest pharmaceutical markets in Europe.

Further, it is among the largest exporter of medicinal products and ranks among the top pharmaceutical producers globally.The growth in this region can be primarily attributed to the rising pharmaceutical R&D expenditure, increasing geriatric population coupled with growing disease prevalence, and the rising focus to eradicate rare diseases across the region.

However, the region also faces high competition from the Asian economies that offer cheap manufacturing materials and low cost of labor.

Within the research report, the market is segmented based on products, sample type, applications, and region.Each of these segments has been further categorized into sub-segments to compile an in-depth study.

Each of these segments covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

The Europe hereditary genetic testing market is largely dominated by companies such as Woble Helsinki Oy, Negen Oy, Devyser, CeGaT GmbH, Beijing Genomics Institute (BGI), BerGenBio ASA, Eurofins Scientific SE, F. Hoffmann-La Roche Ltd, Illumina, Inc., Laboratory Corporation of America Holdings, Myriad Genetics, Inc., Alnylam Pharmaceuticals, Inc., Quest Diagnostics Incorporated, and Thermo Fisher Scientific Inc.

Companies such as LabCorp, Illumina, Myriad, and Quest Diagnostics are the leading suppliers of genetic testing products and services in the Europe market.When compared to the other European countries, the Nordic and Baltic region is mainly dominated by Bluprint Genetics (Quest Diagnostics) and Eurofins.

In addition, regional players such as Devyser, CeGat GmbH, and Negen Oy offer products in the markets.

Among the Nordic and Baltic regions, the Nordic region contributes more to the Europe hereditary genetic testing market.The country which performs the largest number of genetic tests in the Nordic region is Finland.

A lot of investment in research for characterization of the population for rare diseases has been made in Finland by Blueprint Genetics.

Countries Covered EU5 Germany U.K. France Italy Spain Nordic Region Finland Sweden Denmark Norway Baltic Region Estonia Lithuania LatviaRead the full report: https://www.reportlinker.com/p06178588/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031 - Yahoo Finance

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This Breast Cancer Awareness Month, let us learn who is more susceptible to the disease and what tests do you need to get timely treatment for it.

Written by Editorial Team | Updated : November 1, 2021 10:31 AM IST

We all go through life with a lot of hesitation. With time, we have been made aware of the fact that our family and genes can tell us about some of the diseases we are more vulnerable to. Our genes try to show us what to be cautious of, however, some of us end up denying and running from it. So far, science has helped us understand that all cancers are genetic, while they may not be hereditary. We have a pair of each gene. To be able to disrupt the gene, there is a mutation in both the copies and that's how it makes the gene non-functional and predisposes the cells carrying the mutation to divide indefinitely. However, if some patients already have a damaged copy of a gene that is important in this cell cycle or repair of DNA, inherited from their parents, the patient would be at an increased risk of developing hereditary cancer.

This World Breast Cancer Month, we would like to talk about one such issue and one disease which can be passed down to the next generation. And why timely testing can help us. BRCA1 and BRCA2 are two genes that are important to fighting cancer. They are tumour suppressor genes. When they work normally, these genes help keep breast, ovarian, and other types of cells from growing and dividing too rapidly or in an uncontrolled way.

The gene testing for BRCA is performed on those whose close blood relatives have suffered from breast cancer. The test is a blood test that uses DNA analysis to identify harmful changes in either one of the two breast cancer susceptibility genes.

People who may have an inherited mutation based on personal or family history of breast cancer or ovarian cancer are at an increased risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test isn't routinely performed on people at average risk of breast and ovarian cancers. The average lifetime risk of breast cancer for women is about 12%. For women who have a BRCA1 or BRCA2 mutation, the risk of developing breast cancer in your lifetime is between 69% and 72%, about 6 times greater than that of a woman who does not have the mutation. One must also understand that only 15% to 20% of women with ovarian or breast cancer have BRCA and other mutations that are definitely known to cause cancer.

These gene mutations in BRCA1 or BRCA2, significantly increase the risk of:

If a gene mutation is detected, one can work together with their doctor to manage the risk. There's no risk associated with being tested for a BRCA gene mutation other than the slight risks, including light-headedness, bleeding or bruising of having blood drawn. However, less talked about are the emotional and social consequences surrounding genetic testing and of the test results.

The journey will be fuelled with emotions, whatever be the results. If one tests positive for an inherited genetic mutation, they have feelings of anxiety, anger, sadness or depression, concerns over possible insurance discrimination and making difficult decisions about preventive measures that have long-term consequences. On the other hand, if one test negative for a BRCA mutation, one may experience survivor guilt or uncertainty towards the authenticity of the results.

To overcome these hesitations, we must consult healthcare professionals and seek their guidance before it is too late for us. Regular screenings and tests are one of the many ways we can take care of our future and our current wellbeing as well.

(The article is contributed by Dr Rajeev Agarwal Senior Director Breast Services, Medanta)

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BRCA Gene Testing: Who Is Vulnerable To Breast Cancer And What Is The Test That Helps You Understand? - TheHealthSite

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NEW YORK Investigators with the Children's Mercy Research Institute in Kansas City's Genomic Answers for Kids (GA4K) project have released genome sequence data for thousands of participants in an effort to better understand pediatric rare diseases. But this first batch of data only represents a fraction of what they expect to be able to share in coming years as the program continues.

"Genomic Answers for Kids is our approach to change the outcomes for rare disease families, primarily in the greater Kansas City area, where Children's Mercy's main catchment area is," explained Tomi Pastinen, director of the Children's Mercy Genomic Medicine Center and a researcher with the University of Missouri-Kansas City School of Medicine. While the program accepts patients from other institutions, as well, more than 90 percent of patients come from the area, he added.

"By building a large database from tens of thousands of individuals in our area, we will disseminate the data and enable rare disease discovery throughout the country and beyond, globally," he noted.

The GA4K project is being done through the Children's Mercy Research Institute, which openedthis year,following a large fundraising effort. The team has been doing related sequencing work for two years and has already enrolled thousands of pediatric patients and their family members. The sequencing analyses include one or both parents, when possible, although a subset of the rare disease patients are tested as singletons or analyzed with the help of sequences from unaffected siblings.

In addition to increasing research into pediatric rare diseases, the program is intended to boost the coverage of genomic medicine services and increase access to genomic testing when appropriate, Pastinen noted, particularly for families that are not being reached by existing genetics or genomics programs.

"We see disparities across our catchment region and, as usual with health disparities, these touch mostly minorities and inner-city populations, as well as some rural populations," he said.

Pastinen emphasized that the sequencing and analytical work is offered for free to families seeking rare disease diagnoses. Participating patients and their families donate their data, which is subsequently shared with other scientists in a de-identified manner to encourage rare disease research (the GA4K team has pledged that it will not sell participant data).

Although the diagnoses through GA4K have led to treatment or clinical management changes for a small subset of patients so far, Pastinen explained, genetic testing can frequently provide families with an explanation for a child's mysterious symptoms, bringing the often stressful, time-consuming, and frustrating processes of seeking a diagnosis to a close.

That was the case for Celia Steele, a girl from Wichita, Kansas, who began experiencing developmental delays, movement problems, epilepsy, and other symptoms at around the time that her twin brother began to crawl and walk. Her family had been looking for answers since she was a year or two old.

"It's been a long journey. We first got to Children's Mercy in the genetics department probably six years ago," recalled Celia's mother TeresaCruz-Steele. "We tried everything that we could locally here in Wichita to figure out what was happening. Nobody here in Wichita knew they sent us to all kinds of different doctors, thinking it was GI issues and all kinds of different things."

A local neurologist referred Celia to a genetics department, where tests repeatedly came back negative. "Nothing's ever really come back to say anything about why she has a movement disorder, why she's delayed," Cruz-Steele said. "She doesn't walk, she doesn't talk."

The family started to get some answers when a doctor at Children's Mercy told them that Celia had dystonia sometimes painful, involuntary muscle contractions. Around 2019, a neurologist told them about GA4K and they thought "why not"? Celia's parents both had blood drawn for DNA testing and participated in interviews. After that, though, they largely forgot about it, as Celia's immediate health concerns took precedent.

While staying close to home during the COVID-19 pandemic last fall, Cruz-Steele got a call that brought tears of relief: Exome and genome sequencing in parallel through the GA4K program showed that Celia carries an altered version of the PDE2A gene that has been linked to many of the same symptoms she experiences.

The long-awaited genetic diagnosis has not changed Celia's day-to-day care. But now, her mother explained, "we know the reason why she's delayed. We know why she has dystonia."

"It's just, honestly, a relief," Cruz-Steele said. "It's one of those things that was always there, and we never knew why. Now at least we have some idea what's going on."

The diagnosis also makes it possible to keep tabs on PDE2A-related research and treatment advances in the future, she noted, and to find out more about the symptoms or medical requirements that other children or adults with the condition experience at different points in their lives.

So far, the GA4K investigators have been able to make nearly 600 genetic diagnoses for Celia and other children, starting with exome sequencing and expanding their analyses to whole-genome sequencing and long-read whole-genome sequencing for patients who do not get diagnostic answers from protein-coding sequences alone.

The team added more than 2,300 of those genome sequences to the National Institutes of Health dbGAP database last month, and submits data to public databases such as ClinVar.

Along with collaborations with other groups working on rare undiagnosed diseases, the GA4K group has also set up a larger repository for registered researchers and clinicians that is updated each week with de-identified genetic data, prioritized variant information, and electronic medical record-based patient phenotypes.

"I think that's a key thing for the future: to have a dynamic analysis of genetic variation, but also the evolution of a patient's clinical picture in parallel," Pastinen said. "That's going to augment discoveries. Without this data sharing, [some] families will remain in limbo, because [many] families that are undiagnosed do have significant findings in their genome. We just can't call them diagnostic as of today."

The team also described a subset of the cases assessed by both exome sequencing and Pacific Biosciences long-read genome sequencing in a preprint posted to MedRxiv in mid-October. That study focused on 1,083 patients from 960 participating families and provided an opportunity to look at the additional data offered by long-read sequencing.

In that group, almost 35 percent of patients with no previous genetic testing received a diagnosis following the team's sequencing-based testing and machine learning-based genetic variant prioritization efforts, as did 11 percent of the rare disease patients with genetic tests that came up negative in the past.

Even more patients more than half of those who did not get a definitive diagnosis carried variants of uncertain significance, the researchers reported. Within that set, they went on to find more than 150 promising candidate genes with the help of the GeneMatcher service from the Baylor-Hopkins Center for Mendelian Genomics.

"[T]he majority of unsolved cases in our cohort do have candidate genes and variants but lack sufficient evidence to assign pathogenicity due to a lack of replication (also known as the 'n of 1' problem), with hundreds of genes and variants currently followed through GeneMatcher," the preprint authors wrote.

For the broader GA4K effort, the investigators are applying still other analyses to better understand the yet-to-be-diagnosed cases. For example, they hope to develop induced pluripotent stem cell lines that can be used to derive disease-relevant tissue models for functional, transcriptomic, and epigenomic analyses.

"Our current approach, which we've been working on with investigators at the genome center here, is to systematically derive pluripotent stem cells from the patients. Then the stem cell transcriptome and epigenome already increases the ability to look at many disease genes as compared to blood," Pastinen explained. "And then, of course, the stem cells down the road will give us abilities to look at other [derived] tissue types."

The availability of RNA sequences and epigenetic profiles could also prove useful for interpreting structural variants detected with long-read sequences, he noted. Due to capacity limitations, long-read genome sequencing is currently being applied to cases that both remain negative after exome sequencing and have DNA from both parents available for analyses, though that may change in the longer term, depending on the diagnostic yield associated with the approach.

Among the 906 families included in the MedRxiv preprint, for example, the investigators detected more than four times as many of those rare structural changes with long-read genomes compared to genome sequences generated with short reads alone.

"We believe that there's a proportion of variation that is due to genetic changes that are difficult to observe by current ways of clinical genome sequencing, particularly structural variants," Pastinen explained. "And we have some evidence of that through the early stages of our program: 5 to 15 percent of missed diagnoses that are diagnosable with current criteria are due to these structural variants that are kind of in a blind spot of short-read sequencing, as well as clinical microarray technology."

Nearly 6,300 individuals from more than 2,700 families have enrolled in the GA4K program so far, and the pediatric genomes that were recently released to public databases represent roughly half of the individuals who have been sequenced, Pastinen said. He noted that the registered access database contains more than 5,000 sequences, which could be released to dbGAP by as early as the end of this year.

The investigators expect to sequence some 30,000 children with rare diseases over the full seven years of the GA4K project. They have already secured around $18 million from philanthropic sources in the Kansas City area, Pastinen said, and established relationships with some commercial firms.

An additional funding drive is underway, and the team is considering other options from federal support or commercial collaborations that do not compromise the data sharing spirit of the project to new avenues for reimbursement, he added, all while streamlining testing and trying to bring the cost down.

"Over time, we hope we'll be able to solve over 50 percent of the cases of suspected rare genetic disease. And through the tools that we develop, and data sharing, [we hope] that we are able to accelerate the current diagnostic odyssey which is, in our jurisdiction, about four years per patient for a positive diagnosis," Pastinen said. "We haven't yet engaged with the payors on the new models of delivering genomic medicine, but obviously, as we go along, we need to get this engulfed in the traditional reimbursement for genomic medicine."

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The Mayo Clinic is developing a breakthrough blood test that can detect more than 50 different types of cancer across all stages.

The test, known as Galleri, was created in partnership with Menlo Park, California-based biotechnology and pharmaceutical company Grail.

Galleri looks for signals present in the bloodstream that may be associated with cancer at the time of a blood draw.

The test uses next-generation sequencing and machine-learning algorithms to analyze methylation patterns of cell-free DNA (cfDNA) in the bloodstream, which can carry cancer-specific information. DNA methylation is a process used by cells to regulate gene expression. If a cancer signal is detected, Galleri will pinpoint where in the body the cancer is coming from to help health care providers determine the appropriate next steps for patient treatment.

Currently, recommended cancer screenings in the U.S. only cover five different types of cancer and can only screen for one type at a time. According to Grail, 71% of cancer deaths are caused by cancers that are not commonly screened for.

FILE - Galleri blood test for cancer detection. (Grail)

RELATED: NIH: Routine genetic testing of some newborns siblings for cancers could cut deaths

Galleri, which is not covered by insurance, costs $949 and must be ordered by a licensed health care provider, such as a physician, nurse practitioner or physician assistants. Grail says that Galleri currently has 89% accuracy in predicting cancer signal origins and estimates that approximately 1 out of every 200 people tested by Galleri receive a false-positive result.

Results typically come about two weeks after the blood draw. Galleri is recommended for use in adults with an elevated risk for cancer, such as those aged 50 or older, and should be used in addition to other routine cancer screening tests, such as a colonoscopy or mammograms.

Grail is currently working to obtain full approval for Galleri from the Food and Drug Administration. A Mayo Clinic spokesperson declined to offer a timeline on when the test will be widely available to consumers.

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Mayo Clinic developing blood test that can spot more than 50 types of cancer - FOX 13 Tampa Bay

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A study conducted by UAB researchers found that using genetic information for choosing medical treatment after getting a heart stent reduces the risk of potentially fatal cardiovascular events.

Vibhu Parcha, M.D., and Pankaj Arora, M.D.A recent study published inCirculation: Genomic and Precision Medicinefound that using genetic information to prescribe medications following a stents being placed after a heart attack reduces the risk of fatal outcomes in the future. The findings from theUniversity of Alabama at Birminghamsupport the growing trend of using a patients genetic information to guide common prescription medications for safe and effective treatment.

Patients with coronary artery disease who receive a stent to open blocked arteries in the heart often receive medications to prevent the occurrence of a deadly cardiovascular event such as heart attack, stroke or death. However, Vibhu Parcha, M.D., a clinical research fellow in theUAB Heersink School of MedicineDivision of Cardiovascular Disease, says that, depending on an individuals genetics, these medications could become less effective.

Some of us carry a natural variation in our DNA that impairs our ability to metabolize clot-preventing medication, said Parcha, first author of the study. This can sometimes cause these lifesaving medicines to become less effective. Therefore, an approach of using genetic information to prescribe proper medications after placing a stent has been proposed and recently assessed in an international, multicenter randomized clinical trial.

For this study, the researchers used the data from theTAILOR-PCI trial, which was supported by theNational Heart, Lung, and Blood Institute. The trial was conducted in over 5,300 patients to determine whether using the genetic information when prescribing clot-preventing medications reduces the risk of developing any major cardiovascular event compared with the routine approach. The researchers combined the evidence from this study with information from previously conducted investigations.

Based on the evidence from all randomized clinical trials to date combined with the latest evidence from TAILOR-PCI trial, we found that using the genetic information to guide clot-preventing antiplatelet medications further reduces the risk of developing potentially fatal future cardiovascular events, Parcha said.

Through their research, authors of this study found that patients who were treated with a genotype-based approach had a 99 percent lower chance of having a future stroke, heart attack, a blockage of stents and bleeding episodes compared to those who were treated with a routine clinical approach.

Clopidogrel is a generic affordable medication that is widely prescribed, especially in the southeast United States, among patients getting a heart stent, said senior author Pankaj Arora, M.D., a physician-scientist in UABsDivision of Cardiovascular Disease. We can now modify our treatment approach right after getting a heart stent or even later based on the genetic information to ensure that the risk of someones developing a potentially fatal cardiac event is very small.

Arora adds that the current study provides evidence supporting the use of easy and quick genetic testing when someone is getting a stent. This course of treatment will ensure that patients get a precise and tailored medication regimen to prevent any future cardiac events.

Currently, we are seeing a surge of genomics integrated into routine clinical therapy, Arora said. This is a prime example of using precision medicine principles for a tailored evidence-based medication regimen for every patient.

UAB has been leading the effort of a genomics-ready clinical network through its recently launchedUAB Cardiogenomics Clinic. This clinic offers a one-stop shop to help the patients interpret their genetic results, provide genomic counseling, provide a comprehensive cardiovascular assessment, and provide the latest efficacious cardiovascular diagnostics and therapeutics for common cardiovascular conditions such as hypertension, heart attacks, heart failure, stroke, valvular heart disease and diseases of blood vessels. The clinic provides a broad spectrum of cardiology health care services for people of all ages and those with all types of heart diseases in the southeastern United States.

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UAB researchers determine that using genes to guide medication regimens after getting a heart stent improves outcomes - News - The Mix

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Leading Nonprofit's Campaign Encourages Public to Talk, Test, and Take Control During November's Pancreatic Cancer Awareness Month

LOS ANGELES, Nov. 1, 2021 /PRNewswire/ -- The Pancreatic Cancer Action Network (PanCAN) launched its annual Pancreatic Cancer Awareness Month campaign today to raise awareness of the world's toughest cancer. This November, PanCAN is emphasizing the importance of starting a conversation about testing for pancreatic cancer patients and their first-degree relatives. Joining PanCAN to highlight this campaign is "Yellowstone" actress Jen Landon, who lost her father actor Michael Landon to pancreatic cancer in 1991 when she was only 7 years old. Landon is speaking out in a public service announcement (PSA) and digital campaign for PanCAN to encourage families to "Talk, Test, and Take Control," highlighting three simple steps that could save lives.

"My father passed away from pancreatic cancer only three months after he was diagnosed two months longer than doctors gave him to live," said Landon, while on set with PanCAN. "When I started having my own health issues and knowing my own family history with the disease, I decided it was important to me to take control of my health and get tested to understand my own personal risk."

Previously, it was thought that a person's risk for pancreatic cancer was increased only if two or more family members were affected and, at that point, genetic testing would be recommended. However, the most recent guidelines released by the National Comprehensive Cancer Network (NCCN) indicate knowing your genetic risk may be important after only one first-degree relative a parent, child, or sibling is diagnosed with the disease. Specifically, if the diagnosed family member was found to have a genetic mutation or if they were unable to be tested, it is recommended for first-degree relatives to speak to a genetic counselor about next steps which may include genetic testing. Inherited risk also increases if more family members are affected, or if there is a history of familial breast, ovarian or colon cancer, familial melanoma, or hereditary pancreatitis. PanCAN offers a Family History Worksheet that can be downloaded and completed to start the conversation with your healthcare provider.

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"Knowledge is power. For those who may have a brother, sister, mother, father, or child who has had pancreatic cancer, we recommend that you talk to your doctor to help you understand whether you should have genetic testing, and PanCAN Patient Services can help you prepare for that conversation," said Julie Fleshman, JD, MBA, president and CEO of PanCAN. "PanCAN Patient Services has free resources and information to help you understand why testing is important for early detection of pancreatic cancer, as well as to determine the best treatment options if you've already been diagnosed."

Genetic testing can be requested by a doctor, genetic counselor or other healthcare provider and is most often performed through a blood or saliva analysis. If you learn you have an elevated risk for pancreatic cancer, you may qualify for a surveillance or screening program for regular monitoring, which can also help advance research into early detection for the disease.

The five-year survival rate for pancreatic cancer is just 10%. In 2021 more than 60,000 Americans will be diagnosed with pancreatic cancer and approximately 48,000 will die from the disease, making it the third leading cause of cancer death in the United States. Because the symptoms can be vague, pancreatic cancer is most often diagnosed at a late stage after the disease has spread, when surgery is no longer an option and treatment is limited to chemotherapy. An early detection strategy for pancreatic cancer is critical to changing patient outcomes and increasing survival.

For people already diagnosed with pancreatic cancer, PanCAN strongly recommends genetic testing for inherited mutations as soon as possible after diagnosis which can also help inform family members of their own risk. Additionally, PanCAN recommends all pancreatic cancer patients receive biomarker testing of their tumor tissue through a precision medicine service like PanCAN's Know Your Tumor to understand if their biology may help inform treatment decisions.

A study published in Lancet Oncology by PanCAN and Perthera, Inc. in 2020, which analyzed more than 1,000 pancreatic cancer patients enrolled in PanCAN's Know Your Tumor service, found that patients who receive matched therapies following biomarker testing of their tumor saw an overall survival benefit of one year longer than those who did not.

PanCAN Patient Services offers free, personalized, one-to-one support for patients and families who are interested in learning more about biomarker or genetic testing.

To learn more about PanCAN Patient Services, genetic and biomarker testing, or to see how you can support the nonprofit's efforts and take action all month, including on World Pancreatic Cancer Day (Nov. 18), visit pancan.org and follow PanCAN on Twitter, Instagram and Facebook.

About the Pancreatic Cancer Action NetworkThe Pancreatic Cancer Action Network (PanCAN) leads the way in accelerating critical progress for pancreatic cancer patients. PanCAN takes bold action by funding life-saving research, providing personalized patient services and creating a community of supporters and volunteers who will stop at nothing to create a world in which all pancreatic cancer patients will thrive.

Media Contacts:Jillian ScholtenSenior Public Relations ManagerPancreatic Cancer Action NetworkDirect: 310-706-3360E-mail: jscholten@pancan.org

November is Pancreatic Cancer Awareness Month

The Pancreatic Cancer Action Network (PanCAN) is dedicated to fighting the worlds toughest cancer. In our urgent mission to save lives, we attack pancreatic cancer on all fronts: research, clinical initiatives, patient services and advocacy. Our effort is amplified by a nationwide network of grassroots support. We are determined to improve outcomes for todays patients and those diagnosed in the future. (PRNewsfoto/Pancreatic Cancer Action Network)

Cision

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SOURCE Pancreatic Cancer Action Network

Original post:
Actress Jen Landon Joins Pancreatic Cancer Action Network To Bring Awareness To The Importance Of Genetic Testing For Inherited Cancer Risk - Yahoo...

Recommendation and review posted by Bethany Smith

My eyes flutter open. Im surrounded by four nurses holding me upside down. They shake me back and forth, urging the blood back to my head. As I regain consciousness I wonder: is this worth it? That it is the $10,000 question.

Seven months ago, I received my acceptance to Columbia Universitys School of Journalism. I was absolutely stunned to be admitted, but even more shocked by the $116,000 price tag and that was just for tuition. The school, whose education is widely considered the golden standard in journalism, would provide me with unparalleled access, in an industry I currently felt immobile in.

Fortunately, the vast majority of the cost would be covered by scholarships. For the remaining rent and living costs, I looked for something else to plug the gap. I landed on a burgeoning industry offering struggling people vast amounts of cash, relatively fast: egg donation.

Its 90-something degrees on a June morning in New York City. My wrinkled, green satin skirt sticks to my legs as I rush into the egg donation clinics main office for another screening, a urine test.

Over the last four months Ive been lying to my somewhat conservative family about where Ive been escaping to on these early mornings: surreptitiously showing up for examinations and psychological assessments in order to donate my eggs.

Outside of my family, Ill more often say Im selling my eggs. Donation is a term that is supposed to reflect that its a womans time, not the value of her eggs, thats being paid for. But here was an industry offering me more per hour than Id ever earned at a regular job. To say Im selling feels more honest.

In the clinics main office, Amy Winehouses deep voice plays softly on a nearby speaker. Looking around the waiting room, with its lavender and gray accents splashing the walls, I quickly realize Im the only woman sitting alone. I share fleeting glances with giggling couples and wonder if any of them are sizing me up as a possible donor.

Sometime after my arrival, a nurse calls my name. Amy Winehouses harmonies fade away. She takes me to a chair in a hallway: a dozen or so vials clinking around on an attached tray. The space feels cold and sterile. The silence is oppressive. I try to remember if I ate breakfast I didnt.

A nurse scoots over and pulls my arm over the cuff of the chair.

Beautiful veins, she says.

After she has filled eight or so vials with my blood, I slump over and pass out. When I awake, the nurses have swept me into the air. Semi-conscious, and embarrassed I stumble over an apology.

Im escorted to a gynecological chair in a nearby examination room and given a pineapple flavored lollipop. I lean my head back against the cold chair. Another nurse walks in, showing off more vials in her hand. I roll up my sleeve and hold out my other arm. Time for round two.

I first called the egg donation clinic back in March 2021 moments before I attended Columbia Journalism Schools introduction day. The first time I heard of donation was through a friend during my undergraduate studies. I knew I couldnt risk the distraction and stress of a job while studying at Columbia full-time. Plus, the schools administration reminded us outright that we were to avoid employment during our studies.

The Google search that led me to my new career choice was simple: Egg donation agencies in New York City. Im not the only one to type it. Every year, donors are being paid in the thousands to provide eggs to prospective parents. The CDC found that in under a decade, IVF cycles using donor eggs nearly tripled, from roughly 5,000 in 2007 to more than 13,000 in 2016.

The woman on the phone was cheery but meticulous when she described the process. In contrast, my first visit to the clinics SoHo office was impersonal. During my ultrasound, awe-struck as I gazed into the contents of my ovaries and uterus, my doctor spoke about me to the nurse, but not to me.

In a traditional doctor-patient relationship, the doctors bedside manner is fundamental. In the US where healthcare is privatized and people weigh up doctors as if their health were a business transaction medical offices treat you well because they want you to come back. My first day in SoHo made me realize that this time, I wasnt the patient. I was the product.

The bloodwork from that first appointment was sent off to a genetic testing facility, Sema4, which tested 283 of my genes against hundreds of disorders. Those ranged from cystic fibrosis and Fragile X syndrome which has been connected to autism to maple syrup urine disease, a disorder where the body cannot process certain amino acids.

I tested positive as a carrier for three genetic conditions: dystrophic epidermolysis bullosa a condition that creates skin so fragile that it blisters and breaks easily, leaving severe scarring; metachromatic leukodystrophy a rare genetic disorder; and non-syndromic hearing loss. I felt a mixture of shock and morbid curiosity hearing the results, though the clinic reassured me it was normal to test positive for a small handful of genetic disorders.

Epidermolysis bullosa has no cure, and people born with the condition are at increased risk for an extremely aggressive form of skin cancer. The Sema4 representative playfully told me not to fall in love with Finnish people, who are more likely to have the same skin condition.

The call offered a window into a different world: where everybody is a carrier of disease, myself included. I was forced to confront a reality where I might pass on complex disorders to my children, ones I never thought I had.

The clinic was not just assessing my predisposition for genetic disorders, it was also weighing up other attributes: my blonde hair, my blue eyes and my fair skin. Over screening calls, team members would subtly compliment and affirm descriptions of my body, personality and ivy league education. Altogether, I had concerns this was sanitized eugenics. But through what other language did I expect them to build a relationship with me? They were paying me $10,000 for my eggs. The very nature of our business revolved around my body.

In May, early on in the process, the clinic set me up to speak with their psychologist. Lounging in the hammock on my balcony, I was exposed to the philosophy of the clinic. My eggs werent mine and my eggs were certainly not synonymous with my child. Rather, they saw my eggs as a part of a larger gene pool, one that spanned generations and geographic locations.

I was concerned the psychologist was assessing my mental health, looking to disqualify me from the process, but as our conversation flowed I realized she was actually trying to ascertain whether I was intelligent enough to make the decision to give away my eggs. She gave me an IQ test. It was New York state regulation.

The idea that my eggs werent mine but rather some genetic tie to the past struck me as odd and uncomfortable at first, but over time I grew to prefer that framing to my own. I wasnt giving up my child - I was giving up another period. This would help struggling parents conceive children of their own. There was something wholesome about that.

The idea that a small child, that looked like me would roam the world while I experienced my early twenties never phased me. The thought actually warmed my heart.

I grew to realize I wanted children of my own one day, and part of me yearned for the experience I was offering to someone else. I imagined the mom who would take my eggs.

Was she funny? What kind of school lunches would she pack? Was she compassionate and patient? Would she hold the childs hand often? Did her moral values reflect my own? I would never know. My donation was anonymous end-to-end.

By summertime, the clinic had taken me off of my birth control and put me on their own. One morning when I went to their office to collect an envelope of the beige pills, the nurse handing them to me apologized, saying she didnt understand why it was taking so long to match me with a family.

Youre a hot commodity, she said.

We paused for a moment, staring at one another. My hair had fallen in front of my eyes. I pushed the dirty blonde strands back behind my ear before erupting in uncomfortable laughter. We both knew what she meant.

A few days away from my egg retrieval date I was sitting on the edge of my bed feeling truly unsettled. It was late, and in the quiet I felt the calm ripped away from me as I laid out one of the last packs of medication, a 250 microgram syringe of Ganirelix, on my table stand.

It took some mental gymnastics to learn to inject myself with hormones twice daily. Each medication had a different ritual. In the morning, a yellow and blue plastic pen would deliver 225 ml of Follistim, clicking as I pushed the pen down to dispense the refrigerated serum. In the evenings, I would mix a vial of Menopur. Combined, these two drugs worked to stimulate the follicles in my ovaries, aiming to release anywhere between 10-20 eggs normally, just one egg is released during ovulation.

Days before retrieval, Ganirelix would prevent me from ovulating, giving the eggs a chance to mature before they descended into my uterus to be removed.

This final stage numbed me. The rigamarole of daily injections and 7 am ultrasounds had worn me down, and I was tired. On the horizon, I still had one more hurdle: retrieval. I ran my hand over my stomach, feeling the tender needle sites and the bloat underneath, not wanting to undergo the surgery but also knowing it was too late to turn back. I grabbed my first syringe of Ganirelix and took a deep breath.

I surveyed a dozen women of varying ages and backgrounds on their personal experiences donating. Unlike infertility forums for people going through IVF or surrogacy, there was no clear online location where donors could support each other through the process of egg donation. Instead, I found them scattered across private Facebook groups, WhatsApp chats and Reddit.

Most donated during their early twenties and all participated for the financial compensation, at least originally. There was a pay scale, largely determined by geographic location and time of donation, ranging from $3,000 to $20,000. Women used the money to pay for bills, student loans or vacations.

Some donors matched with intended parents or agencies through advertisements placed on Facebook or Instagram. Others found their matches on Craigslist, responding to blanket ads not dissimilarly phrased to those looking to sell a bicycle, apartment or car.

JEWISH WOMEN --- Earn $10,000 with the Gift of Egg Donation

Chinese, Vietnam, Korean, Asian Egg Donors Earn $10,000

Seeking a Highly Intelligent Egg Donor! Compensation up to $40K

Since these listings are sometimes posted directly by the intended parents, they may have shorter or less thorough initial application processes, and they can offer significantly higher monetary sums than agencies or clinics traditionally would. But applying to unverified listings poses obvious risks. In 2011, an Idaho woman was charged with fraud for stealing eggs from donors through Craigslist, never paying the agreed upon sums after receiving the eggs.

Attempting, in part, to make the process safer, organizations began pairing donors and intended parents through their own vetted databases. Prospective parents, can now scroll through the profiles of thousands of potential donors, not unlike on a dating website. Circle Surrogacy offers non-anonymous pairings, where the donor has an opportunity to meet and interact with the families.

Jordan Whaley Finnertys profile features an image of her then five-year-old daughter all smiles beside her mom. Whaley set it up when she was 27.

That was in 2018, after a wine night with a friend who had just undergone a donation herself Finnerty was intrigued, especially by the $9,000 lump sum. She wasnt desperate for the money, but she knew it would help her stop living paycheck to paycheck. She applied that night and forgot about it.

Four months later I was donating, Finnerty said.

Since then, Finnerty has donated four times.

It wasnt until I was matched with a family, met them, [and] spoke with them that I realized the impact, said Finnerty. You dont realize the lengths couples have to go through to have children. Shes had contact with all of the families shes donated to. Being exposed to the parents gratitude changed her mind. Now, the goodwill of element, not the money, is her favorite part: She plans to donate six times the maximum advisable.

Still, she acknowledges certain issues in the industry.

Speaking with intended parents, they express how weird it is to be going over girls profiles and looking into their health history, basing their preferences off of hair color or eye color, Finnerty told me over Facebook one evening.

But she also knows that people make these choices with their partners all the time.

To prevent people from donating repeatedly (with the risks being unknown), or incentivizing people to withhold information to make themselves more attractive to donors, ethical guidelines suggest offering less money.

In a recent opinion published by American Society for Reproductive Medicine which dissuades agencies from compensating donors more than $10,000 the society found that 88% of donors compensated up to $5,000 for their eggs answered in a self-report questionnaire that being able to help someone was their biggest motivation.

I think [people assume] theres a sense of coercion out there, but theres really none of that, said Deborah Mecerod who runs MyEggBank, the largest egg donation bank network in the US. Their policy is to offer one flat-fee as payment, capped at $10,000. Mecerod feels the experience is very rewarding for prospective donors, through the education and free genetic testing, even if they choose not to follow through with the donation. Theres always the option to leave the process, she said.

While many women admit to being pulled in by the amount they can earn from their eggs, most I spoke to still saw it as a choice.

The first and second time I was unemployed or barely employed, so in a way [I needed the money] but I wasnt desperate for it, explains Dolan Wells Gallagher, who has now donated her eggs three times. The first and second time she used the money to cover rent while she was between jobs, the third time, to pay tuition fees.

Data and long-term research on egg donation is scarce. In 2016, new research suggested that fertility drugs may be linked to the development of uterine cancers. A 2017 report by The Donor Sibling Registry found suspicious occurrences of breast cancer in otherwise healthy young donors who showed no genetic predisposition to the disease, citing hormone therapy during donation as a possible cause. The lack of information may be misleadingly interpreted as lack of risk, the report warned.

Four years later, theres still no semblance of a long-term database to monitor the health of donors. Furthermore, while health data is monitored for those who donate organs, the same information is not required for egg donation: it is up to donation agencies to request past medical information on donors, and even then they are at the mercy of donors voluntarily doing so and telling the truth when they do. Most are not asked for, and do not report, medical changes after starting the process.

In the meantime, thousands of young donors every year undergo egg removal and hormone treatment, without anyone fully understanding the consequences.

Having a donor registry would be such a great tool for so many different reasons, because you could collect data from the donor, how shes doing and follow up in years to come, explains Mecerod, who believes legislation and federal government intervention would help solve this problem.

But most women I interviewed didnt seem too bogged down by the ramifications of long-term health complications. Most of them needed the money. When the cycle ends, the donors leave with the future impacts a mystery.

Up until the very end of my first donation, I felt positive about my experience. Despite fainting; feeling objectified and shuffled around; despite the laborious injections, I still liked it. I felt comfort and satisfaction knowing I helped people achieve their dreams.

But in the final days ticking down to my surgery, I felt a slew of emotions that confused what I thought would be a rewarding end.

I felt at the mercy of the clinic. Appointments were made at locations Id asked not to be sent to, because they were out of my way. Some days I didnt receive updates about how much medication I should take, leaving me to take a stab in the dark at the dosage. I didnt find out when my surgery would be until two days before the event.

On the day before my surgery, I asked a nurse point-blank why they scheduled surgeries with such little advance. She didnt know. I felt disrespected and angry. The company was inconsiderate of my time, and I was suddenly left scrambling around to make sure someone could still pick me up from my surgery the following day.

I was expected to have absolute flexibility. Appointments popped up and I was expected to be available. As the week wore on, my enlarged ovaries sat heavy in my abdomen as a thick and uncomfortable reminder.

After my final appointment on Tuesday, I wrote in my journal: At this stage I genuinely do feel left in the dark and I dont really want to deal with these people anymore. I wonder if the woman receiving my eggs is more informed than I am.

Still, I looked forward to receiving the $10,000 check. Life in New York, one of the worlds most expensive cities, took unexpected tolls on my wallet on a daily basis. The arrival of this check would quell my anxiety for a handful of months, allowing me to return to my studies stress-free studies which would offer me stability and confidence towards my dream job. Every piece was a steppingstone towards a future I desperately wanted.

My surgery lasted a total of seven minutes and laid me up in bed for a day and a half at home, as my stomach cramped and contorted. The clinic offered me no pain relievers, so I lived on a cocktail of Tylenol and Advil. Fortunately, my pain wasnt too bad. Reflecting on the procedure as a whole, I jotted down a couple lines in my journal: I would consider doing this again. I do worry about how it would impact my body, but the impact on my life would be so significant. I dont know if I could deny that.

Here is the original post:
I sold my eggs for an Ivy League education but was it worth it? - The Guardian

Recommendation and review posted by Bethany Smith

Kristie L. Kahl: Can you explain what the genetic risk is when it comes to VHL?

Stacy Lloyd: There is a 50/50 chance of the VHL being passed down from parent to child. Only about 20% of VHL cases are actually that de novo kind of first-in-family.

Kristie L. Kahl: Why is it important to talk about hereditary conditions, especially when it comes to a cancer diagnosis?

Stacy Lloyd: So, VHL isn't something that goes away. It's truly better and maybe this is personal feeling but I do feel very strongly that it is truly better to know what you're dealing with and be empowered as a patient to take care of yourself so that it doesn't get to a point where you are in an emergency situation. For example, not getting those regular eyes exams could result in partial or full loss of vision. So, family members that are at risk to also have this disease should know and be able to seek confirmation through that genetic testing so that they can take care of themselves and detect any tumors early on.

Kristie L. Kahl: If someone has a family history of cancer, why is it important for them to make sure they're also getting genetic counseling?

Stacy Lloyd: I feel like it's a little bit of a personal decision, and some people are open to it and welcome it, other people don't find as much value. But I think it can be a really powerful tool for patients to educate themselves on the disease and the genetics behind it, what their risk is. And this is important for VHL, but its also important for other cancer syndromes, too. (They can learn) what they can expect throughout their life dealing with this (condition) and it just is a way to really empower you, as a patient, empower your family, be able to have informed conversations about the disease and the management of the disease that will ultimately be with you for a lifetime as it stands today.

Kristie L. Kahl: How can one family members genetic testing results impact an earlier diagnosis for another family member?

Stacy Lloyd: Once VHL is detected in the family, it does prompt others to get tested. And once confirmed, that surveillance can start. Before you have that diagnosis, you might not be able to get all of the actual surveillance that's needed to cover all of the manifestations, whether that be an insurance issue, whether that be a physician that feels more comfortable doing all of those different tests once you have a confirmed diagnosis. So some of that really needs to happen before you can even get the surveillance that might be needed to track some of this.

An early diagnosis can result in that higher quality of life, being able to know and watch some of the tumors that might be small as they grow, instead of running into what could be an emergency situation. Additionally, any children can be tested at an early age. And that really is super important. I feel very strongly about regular surveillance for children. I was 10 when my first manifestation happened. So, it doesn't always wait until a certain age or it's not something you might just have to deal with when you're older. So, it's really important to start that early. And kids also don't know what's going on with their bodies. So, they may not even realize that something's wrong. So that's something I think that is so important about the genetic testing and getting that early and often, and having those conversations as part of a family so that you can get that diagnosis early. If it's there, start watching out for things as early as possible.

And something else, I think that that sets a tone for the rest of that child's life. Like, I take care of myself. I've been doing this for so many years. It's a part of my routine, right? And I think setting those early habits of taking care of yourself and getting that surveillance and routine testing early on is really important for people over the course of their lifetime to continue to make sure that they're watching out for these (manifestations).

Kristie L. Kahl: Based off of your experience, do you have any advice for others to start that family discussion?

Stacy Lloyd: Its not an easy one. At some point, you're not always going to get the response that you want. But I think as much as you can set an example and be that person that is doing the right thing for your health and being supportive. You can only do so much. But I think it's just worth having some transparent, honest communication because it's in the best interest of your family to have those conversations. Just being empathetic and caring about the conversation and being respectful of people's choices, is really all you can do.

Read the rest here:
Discussing Hereditary Cancer, VHL Disease With One's Family - Curetoday.com

Recommendation and review posted by Bethany Smith

IRVINE, Calif.and TEMPLE CITY, Calif., Nov. 1, 2021 /PRNewswire/ --Helio Health("Helio"), an AI-driven healthcare company developing blood-based early cancer detection tests, and Fulgent Genetics, Inc. (NASDAQ: FLGT) ("Fulgent"), a technology-based genetic testing company focused on transforming patient care in oncology, infectious and rare diseases, and reproductive health, today announced its upcoming late-breaking poster presentation on the performanceof HelioLiver, a multi-analyte blood test that utilizes both cell-free DNA (cfDNA) methylation patterns and protein tumor markers for the detection of hepatocellular carcinoma (HCC), at The Liver Meeting 2021. The annual meeting is hosted by the American Association for the Study of Liver Diseases (AASLD) and will be held virtually November 12-15, 2021.

Details of the poster presentation are as follows:

Poster Title:A Multi-Analyte Blood Test for Accurate and Early Detection of Hepatocellular Carcinoma Publication Number:LP44Session Title: Late-breaking Abstract Posters Presenter: David J. Taggart, PhD, NRCC(CC) Laboratory Director and Vice President of Laboratory Operations and Regulatory Affairs, Helio Health Inc.

The full abstract can be found here. The poster presentation will be available for viewing by the attendees of The Liver Meeting throughout the entire meeting.

About Helio Health

Helio Health is an AI-driven healthcare company focused on commercializing early cancer detection tests from a simple blood draw. The company's mission is to simplify cancer screening so lives can be saved by detecting cancer earlier. With Helio's AI-driven technology, both physicians and their patients gain powerful insights from accurate, accessible, and convenient blood tests.

Building on a robust research and development program, and with access to thousands of patient samples, the company is currently in clinical trials in the US and China with its lead liver cancer detection test. Helio's development program is focused on liver, colon, breast and lung cancer.

Helio Health is headquartered in Irvine, CA, with R&D, GMP and CLIA facilities in Irvine, CA and West Lafayette, IN, Guangzhou and Beijing.

About Fulgent Genetics

Fulgent Genetics is a technology-based genetic testing company focused on transforming patient care in oncology, infectious and rare diseases, and reproductive health. Fulgent's proprietary technology platform has created a broad, flexible test menu and the ability to continually expand and improve its proprietary genetic reference library while maintaining accessible pricing, high accuracy, and competitive turnaround times. Combining next generation sequencing with its technology platform, Fulgent performs full-gene sequencing with deletion/duplication analysis in an array of panels that can be tailored to meet specific customer needs. A cornerstone of our business is our ability to provide expansive options and flexibility for all clients' unique testing needs through a comprehensive technology offering including cloud computing, pipeline services, record management, web portal services, clinical workflow, sequencing as a service and automated lab services.

About Helio Health and Fulgent Genetics Partnership

In a strategic partnership announced in August of 2021, Helio Health and Fulgent Genetics plan to commercialize and co-brand HelioLiver, a cell-free DNA (cfDNA) methylation blood test that incorporates protein markers and demographics for the detection of hepatocellular carcinoma (HCC) or liver cancer. HelioLiver is currently undergoing clinical trials in the U.S. and China. Fulgent will be responsible for laboratory operations, supply chain operations, and marketing and sales leveraging its operational excellence and significant market reach, initially focused in the U.S. and Canada. Helio will provide intellectual property and continued support across research and development, publication development, market access and sales, as well as reimbursement operations. Fulgent and Helio will also collaborate on the development of additional liquid biopsy tests for different types of cancer in the future.

SOURCE Helio Health and Fulgent Genetics, Inc.

See the article here:
Helio Health and Fulgent Genetics to Present New Data on HelioLiver in Late-Breaking Presentation at The Liver Meeting 2021 - PRNewswire

Recommendation and review posted by Bethany Smith

There's a video of their daughter Laurence that David Benayand Mlissa Madorewill never, ever delete.

The video was taken when Laurence Lolo to her parents and big sisterlose was about 10 months old. In it, the chubby-cheeked baby sits in a highchair and, with a little prompting,says the words "mama" and "papa."

"That was the last time," Benay said. "That video was the last time she said those words."

The couple had noticed other oddities in their younger daughter's development she'd missed important milestones such as rolling over, standing and pointing, and she was having difficulty holding her head up when she crawled.

"She wasn't even able to sit without putting her hand down, which was kind of strange to us," Madore recalled.

Not long after the video was taken, Laurence went forher 12-month checkupand her parents flagged their concerns to thedoctor.

They were referred to a pediatricianwho eventually ordered two rounds of genetic testing to nail down a diagnosis. That would take many more months.

"It was actually a very stressful period for us," saidMadore, who spent hours researching all the possibilities, including autism. "I wasn't sure what it was, but I just knew something wasn't right."

On Sept. 1, 2021, a couple weeksafter her second birthday, Laurence was officially diagnosed with Rett syndrome, araregenetic neurological and developmental disorder that affects about one in every 10,000 children, nearly always girls.

Madore had researched that possibility, too.

"When I looked over to Mel, instantly she was already crying because she knew what that was and what it meant," Benay said.

All childhood diseases are cruel, but Rett syndrome is especially insidious because it robs its young victims of the speechand motor skills they've just developed. One day they can walk, talk and flip pages in a book, then suddenly they can't.

"I knew that Laurence's future was not going to be an easy one," Madore said through tears. "I knew that we would see more regression, and I think that's what I was the most scared of. We had already lived [through] some regression, and that is so hard as a parent, to see your child lose skills."

According to Dr. Melissa Carter, medical director of the Rett syndrome clinic at CHEO, eastern Ontario's children's hospital in Ottawa, most children with the disorder will regressbetween the ages of about 18 months and three years, then plateau until late adolescence or early adulthood.

Even after the regressive stage, many children with Rett syndrome willsuffer seizures,have difficulty breathing and develop scoliosis. Many will eventually need a wheelchair, and while there's little scientificagreement on life expectancy, parents often outlive their children.

"It's really devastating," Carter said of the challenges that come later."You think you've gotten over the initial hurdles and then this happens, so it's really hard to deal with."

Carter said the Rett syndrome clinic at CHEO deals with about 50 patients at any one time.

Now that they've finally put a name to the disorder afflicting their daughter, Benay and Madore are determined to do everything they can to help Laurence develop as normally as possible, including acquiring a new"Crocodile" walker so she can get around by herself.

"Early intervention is huge," Benay said. "We're just fighting for her not to lose more skills."

While the couple saysthe quality of care from CHEO has been "unbelievable," Laurence is currently on wait lists for speech and occupational therapy, as well as an on-sitedaycare where that therapy is provided. The COVID-19 pandemic hasn't exactly helped speed things along.

For now Benay and Madore, both teachers with eastern Ontario's French public school board in Orlans, where the family also lives, covermany of those expenses themselves.

Even with OHIP and their own employee insurance, the family has so far spent about $20,000 on Laurence's care, not including the purchase of a second vehicleto get her to and from all those appointments.

"As soon as we get access to all these therapies, I think it's going to be easier on us," Benay said.

In the meantime, the family has been receiving lots of kind support from the community. The family of another "Rett girl" living in Orlanshas offered practical guidance, as has the Ontario Rett Syndrome Association. A local sports shop donated "Team Lolo" T-shirts, while another businessprovided purple silicone wristbands with the slogan, "Her fight is ourfight."

Alocal artist created special wish bracelets for the family, and a photographer friend offered free portraits, all on display on the Team Lolo Facebook page.

"The support of the community has been incredible," Madore said.

Even with that help, it will be a mighty struggle on multiple fronts. Bothparentshave sought therapy to help them deal with the unimaginable strain of their new reality.

"I say we've made our peace, but sometimes it just gets us,"said Benay.

If he's learned anything from the experience, it'sto never takelife's little moments for granted, he said.

"If I could take back any other time that I went to the park and I was on my cellphone instead of looking at my kids play, I would," he said. "Laurence won't be able to do that."

Originally posted here:
'Team Lolo' rallies round little girl with rare genetic disorder - CBC.ca

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When youre diagnosed with lung cancer, the next step will likely be to have a type of genetic test called next-generation sequencing, explains Keith Eaton, MD, PhD, an oncologist at Seattle Cancer Care Alliance and a professor of oncology at the University of Washington School of Medicine. This helps doctors know if the cancer tumors have mutations or alterations that are known to drive cancer growths, he says.

Among the many possible mutations is one on the epidermal growth factor receptor (EGFR) gene. If you test positive for that, it means you have EGFR-positive NSCLC.

EGFR is a protein found on the surface of both healthy and cancer cells. When the protein is damaged because of a genetic mutation, it doesnt perform the way it should, causing rapid cell growth and helping the cancer spread.

Although there are more than 70 different EGFR mutations in NSCLC, most are caused by alterations in exon 19 and exon 21, with exon 18 and exon 20 mutations being less common and more difficult to treat.

Once genetic testing has determined that you have an EGFR mutation, and identified the specific type, your oncologist may prescribe a targeted drug therapy to help slow the growth of cancer cells. Although these drugs wont cure your lung cancer, they can help slow progression of the disease and delay the onset of serious symptoms.

Link:
Targeted Therapies for EGFR+ NSCLC - Everyday Health

Recommendation and review posted by Bethany Smith

Using a new mini-brain model, a large team of researchers were able to demonstrate the damaging changes that occur in brain cells of people with frontotemporal dementia (FTD). Published in Cell on Aug. 19, the findings show a clear sequence of damaging events that eventually lead to cell death and provide potential pathways to develop and test treatments for this disease.

FTD is a form of dementia that can cause behavioral changes, trouble with communication, and movement problems. These symptoms result from brain cells, or neurons, dying in certain parts of the brain. Some FTD cases result from inheriting a mutated version of the MAPT gene, which causes abnormalities in a protein called tau.

To study how this mutation causes neurons to die, researchers created a new model that allows them to see the progression of events that leads to cell death. The study is the result of a large collaboration among researchers from the Icahn School of Medicine at Mount Sinai, Massachusetts General Hospital, Harvard Medical School, the Neural Stem Cell Institute, University of Southern California, Amgen Research, and Washington University in St. Louis.

In the study, researchers took advantage of technology that allows skin cells to turn back into stem cells. Humans begin fetal development as one cell, which divides to become a handful of cells, and eventually becomes the whole body. These early cells, called stem cells, are able to become any type of cell in the body. Starting with skin cells donated by people who carry a MAPT gene mutation that causes FTD, the scientists turned back the developmental clock and reverted those skin cells into stem cells. Then the researchers grew these stem cells into neurons and assembled those neurons into mini-brain models, looking for symptoms of cellular disease along the way.

By studying these FTD mini-brain models, the scientists discovered a sequence of events that goes wrong in neurons and eventually causes them to die. The neurons in the FTD mini-brain models were already showing signs of stress two months after development. At four months, researchers observed that tau protein was building up in the neurons and that the waste management systems that would normally help clear the build-up had started to fail.

In addition, the scientists discovered that the neurons had harmful changes in splicing a process by which the cell chooses which parts of a gene will be included in the protein it encodes. The faulty splicing was caused by an increase in the amount of a protein called ELAVL4, which regulates splicing of genes involved in communication between neurons. The splicing changes eventually caused the neurons to have too many glutamate receptors proteins that allow the neuron to hear an incoming chemical message. At six months, there were so many receptors that just getting messages from other neurons was overwhelming and toxic. Finally, the researchers tested a drug called apilimod that reduces the number of receptors present at connections between neurons and found that this could stop neurons from dying in the FTD mini-brain models.

The researchers noted some limitations; namely, that the mini-brain models do not have the helper cells, called glia, that are present in actual brains and provide support for neurons to function and communicate. In the future, they would like to explore how the helper cells affect the progression of disease in the neurons. Overall, the study provides critical insights into the events that cause neurons to die in people with genetically inherited FTD. These insights will help scientists to develop and test new therapeutics for the disease.

This research was supported in part by NIH grants R01AG056293 and F31NS117075.

These activities relate to NIHs AD+ADRD Research Implementation Milestone 2.N, Clarify unique and converging cellular mechanisms related to tau pathogenesis, C9orf72 hexanucleotide repeat expansions, GRN mutations, and other targets and pathways contributing to FTD neurodegeneration.

Reference: Bowles KR, et al. ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids. Cell. 2021;184(17):4547-4563. doi: 10.1016/j.cell.2021.07.003.

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Mini-brain model of frontotemporal dementia demonstrates the stages of dysfunction that lead to cell death - National Institute on Aging

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Dr. Green dedicated his career to furthering our understanding of skin regeneration and improving the outcomes for patients, Dr. Morgan said. I am honored not only to build on his work in helping improve the lives of patients, but to do so together with Shriners Hospitals for Children.

BOSTON (PRWEB) November 01, 2021

Shriners Childrens is pleased to announce that a cutting-edge gene and stem cell therapy research program to cure the rare skin blistering disorder is to be supported by the Howard Green Center for Childrens Skin Health & Research at Shriners Hospitals for Children Boston.

The lead scientist is Dr. Jeffrey Morgan who has proven track record of successful innovation and leadership skills. Dr. Morgan will guide this program as it pursues its goal of improving the outcomes and lives of patients with burns, skin disorders and dermatological conditions. The expert co-investigators on the research project are Robert Sheridan M.D., Mehmet Toner Ph.D., and Martin Yarmush M.D., Ph.D., all at Massachusetts General Hospital (MGH), Harvard Medical School (HMS) and Shriners Childrens Boston.

Dr. Morgan has extensive experience in genetically engineering skin to treat various genetic disorders or to deliver local wound healing factors. His interdisciplinary research has produced 110 publications in high-impact, peer-reviewed scientific journals. Working in translation and commercialization of technologies, Dr. Morgan is an inventor on thirteen issued patents and was elected a Fellow of the National Academy of Inventors. Innovations developed in his laboratories are distributed worldwide. Dr. Morgan has served in a number of leadership positions in academia as well as start-up companies.

Dr. Morgan trained at Massachusetts Institute of technology with Howard Green, M.D. Dr. Green was the first to grow skin grafts using a patients own cells, one of the earliest examples of stem cell therapy. The first grafts from cultured skin were used to treat two patients with life threatening burns at Shriners Hospitals for Children Boston in the early 1980s, cementing the impact of Dr. Greens discovery as well as his bond with Shriners Hospitals for Children.

Dr. Green dedicated his career to furthering our understanding of skin regeneration and improving the outcomes for patients, Dr. Morgan said. I am honored not only to build on his work in helping improve the lives of patients, but to do so together with Shriners Hospitals for Children.

Dr. Morgans appointment as principal investigator will help the Howard Green Center for Childrens Skin Health & Research take the next step in caring for patients with devastating skin injuries and conditions, said Jerry G. Gantt, Chairman of the Board of Trustees of Shriners Hospitals for Children. Dr. Morgans leadership in the field and longtime connection with Dr. Howard Green make him a natural choice to lead the research project, and we are honored to have him as an important part of our Shriners Childrens family.

About the Howard Green Center for Childrens Skin Health & Research at Shriners Childrens BostonFounded in 2016, the Howard Green Center for Childrens Skin Health and Research at Shriners Hospitals for Children Boston is a first-of-its kind center dedicated to advancing the field of regenerative medicine. The mission is to engage in translational research projects that work hand-in-hand with clinical practice to move regenerative medicine along the discovery continuum to bring new treatments to children more quickly. The ultimate goal is to further improve the outcomes and lives of patients with burns, skin disorders and dermatological conditions by providing world-class care regardless of the families ability to pay.

The Center is the vision of Dr. Green and his family. By making a generous and transformational gift to Shriners Hospitals for Children Boston, Mrs. Rosine Kauffmann Green ensured her late husbands work would continue on and help children in Boston and around the world.

About Shriners Childrens Shriners Childrens is changing lives every day through innovative pediatric specialty care, world-class research and outstanding medical education. Our health care system provides care for children with orthopedic conditions, burns, spinal cord injuries, and cleft lip and palate. All care and services are provided regardless of the families ability to pay. Since opening its first location in 1922, the health care system has treated more than 1.5 million children. To learn more, please visit shrinershospitalsforchildren.org.Media Contact:Mel Bower, Shriners Hospitals for Children813-281-8643, mbower@shrinenet.org

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A major research project to advance regenerative therapy for epidermolysis bullosa (EB) using transgenic stem cells - PR Web

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Peptides don't get talked about nearly enough as some other ingredients, like hyaluronic acid, vitamin C, and retinol, but their benefits are bountiful and play a key role in improving the elasticity and plumpness of your skin. As we previously reported, peptides essentially act as tiny messengers that send messages directly to our skin cells to promote better communication. (If only they could perform the same task to better our relationships we kid.)

At their core, peptides are "chains of different types of amino acids, like glycine, arginine, histidine, etc.," David Kim, M.D., a board-certified dermatologist in New York City explains to Allure. "Peptides in skin-care products are designed to boost and replenish amino acids, which are the building blocks for collagen production." Since amino acids are the smallest unit of a protein, peptides are able to mimic another type of protein, collagen. And compared to topical collagen, peptides also have a much smaller particle size and can actually be absorbed into your skin.

"By boosting collagen production, [peptides] can help reduce the appearance of fine lines and make the skin firmer," Dr. Kim says, adding that everyone can incorporate and benefit from using the powerhouse ingredient in their routines. To that end, he says that you shouldn't experience any side effects while using peptides. "If someone has a [negative] reaction, it's most likely from the preservatives, other chemicals, or essential oils in the formula, not the peptides," Dr. Kim explains.

Mature skin can definitely benefit from peptides since, unfortunately, our bodies start to produce less and less collagen as we age. And, not to mention, the quality of said collagen also decreases over time, board-certified dermatologist Corey L. Hartman, M.D. who is based in Birmingham, Alabama, explained to us. As a result, wrinkles start to form and skin begins to sag.

Common categories of peptides consist of signal, carrier, enzyme-inhibitor, and neurotransmitter-inhibitor depending on how they work. For example, copper peptides activate wound healing, which, in turn, stimulates collagen production. But that's a bit hard to remember, especially considering that labs and brands can and do trademark their own peptide complexes.

As a consumer, you'll often find "peptide" placed front and center on the actual product packaging, you can also look out for ingredients like dipeptide, tripeptide, and hexapeptide. It's not uncommon to see multiple peptides strung together to maximum their collagen-boosting benefits, like Paula's Choice Peptide Booster and The Ordinary "Buffet."

To help you sort out the vast market, we asked dermatologists and our very own Allure editors to recommend their favorite peptide skin-care products, so you can be well on your way to achieving smoother, firmer skin.

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15 Best Peptide Skin-Care Products 2021 for Smoother, Firmer, and Plumper Skin - Allure

Recommendation and review posted by Bethany Smith

Our Need For Things Lab-Grown

What was once something of the movies objects forming themselves in thin air is real now. Various things can be grown in a laboratory setting, some even on a large scale for commercial distribution. This technology could be a big part of the solution to establish sustainable societies. At the moment, we harvest organs from the deceased, rear animals for meat and dairy, destroy forests by cutting down trees for wood, mine the earth for diamonds, and the list goes on. All these things can already be lab-made or are on the brink of reality.

Once these staples of society can be mass-made affordably, they could supply the world while minimally impacting the natural environment. Acres of land wouldnt need to be used for food and building materials, meaning deforestation can cease, for starters. Looking at lab-grown meats alone: they require 99% less land than traditionally farmed meats, generate up to 96% fewer emissions, use up to 96% less water, and no animals need to be slaughtered in the process.

Naturally, there will be short-term disruptions, particularly job-related. For example, eco-friendly agriculture will mean fewer farms and agriculture jobs. But new employment opportunities will emerge in the scientific and technical fields related to lab-grown foods.

Whats the difference between 3D printing (additive manufacturing) and lab-grown, you may be wondering? 3D printing uses material as ink anything from plastic to cellular material whereas lab-grown materials start off as a bit of material that multiplies on its own, replicating natural processes. Thus, lab-grown material has the same cellular structure as the naturally occurring material and mimics the natural formation process but within a much shorter period.

In the future, we are bound to see various lab-grown breakthroughs coming from the medical field. Eventually, there should be alternative sources for organs and blood cultured from stem cells. In addition, there will likely be lab-produced medicines (lotions, ointments, balms, nutraceuticals, energy drinks, etc.), breast milk, and more.

Scientists are well on the way to functioning full-sized organs, with several innovations in fully functional mini-organs, or organoids, making headlines in recent years. For now, these organoids are tools for testing new drugs and studying human diseases. But soon enough, these research teams will take the technology to the next level and develop organs that can be used for implantation when someone needs an organ replacement. So far, the brain, liver, lungs, thymus, heart, blood, and blood vessels are among the growing list of lab-grown medical accomplishments.

A team of scientists from the University of Pittsburgh managed to grow miniature human livers using induced pluripotent stem cells (IPSCs) made from human skin cells. Meaning, in the far future, someone needing a liver transplant could have the organ grown from their own skin cells! This method may even reduce the chances of a patients immune system rejecting the new tissue because it would recognize the cells as self. Whats more, their lab-grown livers matured in under a month compared to two years in a natural environment.

The scientists tested their fully-functional mini-livers by transplanting them into rats. In this proof-of-concept study, the lab-made organs survived for four days inside their animal hosts, secreting bile acids and urea like a healthy liver would.

A research team led by the University Hospital Dsseldorf induced pluripotent stem cells (iPSCs) to grow into pea-sized brain organoids with rudimentary eye structures that sense light and send signals to the rest of the brain. They used skin cells taken from adult donors, reverted them back into stem cells, and placed them into a culture mimicking a developing brains environment, which encourages them to form specific brain cells. Their mini-brains grew optic cups, vision structures of the eye found where the optic nerve and retina meet. The cups even grew symmetrically, as eyes would, and were functional!

Jay Gopalakrishnan, a senior author of the study, said:

Our work highlights the remarkable ability of brain organoids to generate primitive sensory structures that are light sensitive and harbor cell types similar to those found in the body. These organoids can help to study brain-eye interactions during embryo development, model congenital retinal disorders, and generate patient-specific retinal cell types for personalized drug testing and transplantation therapies.

This achievement is the first time an in vitro system shows nerve fibers of retinal ganglion cells reaching out to connect with their brain target an essential aspect of the mammalian brain.

Scientists from Michigan State University developed functional miniature human heart models grown from stem cells complete with all primary heart cell types and with functioning chambers and vascular tissue. The models could help researchers better understand how hearts develop and provide an ethical platform for treating disease and testing drugs or new treatments.

The teams lab-grown mini hearts follow the fetal development of a human heart, offering a new view into that process. The organoids start beating by day six, and they grow into spheres approximately 1 mm (0.4 in) wide, with all significant cardiac cell types and multiple internal chambers by day 15.

Aside from research purposes, full-sized lab-grown hearts could solve the shortage problem of hearts the world faces today. More than 25 million people suffer heart failure each year. In the United States, approximately 2,500 of the 4,000 people in line for heart transplants receive them. That means almost 50% of the people needing a new heart to keep them alive wont get it.

Unlimited supplies of blood for transfusions are possible with lab-growing technology. Blood has been challenging to grow in the lab. However, real breakthroughs in creating artificial blood have sprung up!

A couple of years ago, Japanese researchers developed universal artificial blood that worked for all blood types. It even has a shelf life of one year stored at room temperature, therefore eliminating the problem of identifying blood type and storage simultaneously.

Like that wasnt impressive enough, last year, a team of scientists from the South China University of Technology, the University of New Mexico, and Sandia National Laboratories created artificial red blood cells (RBCs) with more potential capabilities than real ones! The synthetic RBCs mimic the properties of natural ones such as oxygen transport, flexibility, and long circulation times with the addition of a few new tricks up their sleeves, such as toxin detection, magnetic targeting, and therapeutic drug delivery. In addition, blood contains platelets and red blood cells, so these new cells could be used to make superior artificial blood.

Researchers from the University of British Columbia successfully coaxed stem cells to grow into human blood vessels. The thing that is so remarkable about this study is that the system of blood vessels grown in the lab is virtually identical to the ones currently transporting blood throughout the body. They are using this now to generate new leads in diabetes treatment. They put the lab-grown blood vessels in a petri dish designed to mimic a diabetic environment.

The global demand for meat and dairy is expected to rise by almost 90% over the next 30 years, regardless of the need to cut back on meat consumption. The risk of environmental damage and the rising food demand itself is a problem many have recently addressed. Thats why companies worldwide are on the verge of scaling up all sorts of lab processes to produce various food items, including steaks, chicken, cheese, milk, ice cream, fruits, and more.

Thinktank RethinkX even published research suggesting that proteins from precision fermentation (lab-grown protein using microbes) will be about ten times cheaper than animal protein by 2035, resulting in a collapse of the livestock industry. It says the new food economy will subsequently:

replace an extravagantly inefficient system that requires enormous quantities of inputs and produces considerable amounts of waste with one that is precise, targeted, and tractable. [Using tiny land areas, with a massively reduced requirement for water and nutrients, it] presents the most significant opportunity for environmental restoration in human historyFarm-free food offers hope where hope is missing. We will soon be able to feed the world without devouring it.

The worlds pace of meat consumption is placing a significant strain on the environment. Many studies show that eating less meat is just as crucial to slowing down global warming as using solar panels and zero-emissions vehicles. Unfortunately, animal farming generates an obscene amount of greenhouse gas emissions. Yet again, scientists come to the rescue, working diligently to fix this situation.

Over a decade ago, researchers created something akin to ground beef, but the complex structure of steak didnt happen until recently, with Aleph Farms debuting its thick-cut rib-eye steak in 2018. Furthermore, that first burger cost around US$345,000, but now the price has dropped dramatically to the point that lab-grown chicken is to be commercially produced and hit grocery store shelves as of this year.

SuperMeat, Eat Just, and Aleph Farms are todays most prominent startups working on getting lab-grown meats to people looking to lower their carbon and environmental footprints. In addition, their products are made from actual animal cells, so theyre real meat, but no animals had to be hurt or killed.

Speaking of Aleph Farms, the company also grew meat in space to show that it can even be done in a zero-gravity environment with limited resources.

Aside from Aleph Farms figuring out how to make steak like an authentic steak, a group of Harvard John A. Paulson School of Engineering and Applied Sciences (SEAS) researchers also devised a solution to the texture challenge. First, they made edible gelatin scaffolds that have the texture and consistency of real meat. Then, they grew rabbit and cow muscle cells on this scaffolding. The research demonstrates how realistic meat products are possible!

Parker and his Disease Biophysics Group developed a technique to produce the scaffolding. Its a fiber-production system inspired by cotton candy known as immersion Rotary Jet-Spinning (iRJS). It enabled the team to spin long nanofibers of a specific shape and size using centrifugal force. So, they spun food-safe gelatin fibers, creating the base upon which cells could grow.

Natural muscle tissue is composed of an extracellular matrix, which is the glue that holds the tissue together. As a result, it contributes to the texture of the meat. The spun gelatin fibers mimicked this extracellular matrix and provided the texture to make the lab-grown meat realistic. When the team seeded the fibers with animal (rabbit and cow) muscle cells, they anchored to the gelatin scaffolding and grew in long, thin structures, similar to real meat.

Meanwhile, Boston College developed a new, even greener technology that uses the skeleton of spinach leaves to support bovine animal protein growth. However, animal products arent eliminated from the process entirely. For example, lab-grown steak and chicken are created by painlessly harvesting muscle cells from a living cow, subsequently fed and nurtured to multiply and develop muscle tissue. But for this to have the same texture as real meat, the cells need structural support to flourish and are therefore placed in a scaffold.

Singapore is leading the way, becoming the first country in the world to approve the sale of Eat Justs cultured chicken. The company will start by selling nuggets at a restaurant. Meanwhile, SuperMeat has been handing out lab-grown chicken burgers in Israel for free. Theyre aiming to gain public acceptance of the idea.

The cultured chicken starts as a tiny number of harvested cells. Those cells are put into a bioreactor and fed the same nutrients the living animal would consume to grow. The cells multiply and turn into an edible portion of cultured chicken meat. The meats composition is identical to that of real chicken and offers the same nutritional value. And its cleaner because its antibiotic-free!

Labs are manufacturing dairy products by utilizing the fermentation process of living microbes to produce dairy proteins like whey and casein. These proteins are then used to make dairy products like butter, cheese, and ice cream. Two leading companies in this category are Imagindairy and Perfect Day, which already have several products on supermarket shelves in the United States.

Researchers havent figured out how to make fruits and vegetables yet, but a team is perfecting a cell cultivation process that generates plant biomass. The stuff tastes like the natural-grown product from which the cells were obtained and even exceeded its nutritional properties. Although, the texture of the biomass is different. For example, an apple isnt a solid apple akin to one grown from a tree. Instead, its like applesauce.

Lab-produced materials Including wood, diamonds, leather, glass, clothing, crystals, gels, cardboard, and plastics for making objects are either under development or already available. Many materials need to be taken from nature mined from the earth or cut down from forests. If they can be made in a lab instead, then people could leave nature alone!

A recent project led by a Ph.D. student at MIT paves the way for lab-grown wood one of the worlds most vital resources used to make paper, build houses, heat buildings, and so much more. The process begins with live plant cells cultivated in a growth medium coaxed using plant hormones to become wood-like structures. Next, a gel matrix is used to guide the shape of the cellular growth, and controlling the levels of plant hormones regulates the structural characteristics. Therefore, the technology could grow anything from tables and chairs to doors to boats and so on.

The environmental and socio-economic impact of traditionally mined diamonds has been exposed in recent years, and as awareness grows, the rising popularity of lab-grown diamonds does too. Mined diamonds are linked to bloody conflicts, and their excavation produces carbon emissions, requires substantial water use, and causes severe land disturbances.

Research has found that 1,000 tons of earth have to be shifted, 3,890 liters or more of water is used, and 108kg of carbon is emitted per one-carat stone produced. In addition, the traditional diamond mining industry causes irreversible damage to the environment, hence why, a decade ago, researchers started experimenting with how to grow them in the lab. Its been a feat a long time in the making, but we finally have lab-grown diamonds available for eco-conscious consumers to buy.

Diamonds are made of pure carbon. It takes extreme heat and pressure for carbon to crystalize. In nature, this happens hundreds of miles beneath the Earths surface. The ones being mined were shot out by a volcano millions of years ago. So how have scientists managed to hack such an intense and time-consuming process?

They began by investigating the mechanisms behind the diamond formation, zooming in at the atomic level. This led to the invention of a novel technology that utilizes the process of HPHT (high pressure, high temperature) to mimic the natural atmospheric conditions of diamond formation. Labs can use it to replicate the process and turn pure carbon into diamonds in 2-6 weeks.

Lab-grown gems are eco-friendly rocks, especially when theyre made entirely from the sky, like SkyDiamonds. Even the electricity used to grow its stones is from renewables, so theyll indeed be the worlds first zero-impact diamonds.

But how are the diamonds created out of thin air? They are made of carbon from the sky and rainwater. The sky mining facility is in Stroud. Energy is sourced from wind and sunlight. The CO2 is sourced directly from the air. Hydrogen is produced by splitting rainwater molecules in an electrolysis machine using renewable energy. The captured carbon and hydrogen are then used to make methane, used to grow the diamonds. The final product is a diamond anatomically identical to those mined from the ground. It is even accredited, fully certified, and graded by the International Gemological Institute.

Another company, Climeworks, is also making diamonds using carbon sucked from the sky. However, SkyDiamonds takes it a step forward by using rainwater and sunshine in the process.

The last lab-grown object were going to discuss is not something in the works, but an idea a fantastic and outlandish one thats jumping far into the future but was thought up in 2010 by Mercedes Benz. The luxury car companys ambitious BIOME idea shows just how wild imagination can get with lab-grown technology. It envisions a day when it can grow an entire supercar from scratch.

Mercedes-Benz explained when launching the concept:

The interior of the BIOME grows from the DNA in the Mercedes star on the front of the vehicle, while the exterior grows from the star on the rear. The Mercedes star is genetically engineered in each case to accommodate specific customer requirements, and the vehicle grows when the genetic code is combined with the seed capsule. The wheels are grown from four separate seeds.

This list of lab-grown possibilities is just the tip of the iceberg! Other materials in the pipeline include leather, chocolate, and silk. This intelligent technology can make anything a scientist can dream up! The only limit is the imagination and dedication of brilliant people.

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Lab-Growing Everything Might Be The Only Way To Attain A Sustainable World - Intelligent Living

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By Suzy Cohen

I was talking with a friend the other day who said she is experiencing hair loss, and that it is very disappointing to her because it appears to be getting worse. She was leaning on me for advice because she said,I cant look in the mirror anymore.

She has tried all the expensive shampoos, and color treatments, she has asked her doctor, and she has finally retreated to the reality of losing her hair, when she is still a very pretty woman in her mid 70s. Basically, shes given up hope for restoration.

Within minutes I was able to discern the problem for her, and arm her with information to regrow her hair.

Todays article is to help you too. Id like to show you some more possible causes for your own hair loss in case youve given up hope yourself. Its not always because of advancing age, although that is one obvious reason.

An estimated 100 hairs are shed every day! Thats hard to believe, but its true. If youre not growing new hairs, the hair loss becomes more evident. So hair loss and hair growth are two different things. You cant stop the shedding, thats natural, but you do have some control over new hair growth. You also have a little control over factors that lead to excessive hair shedding, maybe not stem cells but certainly other factors. The stem cell theory is brand new!

Stem cell studies suggest that the 1.5 grams of dead material that we shed daily (about 500 million cells) is replaced by new stem cells, and our stem cells are compromised, and lower in number as we age. The see-saw of hair growth to hair shedding tilts in favor of hair loss with higher age. But as you will soon see, my article will show what else accelerates the hair loss.

My point is that its not always about a reduction in hormones due to menopause, although that is another obvious reason. There are many common reasons that physicians can find and help you with. Im not dealing with the easy, obvious reasons for hair loss today. I want to tackle the harder, overlooked causes.

I think millions of you reading this today will benefit. At the end of the day, I feel like this: If you cant figure out the root cause of the hair loss, you are never going to solve it! So I want to help you determine the root cause because hair is important to many people. The loss of it makes people avoid looking in the mirror.

Statin Use.

People with elevated cholesterol sometimes take statin medications such as atorvastatin to help improve their ratios. A well-documented side effect of this category of medications is reduced production of thyroid hormone. And that leads to hair loss. This was exactly the problem with my friend the other day she told me she had been on a statin drug for about 2 or 3 years, and thats when her problem began. Statins, through their drug mugging effect, lead to reduced hair growth and extra shedding.

The fix for statins:Since you cant discontinue your medication, the fix for this problem is simple. Id suggest you talk to your physician and get a prescription for Cytomel or Compounded T3 timed release, or the generic drug Liothyronine which is a biologically active form of thyroid hormone. All of these require a prescription. You could also try a good thyroid supplement to support thyroid hormone synthesis. You may also want to look into one particular mineral called selenium.

Selenium supplementation all by itself may be useful because statins are a drug mugger of selenium, and without that mineral, you could become hypothyroid. For that matter, coffee is a drug mugger of iron and magnesium which also leads to hypothyroidism. You can watch my shortVIDEOabout that.

Im not recommending all of the above options, Im just giving you choices to consider. Work with your physician to determine what is best with you.

COVID.Aside from lingering issues like inability to smell properly, C*V1D can cause hair loss. A Lancet STUDY showed that 22% of hospitalized patients reported hair loss 6 months later. Its from increased hair shedding. We know that tremendous stress on the body leads to hair loss, and the hair loss occurs months later. So it may be a combination of stress from hospitalization, as well as something that the virus itself does to the body. Either way, this is a consideration for many people today who have had the respiratory illness, and now suddenly have wads of hair falling out. I would think it is temporary.

The fixfor illness:The fix here would be time and probiotics. Time will allow your body to reduce all those stress chemicals that you had during illness. The probiotics havethe ability to counteract hair loss by supporting your bodyin a unique way more specifically they can help manage new hair growth and support the health of your hair follicles which enable faster hair growth.

Certainly, other factors may be involved like antibody formation to ones own hair follicles, but that has yet to be teased out. It may very well also cause telogen effluvium which I will discuss next.

Antibiotics and Antifungals.Many people today are treating themselves for mold illness or other infections such as Lyme disease, H. pylori, SIBO, or even acne. The medications that kill organisms are well known to cause hair loss, and this begins about 2 to 4 months into drug therapy. Its often overlooked by doctors who have one goal in mind, that is to cure your infection.

But the hair loss can be profound and frightening to the patient, so Im listing this category of medications so you understand what is happening and can take action. Itraconazole therapy is widely known to cause hair loss, and the first case study I could find was from 1986. Its no secret, but the importance of this medication and similar ones for serious illness cannot be dismissed, nor can they be discontinued if they are for a life-threatening systemic infection.

The antibiotics and antifungals can interfere with your normal cycle of hair growth. The term for this is called Telogen effluvium which causes the hair roots to be forced into a resting state. Telogen hair shedding is a condition can be acute or chronic and with medications, I would guess its chronic until discontinuation of the offending agent. After that it may take 6 months to a year to regrow.

The fix for antibiotics and anti-fungals:Probiotics can help for the same reason I explained earlier in this article. Probiotics have a counter effect to the intestinal damage done by the antibiotics. Looking into natural remedies may also be useful to some of you if the medications are too harsh. For example, Oil of Oregano and Enteric Coated Peppermint Oil capsules, Andrographis, and even Berberine are useful for some situations like SIBO, and Lyme, systemic mycosis and more! There are hundreds of choices when it comes to natural antimicrobials. If you can talk to your doctor about using more simple remedies, then perhaps the hair loss will not be so profound.

Collagen Loss.As we age, our ability to produce collagen diminishes. Because collagen protects the skin, and the layer of skin that holds the hair roots, it may help indirectly with age-related hair loss. To be clear, collagen is not really in the hair, it simply supports the hair follicle. Collagen production goes down with age, so its one piece of the puzzle.

The fix for collagen loss:Consider collagen peptides which go on to form collagen in the body. It can support healthy beautiful skin, as well as hair since the collagen peptides help build hair proteins and strengthen skin around your hair roots.

Reduced Parathyroid Hormone.The condition is termed Hypoparathyroidism. This has nothing to do with the thyroid gland, it is another set of glands that reside behind your thyroid gland, and there are four of them. The parathyroid glands regulate calcium and produce parathyroid hormone or PTH.

Symptoms of low parathyroid hormone include brittle nails, patchy hair loss, thinning eyebrows, anxiety and sometimes muscle weakness, fatigue and headaches. Most doctors do not test for the condition, but its quite common. So is the opposite condition called Hyperparathyroidism where the parathyroid glands produce too much parathyroid hormone (PTH).

If you have low PTH, you will experience hair loss and you can go for years without them figuring this out!

The fix for low PTH:Test yourself by self-ordering your own blood test, or asking your doctor to test forPTH hormone, along with vitamin D, serum calcium and ionized calcium.All four of these tests is critical. You will go from there when you get your results because the treatment for low PTH is different than the treatment for high PTH.

Oftentimes, the treatment for low PTH is simple, and nutrients are used, or PTH hormone is given to restore declining levels. But either way, at least you will know if your hair loss is being driven by a problem of the parathyroid glands. There is more information in thisPAPER

for doctors reading this today who want to understand the mechanisms behind the PTH-driven hair loss.

A PTH blood test, along with the others listed above is a very simple, affordable way to evaluate any person experiencing chronic fatigue and hair loss! If left untreated, the PTH imbalance can lead to heart problems such as Left Ventricular Hypertrophy and more. The best site for information on the parathyroid gland isparathyroid.com.Ive also written an article about calcium and PTH which may be useful and it is availableHERE.

Autoimmune Process.Many people suffer with autoimmune disease and do not even know it. Thats because the symptoms get treated one by one, with one medication at a time.You have joint pain, you get celecoxib.You have fatigue, or night sweats, youll be given an antidepressant or estrogen drug.You have neuropathy, you get gabapentin.You have a few white spots on your skin, so now you get clobetasol or betamethasone.You get a low thyroid test, so you are put on levothyroxine.You have dry eyes or dry cough, youll be given a few more drugs!

All of these symptoms could actually be autoimmune driven. In the same respective order, it would look like this:

You have joint pain, it might be Rheumatoid Arthritis.You have neuropathy, it could be Small Fiber Neuropathy, Multiple Sclerosis or Autoimmune NeuropathyYou have fatigue, or night sweats, it may be Sarcoidosis.You have a few white spots on your skin, you could have Vitiligo.You have dry eyes or dry cough, you may have Sjgrensdisease.You get a bad thyroid test, you may haveHashimotos thyroiditisorGraves disease.

My point is to make you wonder if youve been diagnosed properly, because if you have any one of these autoimmune disorders, you could also have antibodies against your own hair follicles. Hair loss is very common with all of the conditions above. Autoimmune illness is a very common, but overlooked cause for hair loss. Another one that comes to mind that I didnt list above is Celiac disease. Because the gut cannot absorb all the nutrients like normal, a deficiency may occur, which then affects hair growth. Many laboratories today test for autoimmune illness.

The fix for autoimmune process:First of all, make sure you are diagnosed properly. If you think your hair loss is being driven by an autoimmune process, you can look into new, appropriate methods of treatment. What I mean specifically, is if you are only being treated for dry eyes with a fish oil supplement, but you find out that you actually have Sjgrens, then you can get proper treatment for the Sjgrens and that in and of itself may slow down the hair loss. Improper treatment of an autoimmune process only allows the self-attack to continue. So one fix is getting adequate, proper treatment for your specific illness and your physician will help you do that. The other fix for an autoimmune illness is to improve your diet. Nothing makes the body weaker than eating junk food, and exposing yourself to more free radicals which increase the inflammatory cytokines. So a clean, healthy, well-balanced diet is critical. Gluten and casein are two common proteins which exacerbate autoimmunity.

In closing, there are many common, but overlooked causes for hair loss. I encourage you to do more searching into the possible reasons behind your hair loss, and not to give up. As always, I would urge you to consider taking nutrients that are known to support hair growth and eating a healthy diet that excludes unhealthy oils and refined or manufactured foods. I would also encourage you to avoid excessive or harsh hair treatments which can ultimately contribute to hair loss.

See the article here:
Common But Overlooked Causes for Hair Loss - The Cherokee Scout

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Whether you're still coming to terms with that earlier pre-commute wake-up call or being kept awake by the little ones on the nightly, it's likely you're feeling (and seeing) the results of disrupted sleep. According to a study from the University of Southampton, the number of people experiencing insomnia rose from one in six to one in four during the height of the pandemic and the majority are experiencing more of the same.

'The last 18 months have been turbulent, and we need to prioritise sleep more than ever', says Dr Anna Persaud, CEO of This Works. 'It is essential good health, well-being and quality of life.'

Nights spent tossing and turning have an impact on our energy levels and yes, our skin too.

Skin cells have their own schedule. Sleep paves the way for their 'repair and renew' phase, that's when stem cells work to replace old cells with bright, shiny, new fully-functioning ones. The less sleep we get, the less efficient this process is. Enter dull, lacklustre skin. So, how to combat it?

According to skincare and laser specialist Debbie Thomas, gentle exfoliation can mimic the glow you get from a great night's sleep. 'To brighten up the skin first of all address your exfoliation. Gentle and regular is best, I always recommend a liquid exfoliator over a scrub, think acids or enzymes.'

Work vitamin C into your morning skincare routine too. 'Vitamin C is known for its brightening qualities,' explains Thomas, 'and with consistent use it also helps boost collagen levels too.' Never underestimate a two-pronged approach.

Who doesn't wake up with a slightly puffy face in the morning? Puffiness comes from fluid retention and fluid retention can be eased with a gentle lymphatic drainage massage. 'De-puffing your face takes a little gentle arm work', says Thomas. 'While washing your face with a slippery cleanser, use the heel of your hand to firmly massage up and out in sweeping movements to push the fluid build-up towards your ears and the lymph nodes. The idea is to push up to lift then sweep out to drain. Just make sure that your skin is a little slippery so that you aren't tugging at it.'

'For puffy eyes specifically, reach for something cold,' advises Thomas. 'Holding something cold against your eye area helps to tone down inflammation and puffiness. If you don't own a cryo-massage tool then grab an ice cube with some tissue, let it warm enough to be slippery on your skin then sweep it around your eyes and over your skin for 1-2 minutes.'

It goes without saying, but routine is key says This Works sleep expert Dr Anna Persaud. 'On a practical level establishing and maintaining a nightly wind down or sleep routine helps to reset and rebalance our minds. Try dimming lights, limiting brain stimulation - for example turning off Netflix an hour earlier and disconnecting from our devices - can help to signal to our brain that it is time to sleep.'

And from a beauty perspective? Never knock the instant results of a decent under-eye concealer.

This new overnight mask is infused with kombucha to help combat irritation and redness, and niacinamide for super soft, supple skin. Simply pop on overnight and let it get to work whilst you sleep, leaving skin refreshed, energised and glowy with minimal work. A time saving treasure.

A one stop shop for refreshed and rejuvenated skin, the Essential Skin Grade treatment combines the necessary services for your skin concerns as recommended by consultation. Think mild peels, extractions, microdermabrasion, Byonik pulse triggered cold laser, photodynamic red and blue light therapy, lymphatic drainage, radiofrequency, and ultrasound product infusion, as well as an assortment of serums and masks

"Our collection of pillow sprays all contain a clinically proven Sleep Superblend to you fall asleep faster. A natural, aromatherapeutic fragrance with 100% natural essential oils including French Lavender, wild Camomile and Vetivert. The Sleep Plus, Love Sleep and Deep Sleep Pillow Sprays calm both the mind and body and target various sleep issues. Independent consumer studies found that after using the product, 97% reported less broken sleep and 89% said they fell asleep more quickly than usual. As a result of using Deep Sleep Pillow Spray, 98% felt more relaxed in the morning and 97% felt less tired the day after using. We've sold over 8 million pillow sprays thanks to ongoing scientific research and continuous product innovation so it's fair to say they really work." Dr Anna Persaud, CEO, This Works and VP Skincare & Topicals, Canopy Growth

Angela Caglia's ultra-luxurious Self Love Rose Quartz Eye Mask is garnering a cult following for its calming and soothing properties. If you're drawn to the energy in crystals, real rose quartz is woven together to create a pampering eye mask to release tension and focus the mind. Sign us up.

"You don't need us to tell you that sleeping is a fundamental part of a healthy lifestyle", says Becky O'Neill, Global Brand Manager of Sanctuary Spa. "It improves concentration levels, mood and ability to cope with stress. Getting a good night's rest also lowers the levels of cortisol in the body, promoting a healthy and stress-free mindset". So soak away the days stress with Sanctuary Spa's wellness bath salts. The rest of the range includes a CBD calming oil, de-stress balm and pillow spray to help you properly unwind from bath to bed.

To touch up dark circles on the go, this full coverage but easily blendable concealer has a smooth, buttery formula that blends seamlessly into skin for a brightening lift. The best part? It doesn't dry out and crack, so this second skin will last as long as your day does.

This lightweight but potent serum packs a punch to give fatigued skin a dose of Vitamin C for a brighter complexion, and perceptibly plumper and more even skin. Use before moisturiser for a shot of extra hydration.

According to Slip, 'by the time we are 60 we will have slept for an average of 20 years' so better make that time count. This pure silk eye mask (and accompanying range of pillowcases) are anti aging, anti sleep crease, anti bed head and can help to reduce friction and irritation on delicate facial skin. Perfect for blocking out the early morning light and getting you to sleep through to your alarm.

Ease tense and aching joints with this concentrated CBD balm that is a non-greasy and easily absorbed formula, to massage into localised areas and melt away stress.

Aromatherapy is great for unwinding, and this calming and tranquil scented candle has notes of Lavender and Ylang Ylang. to help you take a moment to ground yourself and reset.

READ MORE: The Best Body Scrubs To Soften Dry Winter Skin, Fast

READ MORE: November 2021 Beauty Edit: The Best New Beauty Buys Out This Month

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How To Look Less Tired According To Experts | Grazia - Grazia

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Levodopa, the commonly prescribed dopamine-restoring drug for Parkinson's disease, loses its effectiveness over time. Researchers at Northwestern University say they've found a potential method forreviving the drug's benefits: gene therapy.

The researchers restored the ability of neurons to convert levodopa into dopamine in mice with a gene therapy that targets the substantia nigra region of the brain. By effectively recreating a healthy environment in the brain, the therapy eliminated abnormal brain activity that causes movement difficulties in Parkinson's patients, the teamreported in Nature.

The new findings also provided insights into why dopamine-releasing neurons wither away in Parkinson's. By studying the genetic features of theneurons in Parkinson's models, the Northwestern researchers showed that damage to the mitochondria, the power suppliers inside of dopamine-producing neurons, triggers events that lead to Parkinson's.

"Whether mitochondrial damage was a cause or consequence of the disease has long been debated. Now that this issue is resolved, we can focus our attention on developing therapies to preserve their function and slow the loss of these neurons," said James Surmeier, Ph.D., chair of neuroscience at Northwestern's Feinberg School of Medicine, in a statement.

Theinsights could be usedto develop tests that identify Parkinson'sin people five to 10 years before it manifests, Surmeier suggested.

RELATED:Neurocrine exits $165M Parkinson's pact with Voyager after FDA hold

Efforts to develop gene and cell therapies for Parkinson's are underway, with mixed results so far.Bayer has started two early-stage trials: a gene therapy being developed byits subsidiary AskBio and a stem cell treatment from its unit BlueRock Therapeutics.

Voyager Therapeutics has suffered several setbacks in its efforts to develop a gene therapy for Parkinson's.Sanofi ended its deal with Voyager in October 2017, AbbVie nixed its pact in August 2020 and Neurocrine Biosciences axed its tie-up in February of this year after a clinical hold was placed on a phase 2 trial last December. Pfizer inkeda $630 million pact with Voyager last month to use its capsids in neurologic and cardiovascular gene therapies, though the specific disease targets were not disclosed.

Other researchers are also looking for innovative ways to spruce up dopamine-producing neurons. A team at the University of San Diego, California developeda gene therapy technique that turned astrocyte cells into dopamine-producing neurons, for example.

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Parkinson's gene therapy restores responses to dopamine-boosting drug in mouse models - FierceBiotech

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BEIJING & CAMBRIDGE, Mass., November 01, 2021--(BUSINESS WIRE)--CANbridge Pharmaceuticals, Inc., a leading China-based global rare disease-focused biopharmaceutical company committed to the research, development and commercialization of transformative therapies, announced that it has entered into a two-year sponsored research agreement with the University of Washington School of Medicine, in Seattle, Washington, for gene therapy research in Duchenne muscular dystrophy (DMD), a rare neuromuscular disease. The program will be under the direction of Jeffrey Chamberlain, Ph.D., professor in the Departments of Neurology, Medicine and Biochemistry, the McCaw Endowed Chair in Muscular Dystrophy at the University of Washington School of Medicine, and Director of the Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center of Seattle. Guy Odom, Ph.D., Research Assistant Professor in the Department of Neurology at the University of Washington, will serve as the co-principal investigator.

Dr. Chamberlain is internationally renowned as a pioneer and one of the top researchers in the field of gene therapies for muscle diseases. His lab has been studying muscular dystrophy mechanisms, particularly dystrophin structure, and gene therapy approaches. They were the first to show that adeno-associated virus (AAV) vectors could be used for systemic gene delivery to muscle.

"We are thrilled to enter into this research agreement with Dr. Chamberlain, who has been leading the world in DMD research for decades, as we advance our gene therapy research program in neuromuscular disorders," said James Xue, Ph.D., Founder, Chairman and CEO, CANbridge Pharmaceuticals Inc. "Duchenne muscular dystrophy is the most common of the hereditary neuromuscular diseases and, despite recent approvals for exon-skipping therapies, remains severely underserved medically. We believe that the best gene therapy for this devastating disease has not yet been discovered, and we look forward to working with Dr. Chamberlain and his team on their innovative research, as well as the new treatments that may arise from it."

Story continues

About Dystrophinopathies

Duchenne muscular dystrophy (DMD) is a rare muscle disorder, but it is one of the most frequent genetic conditions that primarily affects males. DMD usually presents in early childhood and is characterized by rapidly progressive muscle degeneration and weakness, leading to loss of ambulation by about 12 years of age. Cardiomyopathy is a common cause of morbidity and death in DMD patients. The incidence of DMD is estimated to be 1/3,500 1/5,000 male births worldwide and 1/4,560 in China, according to the National Organization for Rare Disease and published peer review.

About the Chamberlain Laboratory, University of Washington Department of Neurology

The lab is focused on muscular dystrophy research with two major goals: to develop a better understanding of the molecular basis of the pathophysiology of the diseases, and to develop gene and cell therapies that will correct and treat the muscular dystrophies. Major targets for therapy include Duchenne muscular dystrophy and LGMD2I.

About the Odom Laboratory, University of Washington Department of Neurology

The lab is focused on developing a more thorough understanding of the inherent muscle biology occurring during muscular dystrophy disease progression. As such, the labs research generally involves developing or improving genetic-based therapies.

About CANbridge Pharmaceuticals Inc.

CANbridge Pharmaceuticals Inc. is a China-based global rare disease-focused biopharmaceutical company committed to the research, development and commercialization of transformative therapies.

CANbridge has a comprehensive and differentiated pipeline of 13 drug assets with significant market potential, targeting some of the most prevalent rare diseases and rare oncology.

These include Hunter syndrome (MPS II) and other lysosomal storage disorders (LSDs), complement mediated disorders, hemophilia A, metabolic disorders, rare cholestatic liver diseases and neuromuscular diseases, as well as glioblastoma multiforme (GBM).

CANbridge strategically combines global collaborations and internal research to build and diversify its drug portfolio and invest in next-generation gene therapy technologies for rare disease treatments. CANbridge global partners include, but are not limited to, Apogenix, GC Pharma, Mirum, Wuxi Biologics, Privus, the University of Massachusetts Medical School (UMass) and LogicBio.

For more on CANbridge Pharmaceuticals Inc., please go to: http://www.canbridgepharma.com.

View source version on businesswire.com: https://www.businesswire.com/news/home/20211101005332/en/

Contacts

CANbridge Pharmaceuticals Inc. ir@canbridgepharma.com

Media: Deanne Eagle Planet Communications deanne@planetcommunications.nyc 917.837.5866

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CANbridge Pharmaceuticals Enters into Duchenne Muscular Dystrophy Gene Therapy Research Agreement with University of Washington School of Medicine -...

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image:Alliance for Cancer Gene Therapy (ACGT) Scientific Advisory Council Chair Michael T. Lotze, MD, of the University of Pittsburgh, will be honored with the 2021 Society for Immunotherapy of Cancer (SITC) Lifetime Achievement Award at the SITC 36th Annual Meeting, Nov. 10-14, in Washington D.C. view more

Credit: University of Pittsburgh

Alliance for Cancer Gene Therapy (ACGT) Scientific Advisory Council Chair Michael T. Lotze, MD, of the University of Pittsburgh, will be honored with the 2021 Society for Immunotherapy of Cancer (SITC) Lifetime Achievement Award at the SITC 36th Annual Meeting, Nov. 10-14, in Washington D.C.

Dr. Lotze is currently Chief Cellular Therapy Officer of Nurix Therapeuticsand professor of surgery, immunology and bioengineering at the University of Pittsburgh School of Medicine. He is widely regarded as the leader in exploring cancer as a disorder of cell death and is devising novel strategies to approach the disease in this context. He initiated the first approved gene therapy protocols at the National Institutes of Health and has treated more than 100 patients on gene therapy protocols at the University of Pittsburgh. He is the co-inventor of 10 patents in dendritic cell vaccines and antigen discovery, and author of more than 500 scientific papers and chapters in basic and applied tumor immunology and cytokine biology.

Dr. Lotze leads the 14 members of the ACGT Scientific Advisory Council in rigorously reviewing and monitoring the research selected for funding by ACGT. The importance and value that the Council contributes to the ACGT funding process distinguishes ACGT from many other funding agencies. Council members are among the most accomplished thought-leaders in the field of cancer cell and gene therapy. They are experienced scientists whose decades of research and patient care have elevated them into important leadership positions at top institutions across the U.S. and in Canada.

Society for Immunotherapy of Cancer is a member-driven organization dedicated to improving cancer patient outcomes by advancing the science and application of cancer immunotherapy through educational programs that foster scientific exchange and collaboration. Learn more about SITC at http://www.sitcancer.org.

Alliance for Cancer Gene Therapy

For more than 20 years, Alliance for Cancer Gene Therapy (ACGT) has funded research that is bringing innovative treatment options to people living with deadly cancers treatments that save lives and offer new hope to all cancer patients. The organization funds researchers who are pioneering the potential of cancer cell and gene therapy talented visionaries whose scientific advancements are driving the development of groundbreaking treatments for ovarian, prostate, sarcoma, glioblastoma, melanoma and pancreatic cancers. 100% of all public funds raised directly support research and programs. For more information, visitacgtfoundation.org, call (203) 358-5055,or join the Alliance for Cancer Gene Therapy community onFacebook,Twitter,LinkedIn, Instagram andYouTube @acgtfoundation.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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ACGT Scientific Advisory Council Chair Michael T. Lotze, MD, honored with Lifetime Achievement Award from Society for Immunotherapy of Cancer -...

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PALO ALTO, Calif., Nov. 3, 2021 /PRNewswire/ --BridgeBioPharma, Inc. (Nasdaq: BBIO),a commercial-stage biopharmaceutical company focused on genetic diseases and cancers, today announced that the first patient has been dosed in CANaspire, its Phase 1/2 clinical trial of BBP-812, an investigational adeno-associated virus (AAV) 9 gene therapy for the treatment of Canavan disease. Canavan disease is an ultra-rare and fatal disease that affects approximately 1,000 children in the United States and European Union. There are currently no approved therapies for the condition.

"Dosing the first patient in our Canavan disease trial is a significant achievement for our gene therapy team and we would not be here without the support of our collaborative partners in the patient, medical and scientific communities," said Eric David, M.D., J.D., CEO at BridgeBio Gene Therapy. "We are committed to the Canavan community and will work to advance this trial and the other programs in our gene therapy portfolio because we believe deeply in the potential of gene therapy to improve and save lives."

"Based on the efficacy and safety data we've observed in our preclinical studies, we are hopeful that our investigational gene therapy can become a meaningful treatment option for children living with Canavan. Right now, these children only have access to supportive care because there are currently no approved therapies to treat this devastating disease," added Adam Shaywitz, M.D., Ph.D., chief medical officer at BridgeBio Gene Therapy.

The Phase 1/2 open-label study is designed to evaluate the safety, tolerability, and pharmacodynamic activity of the company's AAV9 gene therapy, BBP-812, in pediatric patients with Canavan disease. In the initial dose-finding phase of the study, each patient will receive a single intravenous (IV) infusion of BBP-812. The primary outcomes of the study are safety, as well as change from baseline of urine and central nervous system N-acetylaspartate (NAA) levels. Motor function and development will also be assessed. Preclinical proof-of-concept data have shown the approach restores survival and normal motor function.

"Gene therapy is designed to treat diseases at their source, which for Canavan disease would be an extremely beneficial treatment option. Through this trial, we hope to provide evidence that this investigational therapy could represent a promising treatment option for Canavan patients and their families. We are grateful to the first family for participating," said Florian Eichler, M.D., director of the Leukodystrophy Service and principal investigator at Massachusetts General Hospital, the first clinical site open in the CANaspire trial.

BridgeBio's gene therapy was originally developed by Guangping Gao, Ph.D., and Dominic J. Gessler, M.D., Ph.D., at the University of Massachusetts Medical School. Dr. Gao, a pioneer in AAV gene therapy, was also the first person to clone the ASPA gene, which in its mutated form causes Canavan disease. Dr. Gao has been working on developing a cure for Canavan disease for more than 25 years.

"Throughout my career, I've been passionate about connecting with families in the Canavan community to understand how to help them through their journey. After decades of research and work, I'm thrilled that we have dosed the first patient in this trial. I'm hopeful that this represents a meaningful turning point for the Canavan community," said Dr. Gao, co-director of the Li Weibo Institute for Rare Diseases Research, director of the Horae Gene Therapy Center and Viral Vector Core, and professor at University of Massachusetts Medical School.

BridgeBio's investigational AAV9 gene therapy for Canavan disease is one of the Company's 14 programs that are in the clinic or commercial setting for patients living with genetic diseases and genetically-driven cancers. An initial Phase 1/2 data readout for Canavan disease is expected in 2022. For more information about the CANaspire trial, visit TreatCanavan.com or ClinicalTrials.gov (NCT04998396).

About BBP-812BBP-812 is an investigational AAV9 gene therapy for Canavan disease. Using AAV gene therapy, BridgeBio seeks to deliver functional copies of the ASPA gene throughout the body and into the brain, potentially correcting the disease at its source. Preclinical proof-of-concept results in Canavan disease models have shown the approach restores survival and normal motor function. BBP-812 was granted Fast Track Designation, Rare Pediatric Drug Designation, and Orphan Drug Designation by the U.S. Food and Drug Administration. BBP-812 was also granted Orphan Drug Designation by the European Medicines Agency.

About Canavan DiseaseAffecting approximately 1,000 children in the United States and European Union, Canavan disease is an ultra-rare, disabling and fatal disease with no approved therapy. Most children are not able to meet developmental milestones, are unable to crawl, walk, sit or talk, and pass away at a young age. The disease is caused by an inherited mutation of the ASPA gene, which codes for aspartoacylase, a protein that breaks down a compound called N-acetyl-L-aspartic acid (NAA). Deficiency of aspartoacylase activity results in accumulation of NAA, and ultimately results in toxicity to myelin in ways that are not well understood. Myelin insulates the nerves, and without it, neurons are unable to send and receive messages as they should. The current standard of care is limited to supportive therapy.

About BridgeBio Pharma, Inc.BridgeBio Pharma, Inc. (BridgeBio) is a commercial-stage biopharmaceutical company founded to discover, create, test and deliver transformative medicines to treat patients who suffer from genetic diseases and cancers with clear genetic drivers. BridgeBio's pipeline of over 30 development programs ranges from early science to advanced clinical trials, and its commercial organization is focused on delivering the company's first two approved therapies. BridgeBio was founded in 2015 and its team of experienced drug discoverers, developers, and innovators are committed to applying advances in genetic medicine to help patients as quickly as possible. For more information visit bridgebio.comand follow us onLinkedInandTwitter.

BridgeBio Pharma, Inc. Forward-Looking StatementsThis press release contains forward-looking statements. Statements we make in this press release may include statements that are not historical facts and are considered forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended (the "Securities Act"), and Section 21E of the Securities Exchange Act of 1934, as amended (the "Exchange Act"), which are usually identified by the use of words such as "anticipates," "believes," "estimates," "expects," "intends," "may," "plans," "projects," "seeks," "should," "will," and variations of such words or similar expressions. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act and are making this statement for purposes of complying with those safe harbor provisions. These forward-looking statements, including statements relating to the timing and success of BridgeBio's Phase 1/2 clinical trial of BBP-812 for the treatment of Canavan disease, expectations, plans and prospects regarding BridgeBio's regulatory approval process for BBP-812, the ability of BBP-812 to treat Canavan disease in humans, and the timing and success of initial top-line Phase 1/2 date of BBP-812, reflect our current views about our plans, intentions, expectations, strategies and prospects, which are based on the information currently available to us and on assumptions we have made. Although we believe that our plans, intentions, expectations, strategies and prospects as reflected in or suggested by those forward-looking statements are reasonable, we can give no assurance that the plans, intentions, expectations or strategies will be attained or achieved. Furthermore, actual results may differ materially from those described in the forward-looking statements and will be affected by a number of risks, uncertainties and assumptions, including, but not limited to, BridgeBio's ability to continue and complete its Phase 1/2 clinical trial of BBP-812 for the treatment of Canavan disease, past data from preclinical studies not being indicative of future data from clinical trials, BridgeBio's ability to advance BBP-812 in clinical development according to its plans, the ability of BBP-812 to treat Canavan disease, the ability of BBP-812 to retain Fast Track Designation, Rare Pediatric Drug Designation, and Orphan Drug Designation from the U.S. Food and Drug Administration and Orphan Drug Designation from the European Medicines Agency, and potential adverse impacts due to the global COVID-19 pandemic such as delays in regulatory review, manufacturing and clinical trials, supply chain interruptions, adverse effects on healthcare systems and disruption of the global economy; as well as those set forth in the Risk Factors section of BridgeBio's most recent Annual Report on Form 10-K filed with the U.S. Securities and Exchange Commission (SEC) and in subsequent SEC filings, which are available on the SEC's website atwww.sec.gov.Moreover, BridgeBio operates in a very competitive and rapidly changing environment in which new risks emerge from time to time. Except as required by applicable law, we assume no obligation to update publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

BridgeBio Media Contact: Grace Rauh[emailprotected](917) 232-5478

BridgeBio Investor Contact: Katherine Yau[emailprotected](516) 554-5989

SOURCE BridgeBio

https://bridgebio.com/

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BridgeBio Pharma Announces Dosing of First Patient in Phase 1/2 Trial of Investigational Gene Therapy for Canavan Disease - PRNewswire

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Updates from OTL-201 Clinical Proof-of-Concept Study in MPS-IIIA and OTL-204 Preclinical Study for GRN-FTD at ESGCT Showcase Potential for HSC Gene Therapy in Multiple Neurodegenerative Disorders

Launch Activities for Libmeldy Across Key European Countries, including Reimbursement Discussions, Progressing in Anticipation of Treating Commercial Patients

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Cash and Investments of Approximately $254M Provide Runway into First Half 2023

BOSTONandLONDON, Nov. 04, 2021 (GLOBE NEWSWIRE) --Orchard Therapeutics (Nasdaq: ORTX), a global gene therapy leader, today reported financial results for the quarter ended September 30, 2021, as well as recent business updates and upcoming milestones.

This quarter, we are pleased by the progress demonstrated by our investigational neurometabolic HSC gene therapy programs with promising preclinical and clinical updates at ESGCT, said Bobby Gaspar, M.D., Ph.D., chief executive officer of Orchard. With follow-up in OTL-201 for MPS-IIIA patients now ranging between 6 and 12 months, biomarker data remain highly encouraging, showing supraphysiological enzyme activity and corresponding substrate reductions in the CSF and urine. The launch strategy for Libmeldy is also advancing in Europe with momentum building on reimbursement discussions and patient finding activities.

Recent Presentations and Business Updates

Data presentations at ESGCT

Clinical and pre-clinical data from across the companys investigational hematopoietic stem cell (HSC) gene therapy portfolio were featured in two oral and seven poster presentations at the European Society of Gene & Cell Therapy Congress (ESGCT) on October 19-22. Highlights from key presentations are summarized below:

R&D Investor Event Summary

In September, Orchard hosted an R&D investor event highlighting its discovery and research engine in HSC gene therapy, including an update on the OTL-104 program in development for NOD2 Crohns disease (NOD2-CD) and potential new applications in HSC-generated antigen-specific regulatory T-cells (Tregs) and HSC-vectorization of monoclonal antibodies (mAbs).

The discussion also covered the differentiated profile of Orchards HSC gene therapy approach, which has exhibited favorable safety, long-term durability and broad treatment applicability.

Libmeldy (atidarsagene autotemcel) launch in Europe

Orchard is providing an update on the following key launch activities for Libmeldy in Europe:

Executive organizational update

The company also announced that Frank Thomas will step down from his role as president and chief operating officer, following a transition in 2022. A search for a chief financial officer is underway. Mr. Thomas other responsibilities will be assumed by existing members of the leadership team in commercial and corporate affairs. Orchard recently strengthened the executive team with the appointments of Nicoletta Loggia as chief technical officer and Fulvio Mavilio as chief scientific officer and the promotion of Leslie Meltzer to chief medical officer.

I want to extend my gratitude to Frank Thomas for his immense contributions to Orchard, said Gaspar. During his tenure, Frank oversaw the transition of the organization to a publicly traded company and has managed operations with a focus on cross-company innovation, including his role as a key architect in creating and executing the focused business plan we rolled out in 2020. Along with the entire board of directors and leadership team, I appreciate Franks commitment to facilitate a smooth transition during this time.

Gaspar continued, Our search is focused on a CFO to lead the broad strategic planning efforts necessary to capitalize on the full potential of our hematopoietic stem cell gene therapy platform.We have a strong team in place to aid Orchards success in this next phase of growth and are well capitalized through the anticipated completion of several value-creating milestones.

Upcoming Milestones

In June 2021, Orchard announced several portfolio updates following recent regulatory interactions for the companys investigational programs in metachromatic leukodystrophy (MLD), Mucopolysaccharidosis type I Hurler syndrome (MPS-IH) and Wiskott-Aldrich syndrome (WAS).

Third Quarter 2021 Financial Results

Revenue from product sales of Strimvelis were $0.7 million for the third quarter of 2021 compared to $2.0 million in the same period in 2020, and cost of product sales were $0.2 million for the third quarter of 2021 compared to $0.7 million in the same period in 2020. Collaboration revenue was $0.5 million for the third quarter of 2021, resulting from the collaboration with Pharming Group N.V. entered into in July 2021. This revenue represents expected reimbursements for preclinical studies and a portion of the $17.5 million upfront consideration received by Orchard under the collaboration, which will be amortized over the expected duration of the agreement.

Research and development (R&D) expenses were $20.8 million for the third quarter of 2021, compared to $14.7 million in the same period in 2020. The increase was primarily due to higher manufacturing and process development costs for the companys neurometabolic programs and lower R&D tax credits as compared to the same period in 2020. R&D expenses include the costs of clinical trials and preclinical work on the companys portfolio of investigational gene therapies, as well as costs related to regulatory, manufacturing, license fees and development milestone payments under the companys agreements with third parties, and personnel costs to support these activities.

Selling, general and administrative (SG&A) expenses were $13.0 million for the third quarter of 2021, compared to $13.0 million in the same period in 2020. SG&A expenses are expected to increase in future periods as the company builds out its commercial infrastructure globally to support additional product launches following regulatory approvals.

Net loss was $36.4 million for the third quarter of 2021, compared to $20.3 million in the same period in 2020. The increase in net loss as compared to the prior year was primarily due to higher R&D expenses as well as the impact of foreign currency transaction gains and losses. The company had approximately 125.5 million ordinary shares outstanding as of September 30, 2021.

Cash, cash equivalents and investments as of September 30, 2021, were $254.1 million compared to $191.9 million as of December 31, 2020. The increase was primarily driven by net proceeds of $143.6 million from the February 2021 private placement and $17.5 million in upfront payments from the July 2021 collaboration with Pharming Group N.V., offset by cash used for operating activities and capital expenditures. The company expects that its cash, cash equivalents and investments as of September 30, 2021 will support its currently anticipated operating expenses and capital expenditure requirements into the first half of 2023. This cash runway excludes an additional $67 million that could become available under the companys credit facility and any non-dilutive capital received from potential future partnerships or priority review vouchers granted by the FDA following future U.S. approvals.

About Libmeldy / OTL-200

Libmeldy (atidarsagene autotemcel), also known as OTL-200, has been approved by the European Commission for the treatment of MLD in eligible early-onset patients characterized by biallelic mutations in the ARSA gene leading to a reduction of the ARSA enzymatic activity in children with i) late infantile or early juvenile forms, without clinical manifestations of the disease, or ii) the early juvenile form, with early clinical manifestations of the disease, who still have the ability to walk independently and before the onset of cognitive decline. Libmeldy is the first therapy approved for eligible patients with early-onset MLD.

The most common adverse reaction attributed to treatment with Libmeldy was the occurrence of anti-ARSA antibodies. In addition to the risks associated with the gene therapy, treatment with Libmeldy is preceded by other medical interventions, namely bone marrow harvest or peripheral blood mobilization and apheresis, followed by myeloablative conditioning, which carry their own risks. During the clinical studies, the safety profiles of these interventions were consistent with their known safety and tolerability.

For more information about Libmeldy, please see the Summary of Product Characteristics (SmPC) available on the EMA website.

Libmeldy is approved in the European Union, UK, Iceland, Liechtenstein and Norway. OTL-200 is an investigational therapy in the US.

Libmeldy was developed in partnership with the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy.

About Orchard

At Orchard Therapeutics, our vision is to end the devastation caused by genetic and other severe diseases. We aim to do this by discovering, developing and commercializing new treatments that tap into the curative potential of hematopoietic stem cell (HSC) gene therapy. In this approach, a patients own blood stem cells are genetically modified outside of the body and then reinserted, with the goal of correcting the underlying cause of disease in a single treatment.

In 2018, the company acquired GSKs rare disease gene therapy portfolio, which originated from a pioneering collaboration between GSK and the San Raffaele Telethon Institute for Gene Therapy in Milan, Italy. Today, Orchard has a deep pipeline spanning pre-clinical, clinical and commercial stage HSC gene therapies designed to address serious diseases where the burden is immense for patients, families and society and current treatment options are limited or do not exist.

Orchard has its global headquarters inLondonandU.S. headquarters inBoston. For more information, please visitwww.orchard-tx.com, and follow us onTwitterandLinkedIn.

Availability of Other Information About Orchard

Investors and others should note that Orchard communicates with its investors and the public using the company website (www.orchard-tx.com), the investor relations website (ir.orchard-tx.com), and on social media (TwitterandLinkedIn), including but not limited to investor presentations and investor fact sheets,U.S. Securities and Exchange Commissionfilings, press releases, public conference calls and webcasts. The information that Orchard posts on these channels and websites could be deemed to be material information. As a result, Orchard encourages investors, the media, and others interested in Orchard to review the information that is posted on these channels, including the investor relations website, on a regular basis. This list of channels may be updated from time to time on Orchards investor relations website and may include additional social media channels. The contents of Orchards website or these channels, or any other website that may be accessed from its website or these channels, shall not be deemed incorporated by reference in any filing under the Securities Act of 1933.

Forward-Looking Statements

This press release contains certain forward-looking statements about Orchards strategy, future plans and prospects, which are made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. Forward-looking statements include express or implied statements relating to, among other things, Orchards business strategy and goals, including its plans and expectations for the commercialization of Libmeldy, the therapeutic potential of Libmeldy (OTL-200) and Orchards product candidates, including the product candidates referred to in this release, Orchards expectations regarding its ongoing preclinical and clinical trials, including the timing of enrollment for clinical trials and release of additional preclinical and clinical data, the likelihood that data from clinical trials will be positive and support further clinical development and regulatory approval of Orchard's product candidates, and Orchards financial condition and cash runway into the first half of 2023. These statements are neither promises nor guarantees and are subject to a variety of risks and uncertainties, many of which are beyond Orchards control, which could cause actual results to differ materially from those contemplated in these forward-looking statements. In particular, these risks and uncertainties include, without limitation: the risk that prior results, such as signals of safety, activity or durability of effect, observed from clinical trials of Libmeldy will not continue or be repeated in our ongoing or planned clinical trials of Libmeldy, will be insufficient to support regulatory submissions or marketing approval in the US or to maintain marketing approval in the EU, or that long-term adverse safety findings may be discovered; the risk that any one or more of Orchards product candidates, including the product candidates referred to in this release, will not be approved, successfully developed or commercialized; the risk of cessation or delay of any of Orchards ongoing or planned clinical trials; the risk that Orchard may not successfully recruit or enroll a sufficient number of patients for its clinical trials; the risk that prior results, such as signals of safety, activity or durability of effect, observed from preclinical studies or clinical trials will not be replicated or will not continue in ongoing or future studies or trials involving Orchards product candidates; the delay of any of Orchards regulatory submissions; the failure to obtain marketing approval from the applicable regulatory authorities for any of Orchards product candidates or the receipt of restricted marketing approvals; the inability or risk of delays in Orchards ability to commercialize its product candidates, if approved, or Libmeldy, including the risk that Orchard may not secure adequate pricing or reimbursement to support continued development or commercialization of Libmeldy; the risk that the market opportunity for Libmeldy, or any of Orchards product candidates, may be lower than estimated; and the severity of the impact of the COVID-19 pandemic on Orchards business, including on clinical development, its supply chain and commercial programs. Given these uncertainties, the reader is advised not to place any undue reliance on such forward-looking statements.

Other risks and uncertainties faced by Orchard include those identified under the heading "Risk Factors" in Orchards quarterly report on Form 10-Q for the quarter endedSeptember 30, 2021, as filed with theU.S. Securities and Exchange Commission(SEC), as well as subsequent filings and reports filed with theSEC. The forward-looking statements contained in this press release reflect Orchards views as of the date hereof, and Orchard does not assume and specifically disclaims any obligation to publicly update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as may be required by law.

Contacts

InvestorsRenee LeckDirector, Investor Relations+1 862-242-0764Renee.Leck@orchard-tx.com

MediaBenjamin NavonDirector, Corporate Communications+1 857-248-9454Benjamin.Navon@orchard-tx.com

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Orchard Therapeutics Reports Third Quarter 2021 Financial Results and Highlights Recent Business Updates - BioSpace

Recommendation and review posted by Bethany Smith

NEW YORK and BASEL, Switzerland, Nov. 4, 2021 /PRNewswire/ --Aruvant Sciences ("Aruvant"), a private company focused on developing gene therapies for rare diseases, announced that an abstract demonstrating the clinical benefit of the company's lead product candidate ARU-1801 has been published online and will be the subject of a poster presentation at the 63rd American Society of Hematology (ASH) Annual Meeting and Exposition. The meeting will take place in Atlanta, Georgia fromDecember 11 to 14, 2021.Punam Malik, M.D., Director of the Cincinnati Comprehensive Sickle Cell Center and Program Leader of the Hematology and Gene Therapy Program at the Cincinnati Children's Hospital Medical Center, will present the data at6:00 to 8:00 PM ESTonDecember 13, 2021.

"Clinical data from our ongoing MOMENTUM study has shown 100 percent resolution of vaso-oclusive events (VOE) in our recently treated SCD patients at 18 and 12 months of follow up," said Will Chou, MD, Aruvant chief executive officer. "In addition, we are excited to be sharing additional clinical data at ASH that demonstrates how the unique anti-sickling potency of ARU-1801 translates to these robust clinical outcomes."

Dr. Malik will present data from theongoing MOMENTUM study, an open label Phase 1/2 clinical trial examining ARU-1801 as a one-time potentially curative gene therapy for individuals with sickle cell disease (SCD). The MOMENTUM study examines ARU-1801, an autologous lentiviral cell therapy with a modified, highly potent gamma globin payload, in individuals with severe SCD. Unlike investigational gene therapies that require fully myeloablative conditioning, ARU-1801 is given with reduced intensity conditioning (RIC), which is a lower dose chemotherapy. ARU-1801 is designed to address the limitations of current curative allogeneic transplant options, such as low donor availability, the risk of graft-versus-host disease and toxicity from myeloablative chemotherapy. The data to be presented at ASH highlights clinically meaningfulreduction in participants' VOEs and the unique attributes that contribute to the potency of ARU-1801.

"The emerging clinical data shows that ARU-1801 holds promise for achieving durable responses in patients with severe SCD using only reduced intensity conditioninga key differentiator from other investigational gene therapy regimens," said Dr. Malik. "Given the advantage for patients, providers and payers a reduced conditioning regimen offers, ARU-1801 has the potential to be an important option for SCD patients seeking gene therapy, including those in low resource settings."

Abstract and Poster Presentation Information

Title: Safety and Efficacy of ARU-1801 in Patients with Sickle Cell Disease: Early Results from the Phase 1/2 MOMENTUM Study of a Modified Gamma Globin Gene Therapy and Reduced Intensity Conditioning

Publication Number: 3970Session Name: 801. Gene Therapies: Poster IIIDate:Monday, December 13, 2021Presentation Time:6:00 to 8:00 PM ESTLocation: Georgia World Congress Center, Hall B5 or online through the ASHwebsite.

About Aruvant SciencesAruvant Sciences, part of the Roivant family of companies, is a clinical-stage biopharmaceutical company focused on developing and commercializing gene therapies for the treatment of rare diseases. The company has a talentedteamwith extensive experience in the development, manufacturing and commercialization of gene therapy products. Aruvant has an activeresearchprogram with a lead product candidate, ARU-1801, in development for individuals suffering fromSCD. ARU-1801, an investigational lentiviral gene therapy, is being studied in aPhase 1/2 clinical trial,the MOMENTUM study, as a one-time potentially curative treatment for SCD. Preliminary clinical data demonstrate engraftment of ARU-1801 and amelioration of SCD is possible with one dose of reduced intensity chemotherapy. The company's second product candidate, ARU-2801, is in development to cure hypophosphatasia, a devastating, ultra-orphan disorder that affects multiple organ systems and leads to high morbidity and mortality when not treated. Data from pre-clinical studies with ARU-2801 shows durable improvement in disease biomarkers and increased survival. For more information on the ongoing ARU-1801 clinical study, please visit http://www.momentumtrials.com,and for more on the company, pleasevisitwww.aruvant.com. Follow Aruvant on Facebook, Twitter @AruvantSciencesand on Instagram @Aruvant_Sciences.

SOURCE Aruvant Sciences

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Recommendation and review posted by Bethany Smith

BRISBANE, Calif.--(BUSINESS WIRE)-- Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, today reported third quarter financial results and provided business and clinical highlights.

We are delighted to share clinical data and business updates across several programs demonstrating that Sangamo has three important assets progressing toward late-stage development. Our gene therapy portfolio is advancing with accumulating safety and efficacy data in our Fabry and hemophilia A programs, and preliminary proof-of-concept data demonstrate the clinical potential of our zinc finger genome engineering technology in sickle cell disease. These data readouts show the progression of our first-generation genomic medicine pipeline and potentially pave the way for new treatments. Our next generation programs focus on genome regulation and allogeneic CAR-Treg cell therapy, where we have a robust preclinical pipeline in neurological and autoimmune diseases. We are energized by this momentum and look forward to continued execution of our corporate strategy, said Sandy Macrae, Chief Executive Officer of Sangamo.

Recent Clinical and Business Highlights

Fabry Disease First four patients dosed exhibited above normal -Gal A activity; Phase 3 planning initiated

Sickle Cell Disease Preliminary-proof-of-concept data will be presented at ASH as clinical program advances

Hemophilia A Four patients at highest dose experienced mean FVIII activity of 30.9% at week 104

Renal Transplant First patient enrolled, expect two patients to be dosed by mid-2022

Research, Manufacturing, and Corporate Updates

Third Quarter 2021 Financial Results

Consolidated net loss attributable to Sangamo for the third quarter ended September 30, 2021 was $47.7 million, or $0.33 per share, compared to a net loss attributable to Sangamo of $1.6 million, or $0.01 per share, for the same period in 2020.

Revenues

Revenues for the third quarter ended September 30, 2021, were $28.6 million, compared to $57.8 million for the same period in 2020, a decrease of $29.2 million.

The reduction in revenue was primarily due to a $39.3 million decrease related to our giroctocogene fitelparvovec and C9ORF72 collaboration agreements with Pfizer, resulting from the completion of our activities in 2020, and a $2.3 million decrease related to our collaboration agreement with Sanofi. These decreases were partially offset by higher revenues of $11.5 million and $1.3 million related to our collaboration agreements with Novartis and Biogen, respectively.

GAAP and Non-GAAP operating expenses

2021

2020

2021

2020

$

62.5

$

45.3

$

179.0

$

128.3

14.5

16.2

47.1

50.2

77.0

61.5

226.1

178.5

(7.9

)

(6.7

)

(24.9

)

(19.1

)

$

69.1

$

54.8

$

201.2

$

159.4

Total operating expenses on a GAAP basis for the third quarter ended September 30, 2021 were $77.0 million compared to $61.5 million for the same period in 2020. Non-GAAP operating expenses, which exclude stock-based compensation expense, for the third quarter ended September 30, 2021 were $69.1 million compared to $54.8 million for the same period in 2020.

The increase in total operating expenses on a GAAP basis was primarily driven by our higher clinical and manufacturing supply expenses along with our increased headcount to support the advancement of our clinical trials and our ongoing collaborations.

Cash, cash equivalents and marketable securities

Cash, cash equivalents and marketable securities as of September 30, 2021 were $519.0 million compared to $692.0 million as of December 31, 2020.

Revised Financial Guidance for 2021

We are revising our full-year operating expense guidance initially provided on February 24, 2021 and reiterated most recently on August 5, 2021 as follows:

$285 to $305

$300 to $310

$255 to $275*

$265 to $275**

Conference Call

Sangamo will host a conference call today, November 4, 2021, at 9:15 a.m. Eastern Time, which will be open to the public. The call and live Q&A will be webcast.

The conference call dial-in numbers are (877) 377-7553 for domestic callers and (678) 894-3968 for international callers. The conference ID number for the call is 5178059. Participants may access the live webcast via a link on the Sangamo Therapeutics website in the Investors and Media section under Events and Presentations. Call replay will be available for one week following the conference call. The conference call replay numbers for domestic and international callers are (855) 859-2056 and (404) 537-3406, respectively. The conference ID number for the replay is 5178059.

About Sangamo Therapeutics

Sangamo Therapeutics is a clinical-stage biopharmaceutical company with a robust genomic medicines pipeline. Using ground-breaking science, including our proprietary zinc finger genome engineering technology and manufacturing expertise, Sangamo aims to create new genomic medicines for patients suffering from diseases for which existing treatment options are inadequate or currently dont exist. For more information about Sangamo, visit http://www.sangamo.com.

Forward-Looking Statements

This press release contains forward-looking statements regarding our current expectations. These forward-looking statements include, without limitation, statements relating to the therapeutic and commercial potential of our product candidates, the anticipated plans and timelines of Sangamo and our collaborators for screening, enrolling and dosing patients in and conducting our ongoing and potential future clinical trials and presenting clinical data from our clinical trials, the anticipated advancement of our product candidates to late-stage development including potential future Phase 3 trials, anticipated implementation of a protocol amendment for the Phase 3 AFFINE clinical trial of giroctocogene fitelparvovec and the resumption of the dosing of additional patients in the trial; our revised 2021 financial guidance related to GAAP and non-GAAP total operating expenses and stock-based compensation; our continued execution of our corporate strategy; the anticipated completion of our in-house cell therapy manufacturing facility in Valbonne, France; and other statements that are not historical fact. These statements are not guarantees of future performance and are subject to certain risks and uncertainties that are difficult to predict. Factors that could cause actual results to differ include, but are not limited to, risks and uncertainties related to the effects of the evolving COVID-19 pandemic and the impacts of the pandemic on the global business environment, healthcare systems and business and operations of Sangamo and our collaborators, including the initiation and operation of clinical trials; the research and development process, including the enrollment, operation and results of clinical trials and the presentation of clinical data; the uncertain timing and unpredictable nature of clinical trials and clinical trial results, including the risk that any protocol amendment for the Phase 3 AFFINE trial of giroctocogene fitelparvovec may not be accepted by the relevant review bodies in a timely manner, or at all, or that the FDA may not lift its clinical hold on the Phase 3 AFFINE trial in a timely manner, or at all, each of which could further delay or preclude further patient dosing in the trial as well as the risks that therapeutic effects observed in clinical trial results will not be durable in patients and that final clinical trial data will not validate the safety and efficacy of our product candidates; reliance on results of early clinical trials, which results are not necessarily predictive of future clinical trial results; our limited experience manufacturing biopharmaceutical products, including the risks that we may be unable to maintain compliant manufacturing facilities, build additional facilities and manufacture our product candidates as intended; and our ability to achieve expected future financial performance.

There can be no assurance that we and our collaborators will be able to develop commercially viable products. Actual results may differ materially from those projected in these forward-looking statements due to the risks and uncertainties described above and other risks and uncertainties that exist in the operations and business environments of Sangamo and our collaborators. These risks and uncertainties are described more fully in our Securities and Exchange Commission filings and reports, including in our Annual Report on Form 10-K for the year ended December 31, 2020 as supplemented by our Quarterly Report on Form 10-Q for the quarter ended September 30, 2021. Forward-looking statements contained in this announcement are made as of this date, and we undertake no duty to update such information except as required under applicable law.

Non-GAAP Financial Measure

To supplement our financial results and guidance presented in accordance with GAAP, we present non-GAAP total operating expenses, which exclude stock-based compensation expense from GAAP total operating expenses. We believe that this non-GAAP financial measure, when considered together with our financial information prepared in accordance with GAAP, can enhance investors and analysts ability to meaningfully compare our results from period to period and to our forward-looking guidance, and to identify operating trends in our business. We have excluded stock-based compensation expense because it is a non-cash expense that may vary significantly from period to period as a result of changes not directly or immediately related to the operational performance for the periods presented. This non-GAAP financial measure is in addition to, not a substitute for, or superior to, measures of financial performance prepared in accordance with GAAP. We encourage investors to carefully consider our results under GAAP, as well as our supplemental non-GAAP financial information, to more fully understand our business.

2021

2020

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Recommendation and review posted by Bethany Smith