[Tweaking an embryos DNA can] help save someone who is already alive.

Take the case of Jessica and Keith, a couple in the Bay Area with a 2 1/2-year-old daughter with Fanconi anemia, a genetic disease that leads to the failure of bone marrow to produce red and white blood cells and carries an increased risk of a number of cancers. The best treatment is a stem cell transplant from a sibling, and Jessica and Keith, who asked that their last name not be used, are now in the process of trying to have another child through IVF who can serve as a donor whats known as a savior sibling.

But making an embryo thats both healthy and a suitable donor match for the older sibling is an exercise in long odds. Its theoretically possible that altering an embryos DNA with the genome-editor CRISPR could improve the process.

He and Jessica understand its too soon to use CRISPR in such cases. The technology is not advanced or precise enough yet and might never be.

But its another example of the ways in which genome-editing could help patients where other reproductive technologies cannot.

Read full, original post: Could editing the DNA of embryos with CRISPR help save people who are already alive?

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CRISPR could save the lives of sick children by tweaking the embryos of their siblings - Genetic Literacy Project

Recommendation and review posted by Bethany Smith

Integration of CRISPR-case9 technology to accelerate the discovery of innovative antibiotics

DEINOVE (Euronext Growth Paris: ALDEI), a French biotechnology company that relies on a radical innovation approach to develop innovative antibiotics and bio-sourced active ingredients for cosmetics and nutrition, announces that it has expanded its technological platform with an advanced genetic tool, the CRISPR-cas9 system, to enhance its ability to optimize various microorganisms.

In the last few years, DEINOVE has set up a high throughput genetic engineering platform specifically dedicated to rare microorganisms and thus demonstrated its ability to adapt genetic tools to poorly described organisms. Thus, the exploitation of Deinococci as microbial plants has allowed the large-scale production of pure high value-added compounds such as carotenoids. It should be recalled that Deinococci are extremophilic microorganisms whose biological and molecular specificities have so far been little studied and therefore unexploited.

After developing a platform dedicated to the identification of novel antibiotic structures produced by rare bacteria (AGIR Program), DEINOVE strengthens its expertise in genetic engineering with the integration of a cutting-edge tool, the CRISPR-cas9 technology, known as molecular scissors, which has revolutionized genetic engineering in recent years.

The objective for DEINOVE is to be able to directly manipulate the strains producing antimicrobial activities or to transfer these activities into phylogenetically close frames. This has been successfully achieved by the Company which has made the Streptomyces chassis an effective producer of a pharmaceutical intermediate initially produced by Microbacterium arobescens (proof of concept DNB101/102).

Genome editing occurs at two levels. First, highlights the cluster of genes at the origin of the antibiotic activity of interest. To optimize the spectrum of activity and eliminate any potential cytotoxicity, the structure of a natural molecule can then be modified by directly, finely and precisely editing the genes responsible for this activity.

This technology opens up many opportunities in the identification and optimized production of new antibiotic structures.

"Our expertise in the genetic engineering of a variety of microorganisms, unusual for some, is unique, and the integration of CRISPR-cas9 extends the possibilities of our platform," says Georges GAUDRIAULT, Scientific Director of DEINOVE. "We continue to structure the various technological bricks of the AGIR platform to be able to drastically accelerate the identification and optimization of new antibiotic structures. This technology is an additional asset in our race against the clock in the face of rising antimicrobial resistance."

ABOUT DEINOVE

DEINOVE is a French biotechnology company, a leader in disruptive innovation, which aims to help meet the challenges of antibiotic resistance and the transition to a sustainable production model for the cosmetics and nutrition industries.

DEINOVE has developed a unique and comprehensive expertise in the field of rare bacteria that it can decipher, culture, and optimize to disclose unsuspected possibilities and induce them to produce biobased molecules with activities of interest on an industrial scale. To do so, DEINOVE has been building and documenting since its creation an unparalleled biodiversity bank that it exploits thanks to a unique technological platform in Europe.

DEINOVE is organized around two areas of expertise:

Within the Euromedecine science park located in Montpellier, DEINOVE employs 60 employees, mainly researchers, engineers, and technicians, and has filed more than 350 patent applications internationally. The Company has been listed on EURONEXT GROWTH since April 2010.

CONTACTS

See the article here:
Integration of CRISPR-case9 technology to accelerate the discovery of innovative antibiotics - GlobeNewswire

Recommendation and review posted by Bethany Smith

BODY LANGUAGE

Cutting-edge medical advancements are changing the way we think about having children. From gene therapy and pre-implantation genetic testing to women carrying children in transplanted uteruses, these medical advancements each come with an array of issues.

Perhaps the most prominent advancement featuring in the debate is that of gene-editing using CRISPR-Cas9 technology.Gene editing has already been used to create tomatoes that can sit in the pantry and ripen slowly for months without rotting.

It has been used to modify mosquitos so that they are unable to transmit malaria, and create ultra-muscular dogs to be used by law enforcement authorities. Gene editing has even allowed us to create cows without horns.

The most controversial application for gene editing which has been considered, is the genetic modification of the human species. Jennifer Doudna, the American biochemist who is credited for developing the CRISPR-Cas9 system, has been quoted as saying: The power to control our species genetic future is awesome and terrifying. Deciding how to handle it may be the biggest challenge we have ever faced.

Beverley Townsend and Donrich Thaldar(Gene editing is risky, but worth it, Mail & Guardian, September 13), suggest that the blanket moratorium called for by the international community blocks scientific progress and, with it, the opportunity to act responsibly.

They offer two specific examples of gene editing of human embryos: that of Chinese scientist He Jiankuis covert gene editing of twin girls in 2018, and the planned gene editing of embryos by Russian molecular biologist Denis Rebrikov.

Townsend and Thaldar provide an explanation of these two examples, but after brief mention of the gene-editing of the twin girls, who were subsequently born alive and are reportedly healthy, they shift their focus to Rebrikovs plans to remove the genetic sequence for inheritable deafness from embryos created using the gametes of a deaf couple.

Rebrikov is not the best example of the considerations in the debate, because the proposed gene editing itself is problematic. The Chinese scientist planned to use gene editing to make the children born resistant to HIV infection. This was clearly a therapeutic aim. But are Rebrikovs plans to remove inheritable deafness from embryos therapeutic? It is arguable whether deafness is a disease or a disability. In fact, a whole section of society does not believe that deafness is a disability, and that such proposed treatment amounts to discrimination against the deaf population.

The implications of what He has done is crucial to the discussion. Rebrikovs expression of his intention provides us with the opportunity to identify and debate issues regarding gene editing, and the control which we are prepared to allow ourselves to exercise over our genetic heritage.

But, the Chinese incident clearly demonstrates exactly why a moratorium on the gene editing of human embryos must be the first words in the conversation.

He Jiankui used CRISPR-Cas9 to delete part the CCR5 gene that allows HIV to enter cells. The world had a mixed reaction to the sudden announcement of the birth of the children, and some hailed it as the medical miracle that signalled the end of HIV. But, there were many who did not reciprocate this sentiment.

For many doctors and scientists, He had acted in haste without any consideration of what was safe or ethical. At the outset, the ethical implications were clear: he had fated these children to be prized cattle in a society already ravaged with the HIV epidemic.

The news that broke in June this year was more devastating, and proves that we must adopt a cautious, conservative approach to gene editing.

According to a study published in Nature Medicine, He may have inadvertently shortened the twins life expectancy. The study showed that people with two disabled copies of the CCR5 gene are 21% more likely to die before the age of 76 than are people with at least one copy of the gene. The reason for the discrepancy is not yet known.

There are useful measures that may help us to determine whether particular uses of gene editing are justified. We can ask whether the proposed gene editing amounts to enhancement of our biological systems, because therapeutic interventions are always ethically easier to justify over enhancements which offer no therapeutic benefit apart from expressing what we want to see in our future children. Consideration of what is in the best interests of the future child is also important.

The best interests of the child principle is firmly entrenched in law and asks us to consider what action would serve a childs interests best. If the proposed gene editing would place a child at a disadvantage, it would not be appropriate to proceed.

In 2008, a deaf British couple requested permission to genetically test their embryos to ensure that the child was deaf. The couple stated that being deaf is not about being disabled, or medically incomplete its about being part of a linguistic minority. Were proud, not of the medical aspect of deafness, but of the language we use and the community we live in.

A public outcry followed because many people viewed the intention to ensure that a child was hearing-impaired was against the best interests of the child.

The Human Fertilisation and Embryology Authority, which oversees the fertility industry in the United Kingdom, refused to permit the selection.

We should also consider whether the proposed gene editing may cause harm to the child which may be born. There is also the bioethical norm of beneficence, which asks us to consider whether we are doing good by our actions.

Townsend and Thaldar correctly state that we are not aware of the risks of gene editing on human embryos, but they conclude that this cannot be a reason to prohibit the treatment.

They correctly identify that there are risks with any therapeutic procedure. But we subject ourselves to therapeutic procedures after at least some of the inherent risks have been identified and measured. We would not do so if there were no studies regarding the efficacy and safety of such procedures.

This is not a risk we would take for ourselves, let alone the earliest and most vulnerable forms of human life.

A fundamental question is: Who gets to decide these issues? The public and legal and scientific communities need to be involved, and this cannot happen overnight.

Moratoria provide us with the opportunity to pause, debate and conduct critical research, which will allow us to safely navigate the course towards clinical treatment. This is responsible scientific progress.

There may be grave consequences of gene editing humans that we do not yet know. When we exercise control over genes, we are determining what people of the future will be like. This cannot be taken lightly, and we cannot allow cowboy scientists to proceed with gene editing of human embryos until the risks are better understood.

The published study comes too late for the two little girls. Perhaps they will live long, healthy lives. But, there is now evidence against that possibility. Gene editing is definitely worth it, but we must proceed with caution.

Sheetal Soni is an academic at the School of Law at the University of Kwa-Zulu-Natal

See original here:
Yes, edit our genes but do it cautiously - Mail and Guardian

Recommendation and review posted by Bethany Smith

We are delighted to be recognized by DTRA for the advanced state of our technology and development efforts. This support will further our mission to harness the power of CRISPR and synthetic biology to develop diagnostic tools that enable effective decision making in any environment at any time, said Rahul K. Dhanda, Sherlocks co-founder, president and CEO. This funding will enable our team to continue to make important progress advancing our platform, while also addressing an urgent need to rapidly identify pathogenic agents and other biothreats.

The multiyear grant will accelerate the companys development of infectious disease diagnostic tests for decentralized settings, such as the battlefield. Further, the support will help the company refine its deep learning and bioinformatics tools for rapid definition and deployment of molecular diagnostic tests.

When we published the call for a new class of rapid diagnostics, we were optimistic that we would identify both a technology and an organization that could deliver a significant leap forward in testing for biothreat and battlefield settings through initiatives driven by the Defense Innovation Unit, said Charles Hong, a science and technology manager for the Detection and Diagnostics Division at DTRA. We are pleased to support Sherlock in its efforts to create novel CRISPR- and synthetic biology-based diagnostic tests that will be sensitive, fast and easily deployable in any setting.

The Defense Innovation Unit identifies commercial industry solutions to support the U.S. military, and through this process, the organization facilitated finding a new class of rapid diagnostic solutions on behalf of DTRA.

This funding provides important validation for the versatility of Sherlocks platform, and our ability to develop simple, impactful diagnostic tools that can be applied in field-based settings, said William Blake, Ph.D., Sherlocks chief technology officer. We are grateful to DTRA for this award and look forward to working with the agency in support of their mission to enable rapid responses to potential threats and crises.

About Sherlock Biosciences

Sherlock Biosciences is dedicated to making molecular diagnostics better, faster and more affordable through Engineering Biology platforms. The company is developing applications of SHERLOCK, a CRISPR-based method to detect and quantify specific genetic sequences, and INSPECTR, a Synthetic Biology-based molecular diagnostics platform that is instrument free. SHERLOCK and INSPECTR can be used in virtually any setting without complex instrumentation, opening up a wide range of potential applications in areas including precision oncology, infection identification, food safety, at-home tests, and disease detection in the field. For more information visit Sherlock.bio.

About DTRA

The Defense Threat Reduction Agency (DTRA), an agency within the United States Department of Defense (DoD), is the official Combat Support Agency for countering weapons of mass destruction (chemical, biological, radiological, nuclear, and high explosives). The Defense Threat Reduction Agency enables DoD, the U.S. government, and international partners to counter and deter weapons of mass destruction and improvised threat networks. Under the auspice of the Chemical and Biological Defense Program, DTRA has the responsibility to manage and integrate the DoD chemical and biological defense science and technology programs. DTRAs continued effort to enhance the combat support mission also advances public health services by developing innovative technologies that protect against biological threats. For more information, visit http://www.dtra.mil.

About Defense Innovation Unit

DIU strengthens our national security by increasing the adoption of commercial technology throughout the military and growing the national security innovation base. Learn more about DIU at http://www.diu.mil.

Continued here:
Sherlock Biosciences Awarded Contract from US Defense Threat Reduction Agency to Support the Development of Ultra-Fast, Ultra-Sensitive Diagnostics -...

Recommendation and review posted by Bethany Smith

CAMBRIDGE, Mass., Sept. 26, 2019 (GLOBE NEWSWIRE) Intellia Therapeutics, Inc. (NASDAQ: NTLA) announced today that an arbitration panel issued an Interim Award confirming that certain structural and chemical guide RNA modification technologies were exclusively licensed to Intellia by Caribou Biosciences under the parties July 2014 agreement. This Interim Award is subject to additional negotiations between the parties and potentially further arbitration proceedings before it becomes final.

After concluding that the chemical modification technology was within the scope of Intellias exclusive license from Caribou, the arbitration panel noted that its decision could delay or otherwise adversely impact the continued development of these modified guide RNAs as human therapeutics. It also noted that Intellia currently is not using these modified guide RNAs in any of its active programs. For this reason, the panel stated it will declare that Caribou has leaseback rights, which it described as exclusive, perpetual and worldwide, to the chemically modified guide RNAs. This leaseback only applies to the chemically modified guides and will be subject to terms, including Caribous future payments to Intellia, to be negotiated by the parties or, if unsuccessful, to additional arbitration proceedings.

The leaseback will not include the structural guide modifications intellectual property at issue in the arbitration, any other intellectual property exclusively licensed or sublicensed by Caribou to Intellia under the Caribou license (including but not limited to the foundational CRISPR/Cas9 intellectual property co-owned by University of California, University of Vienna and Dr. Emmanuelle Charpentier), or any other Intellia intellectual property.

Upon, and subject to the terms of, a final award, which will follow negotiations between the parties and potential further legal proceedings, Caribou would be able to use the modified guide RNAs at issue for human therapeutics. Intellia or Caribou may challenge the arbitration panels decisions under limited circumstances.

The Interim Award has no impact on any of Intellias current programs. Additionally, the Interim Award has no effect on any other Intellia rights or Caribou obligations under their agreement.

Background on Intellias License from Caribou BiosciencesIn July 2014, Intellia Therapeutics, Inc. licensed from Caribou Biosciences, Inc. certain intellectual property. On October 17, 2018, the Company initiated an arbitration proceeding with the Judicial Arbitration and Mediation Services (JAMS) against Caribou asserting that Caribouis violating the terms and conditions of theCaribou license, as well as other contractual and legal rights, by using and seeking to license to third parties technology covered by two patent families (described in, for instance, PCT No. PCT/US2016/015145 and PCT No. PCT/US2016/064860, and related patents and applications) relating to specific structural or chemical modifications of guide RNAs.

AboutIntellia TherapeuticsIntellia Therapeuticsis a leading genome editing company focused on developing curative therapeutics using the CRISPR/Cas9 system. Intellia believes the CRISPR/Cas9 technology has the potential to transform medicine by permanently editing disease-associated genes in the human body with a single treatment course, and through improved cell therapies that can treat cancer and immunological diseases, or can replace patients diseased cells. The combination of deep scientific, technical and clinical development experience, along with its leading intellectual property portfolio, puts Intellia in a unique position to unlock broad therapeutic applications of the CRISPR/Cas9 technology and create a new class of therapeutic products. Learn more aboutIntellia Therapeuticsand CRISPR/Cas9 atintelliatx.comand follow us on Twitter @intelliatweets.

Forward-Looking StatementsThis press release contains forward-looking statements ofIntellia Therapeutics, Inc.(Intellia or the Company) within the meaning of the Private Securities Litigation Reform Act of 1995. These forward-looking statements include, but are not limited to, express or implied statements regarding Intellias beliefs and expectations regarding: its ability to advance and expand its CRISPR/Cas9 technology to develop human therapeutic products, as well as maintain, protect and expand its related intellectual property portfolio; its plans to negotiate, and ability to agree to, a leaseback with Caribou, including the scope of such arrangement and the timing and amount of payment under any such arrangement; the potential to initiate additional arbitration or legal proceedings if negotiations are not successful; the potential implications and impact the Interim Award may have on Intellias current programs or on any other intellectual property rights and changes in any of the foregoing in connection with the issuance of a final award; its ability to develop otherin vivoorex vivocell therapeutics of all types; and the impact of any of the foregoing on its collaborations and licensing arrangements.

Any forward-looking statements in this press release are based on managements current expectations and beliefs of future events, and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by such forward-looking statements. These risks and uncertainties include, but are not limited to: risks related to Intellias ability to protect and maintain our intellectual property position, including as a result of the Interim Award or the finalization of any award; risks related to Intellias relationship with third parties, including our licensors; or risks related to our ability, or the ability of our licensors, to protect and maintain their intellectual property position. For a discussion of these and other risks and uncertainties, and other important factors, any of which could cause Intellias actual results to differ from those contained in the forward-looking statements, see the section entitled Risk Factors in Intellias most recent annual report on Form 10-K as well as discussions of potential risks, uncertainties, and other important factors in Intellias other filings with theSecurities and Exchange Commission. All information in this press release is as of the date of the release, andIntellia undertakes no duty to update this information unless required by law.

Intellia Contacts:Investors:Glenn GoddardExecutive Vice President, Chief Financial Officer+1 857-706-1056glenn.goddard@intelliatx.com

Media:Jennifer Mound SmoterSenior Vice President, External Affairs & Communications+1 857-706-1071jenn.smoter@intelliatx.com

Read more:
Arbitration Decision Affirms Intellia Therapeutics Interpretation of Licensing Agreement with Caribou Biosciences on the CRISPR/Cas9 Technology -...

Recommendation and review posted by Bethany Smith

A Recent Research By MarketResearch.Biz On CRISPR and Cas Genes Market Provides A Professional, In-depth, Comprehensive, and Well-designed Insights that can help you to make better business decisions

The globalCRISPR and Cas Genes Marketis studied and analyzed with the help of a complete primary and secondary market research. The report provides broad industry data on the CRISPR and Cas Genes market, such as size, forecasted growth, profitability, key players, market share and market trends will give you a high-level overview of CRISPR and Cas Genes market opportunities. This report studies the global market size of CRISPR and Cas Genes, especially focuses on the key regions like North America, Europe and Asia-Pacific, South America, Middle East, and Africa

The market size section gives the CRISPR and Cas Genes market revenues, covering historic growth of the market as well as forecasting the future. Moreover, the report covers a host of company profiles, who are making a mark in the industry or have the potential to do so. The profiling of the players includes their market size, key product launches, information regarding the strategies they employ, and others.

The Leading key players covered in this study:Addgene Inc, AstraZeneca Plc., Bio-Rad Laboratories Inc, Caribou Biosciences Inc, Cellectis S.A., Cibus Global Ltd, CRISPR Therapeutics AG, Editas Medicine Inc, eGenesis Bio, GE Healthcare, GenScript Corporation

To Obtain All-Inclusive Information On Forecast Analysis Of GlobalCRISPR and Cas GenesMarket, Request A Pdf Report Herehttps://marketresearch.biz/report/crispr-and-cas-genes-market/request-sample

WorldwideCRISPR and Cas Genes Market: Market Segmentation

Segmentation on the basis of product:

Vector-based CasDNA-free CasSegmentation on the basis of application:

Genome EngineeringDisease ModelsFunctional GenomicsKnockdown/ActivationSegmentation on the basis of end user:

Biotechnology & Pharmaceutical CompaniesAcademic & Government Research InstitutesContract Research Organizations

In the end, The report also gives complete information regarding the research methodology of the CRISPR and Cas Genes market.

High level Business Questions Answered and Covered in this Report: Heres a checklist

What is the market size of the CRISPR and Cas Genes market at the global level?

Which is the preferred age group for targeting CRISPR and Cas Genes for manufacturers?

What are the key factors driving, growth of the market?

What is the impact of the regulations on the growth of the CRISPR and Cas Genes market?

Which is the leading country and region for the growth of the market?

What is the anticipated growth rate of the major regions during the forecast period?

How are the emerging markets for CRISPR and Cas Genes expected to perform in the coming years?

Who are the major players operating in the global CRISPR and Cas Genes market? What is the current market position of the players? Who are the emerging players?

Who are the major distributors, traders, and dealers operating in the CRISPR and Cas Genes market?

For More Actionable Insights Into The Competitive Landscape Of Global Market, Get A Customized Report Herehttps://marketresearch.biz/report/crispr-and-cas-genes-market/#inquiry

Research Methodology:

The report has been consolidated using three research methodologies. The first step centers around exhaustive primary and secondary researches, which includes an extensive collection of information on the Global CRISPR and Cas Genes Market and the parent and peer market.

The next step involves validating the market size, estimations, findings, and assumptions with further accurate information from industry experts. The report obtains a complete estimation of the market size with the help of bottom-up and top-down approaches. Finally, the report obtains the market estimation of all the segments and sub-segments using data triangulation and market breakup procedures.

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Global CRISPR and Cas Genes Market 2019 | Complete Research Study on the Current State of the Global Market with a Focus on the Regional Market - Biz...

Recommendation and review posted by Bethany Smith

The human body is a wonderfully and mind-numbingly complex machine, with any new therapy or medication kickstarting thousands of chain reactions barely perceptible to patients. The relatively-few effects that do matter can be deadly. Prescription drug-related deaths cost the healthcare system and grieving families more than $100 billion annually. Fortunately, cutting-edge consumer genetic kits can sound the alarm on potential problems that could arise if a patient takes a certain drug or drug of a certain class. But the Food and Drug Administration (FDA) never lets a good regulatory opportunity go to waste. The agency is determined to keep key prescription information out of the hands of patients and block some genetic tests altogether pending an onerous paperwork process. The FDAs war on genetic testing will harm patients and make it harder for millions of Americans to get the lifesaving care they need.

The next generation of medications holds significant promise for patients suffering from illnesses ranging from depression to malaria to bladder cancer. But, with this potential, patients must deal with the endless frustration of their bodies not responding properly to newly-available treatments. This is a particularly pressing problem in the world of anti-depressants where patients are asked to go through an agonizing trial-and-error process with different medications. Genetic testing companies such as Color Genomics and 23andMe have a solution for this and received FDA authorization in 2018 to add a depression component to their gene test results (available online to participating consumers).

For the first time, consumers can find out cheaply and quickly whether they have the gene variants typically responsive to anti-depressants. Patients can in turn easily pass this information along to their medical providers, who can prescribe accordingly. This genetic information revolution is trumpeted by scientific bodies such as the Association for Molecular Pathology, which recommends that providers be made aware of any information regarding the tests interpretation[including] A generalized statement to alert healthcare providers when alternate dosage or drug treatment may be considered based on the results.

But just as the FDA giveth, the agency threatens to taketh away. The first troubling sign came in October 2018, when the agency warned consumers and physicians against using these tests to determine whether certain medications should be embraced/avoided. After muddying the waters, the agency began to move against smaller testing companies guilty of the egregious sin of not consulting with the FDA. In April 2019, the agency sent a strictly-worded warning letter to Inova Genomics for, illegally marketing certain genetic tests that have not been reviewed by the FDA for safety and effectiveness.

In the perfect world of monolithic Washington bureaucrats, all companies offering innovative scientific services would submit thousands of oft-redundant pages of research for FDA review at a cost of hundreds of thousands of dollars for each small addition. In reality, smaller companies simply cannot keep pace with these regulatory requirements.

And if consumer genetic testing becomes the sole domain of a few large companies, the quality of testing and incentive to improve and update results will suffer. The FDAs logic only works assuming that the agency is better at gauging efficacy than prescribers and scientific bodies. But if the FDAs sorry track record with vaping products and nutritional foods is any indicator, the agency has had more than its fair share of misfires.

Rather than going down the same, tired road of restricting lifesaving innovations, the FDA should greenlight genetic testing and allow the market to develop. Consumers deserve access to inexpensive tests that could help them and their providers navigate through the tricky world of difficult-to-pronounce medications with scary side effects. The FDA could save thousands of lives and billions in healthcare costs by taking a step back and enabling patients to take charge of their own medical care.

See the original post here:
FDA Must Allow, Not Thwart, Genetic Testing Revolution | Ross Marchand - The Beacon

Recommendation and review posted by Bethany Smith

Israeli artificial intelligence (AI) solutions company RSIP Vision has partnered with BioView, a cell imaging and analysis solutions provider, to use artificial intelligence (AI) for classifying chromosomes for accurate genetic testing.

Chromosome classification for genetic testing, known as karyotype classification, involves pairing of chromosomes to identify any irregularities.

The procedure is often performed manually by cytologists. However, the manual approach is expensive and time-consuming.

The AI solution is expected to reduce time, as well as the expense associated with genetic testing, providing a significant improvement in results.

RSIP Vision CEO Ron Soferman said: Machine learning provides the unique capability to both segment and straighten out chromosomes so that the results that the patient receives are as accurate as possible.

When patients are undergoing genetic testing, it is often a sensitive time for them they are testing for various conditions that could potentially affect their lives forever. Reducing the time for patients to receive the results of genetic testing is a step in making this process easier and smoother, providing patients with the correct answers, faster.

During karyotype classification, cytologists analyse chromosome size, shape and number, as well as abnormal locations and pieces. The information indicates abnormal growth development or body functioning.

Machine learning boosts the genetic testing process through the capture of several data sets for the training phase.

RSIP Vision and BioView leveraged a deep learning technique trained on extensive datasets to facilitate precise data correlations for fast identification of any abnormalities.

BioView deployed the AI solution in Duet Image and Analysis systems at hospitals across the US and Europe. The solution led to increased testing throughput, as well as more accurate results when compared to other solutions, according to the companys customers.

In May, RSIP Vision launched an AI solution to match patients undergoing knee replacement surgery with the best possible implants.

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RSIP Vision and BioView to use AI for accurate genetic testing - Medical Device Network

Recommendation and review posted by Bethany Smith

(Fargo, ND) -- Gene testing is benefiting more women than ever by allowing them to dive deeper into their families history with breast and ovarian cancer.

"Do I wish 10 year ago I would've done this testing? Absolutely."

This is what two time cancer survivor and Sanford Roger Maris Cancer Center patient, Sandy Dunn, had to say about the genetic testing.

"I was diagnosed with breast cancer in 2008. I was 44 years old and then I had a recurrence in 2010," says Sandy.

During this time, her oldest daughter was diagnosed with breast cancer, just two weeks after her 34th birthday.

"They knocked her down pretty hard. She's pretty weak. It's very hard to see,um, she still has that beautiful smile though. I'm sorry. This has been tough. It's the hardest thing I've ever gone through in my life, but we're going to survive this, too."

After her daughter's diagnoses, Sandy took her and her youngest daughter to get genetic testing for breast cancer.

This test is a simple blood draw, but doctors are able to see if there is a gene that is increasing a risk for cancer, like the BRCA Gene.

"They're the ones that we know are associated with breast and ovarian cancer and then also prostate cancer in men," says Genetic Counselor Meghann Reardon.

This type of gene testing also shows doctors if these types of cancers are hereditary.

Reardon explains, "so, if a person test positive, we know that all their children - boys and girls - are at a 50% risk to have inherited that as well."

Knowing that information, Sandy wishes she would've taken the test sooner.

"As we started digging into this, I learned that there was other women in our history that had breast cancer and some of them had not survived. This was not information that we were discussing in our family. So this test brought up these topics of conversation," says Sandy.

While, Sandy said it was scary to have her BRCA test come out positive, she says it was also empowering. Moving forward, she can make her own decisions. Like other surgeries that can help lower her risk of getting breast or ovarian cancer, again.

"I keep saying that I've been driving in this car that's been weaving all over the road and I don't know what it's going to smash into and my driver has been cancer. This BRCA testing puts me in the drivers seat," says Sandy.

Meaning now, she's kicking cancer to the curb.

At this time, BRCA gene testing is only for patients with a concerning personal condition or family history of cancer.

If you'd like to know more, it's advised to speak with your doctor.

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BRCA Gene Testing allowing patients to dive deeper into their families history of breast cancer - Valley News Live

Recommendation and review posted by Bethany Smith

Its hard to regard Ellie as a menace.

When Greg Manteufel is frustrated or feeling down, she sits by him. At night, she sleeps under his covers. At dinner, shes there next to him, knowing hell throw something her way. She belies the stereotype of the vicious pit bull.

We love her like shes our daughter, he said of the dog.

And yet, Ellie may be the reason Manteufel, 49, nearly died.

Gravely ill, he lost parts of his arms and legs, as well as the skin of his nose and part of his upper lip. The cause was capnocytophaga, a germ from Ellies mouth or from another dog he encountered.

READ MORE: Dog owners limbs amputated after contracting rare infection from lick

Capnocytophaga is commonly found in the saliva of cats and dogs and almost never leads to people getting sick, unless the person has a compromised immune system. But Manteufel was perfectly healthy. In fact, he doesnt think hed ever used his health insurance before he fell ill.

The case is extremely rare and doctors at his hospital, Froedtert & the Medical College of Wisconsin, had no explanation for why he got so sick. But over the last 10 years there have been at least five other healthy people who have had severe reactions to the germ. A team of researchers connected with Harvard Medical School has developed a theory on why a gene change in all the victims.

And their finding means doctors cant rule out the capnocytophaga bacteria could strike Manteufel and other victims again.

Greg Manteufel thought he was getting the flu in June of 2018. He had a fever, vomiting and diarrhea. But when he started getting confused, his family took him to the hospital.

Doctors did blood cultures and found capnocytophaga, which caused sepsis, a severe blood infection that led to his blood pressure dropping and many of his organs shutting down.

Do what you have to, to keep me alive, he told the doctors.

In this Aug. 2, 2018 file photo provided by Dawn Manteufel, Greg Manteufel lays in his hospital bed at Froedtert Hospital in Milwaukee. He lost parts of his arms and legs, as well as the skin of his nose and part of his upper lip from capnocytophaga.

He had so much to live for foremost, his wife of 16 years, Dawn, and 26-year-old son, Mike. He was just starting to get really good at his day job, painting houses. He cherished his Harley Davidson Electric Glide. He was in the middle of fixing up his 66 El Camino. And of course there was Ellie, the pup.

And so he persisted, through more than 20 surgeries, including amputations of his left and right arms just below the elbow, and legs through the middle of the knee.

His wife and son stayed optimistic, because he was.

Greg said he didnt come this far to lay down and let this beat him, Dawn Manteufel said.

He was out of the in-patient rehab unit in about two weeks, learning to move from his wheelchair to the bed, toilet and car. The usual stay is three to four weeks, said Dr. David Del Toro, medical director for the inpatient rehab unit at Froedtert.

Manteufel made similar quick advances using his arm prosthetics and leg prosthetics.

He does not seem like any other patient Ive met before, Del Toro said. Hes just, you know, full speed ahead.

In this Aug. 19, 2019 photo, Greg Manteufel tries out a new prosthetic arm during occupational therapy at Froedtert & the Medical College of Wisconsin, in Milwaukee, as his wife Dawn Manteufel reads paperwork in the background.

Meanwhile, researchers at Brigham and Womens Hospital in Boston, connected to Harvard Medical School, as well as Dana-Farber Cancer Institute and Beth Israel Deaconess Medical Center had been investigating cases like his.

The team has done genetic testing on five otherwise healthy people who suffered capnocytophaga infections to see if they could find anything in common. They discovered all had a gene connected to the immune system that was working differently a genetic variant.

It was a really thrilling moment, said Elizabeth Fieg, a genetic counselor at Brigham and Womens Hospital. The stakes are so high with these cases and the patients have gone through so much.

READ MORE: Owning a dog is good for your heart study says what we all knew

They believe it makes those people more susceptible to developing severe medical problems from capnocytophaga. But they are also trying to determine if there are other risk factors.

Of the five in the study, three survived with amputations and two did not. Fieg hopes their research can determine why some did not survive.

She also hopes if their theory is confirmed, it will help diagnose cases faster, and perhaps save lives and limbs.

Thats why Greg Manteufel jumped at the chance to take part when he was approached in August.

Researchers need to gather more evidence, but hope to publish their study in the next year to 18 months.

Manteufels life now includes frequent occupational therapy appointments to perfect his use of arm prosthetics the kind with metal moveable hooks at the end. Hes using a fork regularly and hes now working on picking up the TV remote, opening doorknobs, cutting vegetables and doing the dishes.

Hes using shortened leg prosthetics, called stubbies, to get his body conditioned to eventually use to full-sized ones. Those are expected to arrive any day.

Plastic surgeons plan another surgery to perfect his nose. Theyve already moved skin from his forehead there. It looks oversized now, but it will eventually fit in with the rest of his face.

He plans to get his car revamped so he can drive with prosthetics. He wants to get a special pole so he can go fishing again. He is even considering going back to work painting.

Hes also become less quiet and a lot more outgoing. Now everybody I see wants to hear something or talk to me. I tell them a 15-minute story about what happened. They probably want me to leave, you know, he said, chuckling.

Ellies often by his side.

She loves kids. She loves puppies. Other dogs, Manteufel said.

As harmless as she seems, she may have capnocytophaga germ.

In this Aug. 16, 2019 photo, Greg Manteufel takes his dog Ellie from his wife Dawn Manteufel at their home in West Bend, Wis.

The results of Manteufels genetic tests are expected in three to four months. Fieg said people with the gene variant are at increased risk for recurrent capnocytophaga or other infections in the future.

While Manteufel doesnt like the sound of that, he said Ellies accidentally scratched him since hes been home and even licked his mouth. Hes been fine.

And even if he does have the gene variant, he said, it changes nothing.

We didnt even bother testing her, said Manteufel. We werent going to get rid of her if it was her that caused it anyway.

We just love her to death.

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Genetics might explain why this mans limbs had to be amputated after his dog licked him - Global News

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A 28-year old woman arrived to the ER wheezing and short of breath. She had asthma and came in requesting a refill of her inhaler.

But when I examined her, I found out that something else much more serious was going on. The patients blood pressure was very high. Her legs and arms were swollen. Her lungs were filled with fluid. She told me that she had given birth a month before. During her pregnancy, she started having wheezing and trouble breathing, which she attributed to her asthma. Actually, she had untreated high blood pressure that progressed and worsened to life-threatening heart failure.

This scenario was tragically typical. As an emergency medicine physician working in ERs in Boston and Washington, D.C., I saw devastating cases like these far too often.

About 700 women in the U.S. die every year from complications of pregnancy, according to the CDC. And more than 50,000 women face severe health consequences in pregnancy. All of this is to say that women giving birth in the U.S. today are actually more likely than their own mothers to die in childbirth. In fact, more people in the U.S. are dying from pregnancy-related complications than in any other developed country, according to an investigation by NPR and ProPublica in 2017.

The public health crisis of maternal mortality is particularly acute for black women, who have three-to-four times the likelihood of dying in pregnancy and childbirth than white women. To some extent, this can be attributed to inequities in access to care, yet we know that these racial disparities persist even when controlling for all other factors. Structural racism in health care is a key contributor, as the research shows that health care providers are less likely to take the pain of black patients seriously. A recent study from the CDC found that three-in-five pregnancy-related deaths can be prevented, compounding the tragedy.

As a mother of a two-year-old, expecting my second child in March, I know that the period spanning pregnancy to parenting an infant is one of the most rewarding yet vulnerable times in a persons life. In medicine, we refer to pregnancy as a physiological stress test. A pregnant womans blood supply increases by nearly 50 percent; hormone levels fluctuate; and because of the growing uterus and increasing demands of the body, lung volumes reduce by five percent, while oxygen consumption increases. The levels of clotting factors in the blood increase in preparation for active labor, which is in itself a marathon that often lasts many hours.

The postpartum period is another time of incredible vulnerability. During this period, new mothers face a wave of new challenges that can accumulate and often compound mental health conditions like postpartum depression. After giving birth, they become full-time caregivers to a newborn, while learning breastfeeding, barely sleeping, and often navigating the return to work. In a country that lacks federal paid parental leave, many new mothers are back to work within weeks of giving birth, which can result in health consequences like maternal stress and anxiety. Medicaid coverage for new mothers, many of whom are people of color, ends at 60 days after delivery, and many people lose health insurance during this time of medical need. Through these challenges, parents often prioritize the care of their infants and push their own health aside; it is estimated that as many as 40 percent of women do not attend a postpartum visit.

In recent months, there has been increased attention to maternal deaths during childbirth. These are important calls to action, but we must also pay attention to the research that shows that the majority of maternal deaths occur outside of the labor and delivery period itself. Approximately two-thirds of maternal deaths occur before or even months after delivery, according to the CDC. These deaths are largely attributed to undertreated chronic illnesses such as heart disease, high blood pressure, and mental illness.

In order to improve maternal health, we have to focus on improving all womens health and access to carenot just during labor and delivery, but before and after pregnancy, and throughout our lives.

It is imperative that we address the barriers to access and the systemic racism that we know is contributing to our astronomically high maternal mortality rates. The onus must be on the health care system to make necessary changes. But we cant wait for systemic change to occur if we need medical care now. Here are a few crucial steps you can take to advocate for yourself and obtain the best care you can:

You can stay on top of your wellness visits. Regardless of whether or not you have given birth or plan to in the future, you can do your best to take care of your health now. Women are often caregivers for our loved ones, but we must care for ourselves to care for others. The best time to keep yourself healthy is before you get sick.

So instead of waiting for something to be up, go ahead and schedule a well-woman visit with your doctor. Your doctor can screen you for common conditions like high blood pressure and diabetes, which are associated with complications during pregnancy including heart disease, preeclampsia and eclampsia (pregnancy-related disorders of high blood pressure), placental abruption (when the placenta separates from the wall of the uterus), and gestational diabetes.

You should also get tested regularly for STIs. If left untreated, STIs can lead to pelvic inflammatory disease and ectopic pregnancy (a pregnancy that grows outside of the uterus), the most common cause of death among women during the first trimester.

Make sure that you are up-to-date with preventive testing such as Pap tests and breast screenings. Even if youre not pregnant, diagnosing and treating medical conditions now can prevent complications during a future pregnancy.

You can choose contraception if youre not looking to get pregnant. Birth control can help you plan and time your pregnancy, which can help some women get pregnant at a time that is best for them and their bodies. Experts estimate that without access to contraceptives, many more mothers would die globally from pregnancy-related complications. Another study found that increasing contraceptive use in developing countries has cut the number of maternal deaths by more than 40 percent over the past two decades.

Birth control can also be beneficial for many patients in ways that dont directly relate with becoming pregnant. It can help with symptoms of other conditions, like polycystic ovarian syndrome (PCOS) and endometriosis.

You can ask for help. This is true for all women, regardless of whether or not theyre pregnant or plan to be pregnant. But pregnancy and the postpartum period can be particularly vulnerable times for mothers, especially those experiencing a mental health condition or substance abuse or addiction.

It can be really hard to know where to turn when you need help, but one place to start would be your primary care doctor or a local health clinic. Remember that your mental health is just as important as your physical health. Tell your doctor if you have feelings of depression, anxiety, and trouble coping. If you find yourself relying on substances such as alcohol or opioids to deal with the stresses of life, you may have a medical condition that treatment can help.

If youre pregnant or have recently given birth and youre experiencing any worrying symptoms, do not hesitate to seek medical attention. For urgent concerns, go to the ER to get care.

The patient whom I mentioned earlier was in the Intensive Care Unit for a week. Though she will now always have a heart condition, she is able to live her life and care for her young daughter. Her outcome could have been vastly different had she not received care in timeand it could still have been different if her high blood pressure was treated much earlier.

Ending maternal mortality wont be easy, but as mothers, future mothers, spouses, and friends, lets start with what we can do right now. After all, to have healthy women, children, and families in the future, we must start with healthy women today.

Leana S. Wen, M.D. M.Sc. FAAEM is an emergency physician and Visiting Professor at the George Washington University Milken School of Public Health. Follow on Twitter: @DrLeanaWen.

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As a Doctor and Mother, Heres What I Wish People Knew About the Maternal Mortality Crisis - Self

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According to the U.S. Department of Health & Human Services Office On Womens Health, hormonal birth control can be broken down into two subtypes: long-acting reversible contraceptives and short-acting hormonal methods.

Suzanna Arul

According to the U.S. Department of Health & Human Services Office On Womens Health, hormonal birth control can be broken down into two subtypes: long-acting reversible contraceptives and short-acting hormonal methods.

Suzanna Arul

Suzanna Arul

According to the U.S. Department of Health & Human Services Office On Womens Health, hormonal birth control can be broken down into two subtypes: long-acting reversible contraceptives and short-acting hormonal methods.

I started taking birth control after my first ever trip to the gynecologist. I went in looking for answers to the typical questions: Why does penetration hurt? Why does my period feel like the scene in Prometheus when Noomi Rapace births an alien? It felt like I only received one question back: Why arent you on birth control?

Although I came in feeling like a strong woman taking charge of her health, I immediately felt like a teenage girl being warned not to get pregnant. My doctor took me through a birth control tour unprompted, showing off an IUD like a brand new Mercedes. I said I would think about it.

When an ultrasound technician found a cyst on my ovary, I received a phone call that amounted to: You have a cyst, were putting you on birth control. I was given no information on the type of ovarian cyst I had (there are many), no other treatment options, and no time to discuss which method was best for me.

According to the U.S. Department of Health & Human Services Office On Womens Health, hormonal birth control can be broken down into two subtypes: long-acting reversible contraceptives and short-acting hormonal methods.

Short-acting hormonal methods include the pill, shot, patch and vaginal ring. These methods work by releasing hormones into the body that thicken the cervical mucus to block sperm and can prevent ovulation altogether, according to Planned Parenthood. Long-acting reversible contraceptives such as hormonal intrauterine devices (IUD) or hormonal implants work the same way, but dont need to be used on a schedule.

I started on the combination pill, which contains estrogen and progestin. Three weeks later, during the week of my placebo pills, I got the flu. I ran a fever, had bouts of shivering so bad I couldnt walk straight, and couldnt even keep Gatorade down.

To give a better sense of just how sick I was, I alerted my roommate to check on me every few hours in case I needed to be carried to the emergency room. I paid $60 for a last-minute Tamiflu prescription and totally recovered within a week.

For the next three months, I got the flu on a consistent schedule of every four weeks. Recognizing that something was up, I made another doctors appointment (I would rack up about $350 in copayments by the end of this story).

My doctor called my case unusual, but did little more than a basic blood test before sending me home with a new prescription for a slightly lowered dosage of the same pill. Between January and April, I tried two new pills that would surely fix my mystery illness, yet I continued to get sick every month like clockwork.

I missed parties that my friends still reminisce on and full weeks of class. I showed up at one male professors office the day a paper was due, mumbling something about hormone levels and blood tests because I knew one mention of my period meant hed stop taking my problem seriously.

If youve ever suffered from a recurring health issue, you know that after a while people start to blame you for not getting better already. I felt like I was constantly over-explaining, trying to prove that I wasnt just having bad periods; I was suffering every month.

When the semester ended, I braced myself for a serious conversation with my doctor. I was leaving for a two-and-a-half-month internship in South Africa, and I couldnt miss work or a travel opportunity because I was sick.

She started me on the Nuvaring, which is a self-inserted vaginal ring containing hormones. She said that the localized hormone dispersal should make my symptoms less severe.

I got on the plane with a box full of Nuvarings and awkwardly told my new roommates that yes, there were contraceptives in the fridge. I had such high hopes for this method that when I still got sick, I called home and cried.

I stayed home instead of going to see the Southernmost tip of Africa because of my birth control. To make matters worse, I felt like my peers didnt even believe I was sick because I couldnt explain what I was sick with.

Research has shown that women are more likely to have their pain dismissed by medical professionals and less likely to receive diagnosis or treatment, according to The New York Times. I couldnt stop thinking about how maybe if birth control were a mens health issue, there would be a name and an explanation for what was happening to me.

I decided then that I would quit hormonal contraceptives cold turkey as soon as I got back to the U.S.

When I told people I was done with birth control, a lot of them responded with, What are you going to do now? in a disapproving tone, as if I couldnt be trusted to make decisions about my own body or keep myself from getting pregnant.

Increasing awareness about sexual health is a good thing, but sometimes hormonal contraceptives are painted as the only responsible option. My story with birth control has shown me that the most responsible way to approach reproductive health is to know your body and trust yourself to decide what it needs.

If you decide to use hormonal contraceptives, it should be because you want to, and it should be prescribed by a physician who will listen to, believe and treat you.

Go here to see the original:
My story with birth control - The Cluster

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The former Oasis frontman Liam Gallagher has spoken about how Hashimoto's thyroiditis might shorten his career but a specialist tells Medscape News UK the condition is very treatable.

Hashimoto's thyroiditis is typically more common in middle-aged women and can run in families.

Liam Gallagher first talked about his diagnosis and hoarse voice in 2017, including in an interview with the Guardian .

Now, ahead of a 47th birthday homecoming concert in Manchesterin an interview with Apple's Beats 1 he's talked about how the condition might end his career: "Im aint going to get any bigger. If anything, its only going to get worse. You are in that zone now, youre looking about and youre going. All right. I kind of see whats going on but, its all about the journey man.

However, he was reflective about his future career: "If it lasts 10 years, it lasts 10 years. If it lasts 5 years, it lasts 5 years. If it ends tomorrow, Ive still had a f-ing blinder do you know what I mean?"

He continued saying Hashimotos disease "makes your voice a lot hoarser. Thats some of the symptoms.

Dr Paul Jenkins is a consultant physician and endocrinologist at The London Endocrine Centre, and a board member of The Thyroid Trust. He spoke to Medscape News UK.

How can Hashimoto's affect the vocal cords?

If it's untreated, it does cause the cords to be swollen, and to result in a hoarse voice. That's one of the classic signs of an underactive thyroid.

What about the singing style?

With a change in their vocal range, the tenor of their voice, in their singing.

Effective treatment should be able to restore this but not always.

And will it, as Liam Gallagher fears, worsen over time?

No, it should not worsen over time. But most of us don't use our vocal cords so strenuously day-to-day. If you're really straining them I guess it's conceivable, but it shouldn't really worsen.

Is a 'rock-and-roll' lifestyle unhelpful for Hashimoto's?

No, I don't think you could say that. Hashimoto's disease is a very common autoimmune condition of the thyroid gland, where the body's immune system starts attacking it.

Liam Gallagher spoke of it possibly ending his career. Would a more positive attitude be helpful?

That's his thoughts on it. I can't say whether it's positive or negative, it depends on one's overall context.

He's been out of the public eye for some time. So he hasn't been singing as much as he used to.

What kind of treatment regime might he be following?

It is thyroid hormone replacement. It's taking exactly the same hormone as the body is not making butin a tiny pill form.

It is for life, because once the thyroid gland has been destroyed, it does not ever heal itself in this condition.

Are some cases more complex?

Some patients need additional treatment, not just with the thyroxin, but they can continue to have symptoms of underactive thyroid, even if they're taking apparently adequate doses of thyroxin. And we increasingly recognise that they require T3, which is the other active thyroid hormone, in addition to thyroxin.

Is Hashimoto's hard to diagnose in primary care?

No, it should not be hard to diagnose overt cases. There is, as always the grey cases, those that you're not absolutely certain about or don't tick all of the boxes. And that's when a specialist can be prepared to even just try some thyroxin to see if it helps. Certainly, specialists are needed to diagnose those individuals who don't convert the thyroxin to the T3, and who need additional T3.

That's a more controversial area but undoubtedly in my experience, very, very much does exist. And that needs specialist input.

Is it helpful for a major celebrity to come forward and talk about a condition like this?

I think it can be helpful for any celebrity to talk about their conditions, if it raises public awareness of the condition and the treatments to restore it.

So the more debate and discussion, and knowledge generally is a good thing, as long as it's responsible knowledge, and people are given the true facts about their condition.

I'm very happy for him to raise awareness of it and to discuss it.

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Will Hashimoto's End Liam Gallagher's Singing Career? - Medscape

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Its a real bummer when Aunt Flo arrives unexpectedly, but it can be even more panic-inducing when she doesnt show up at all. Every woman has a late or missed period at some point and the first step to figuring out why is getting familiar with your period before its missed. In order to determine your normal menstrual cycle it is important to keep track of when you have your period through a calendar or app on your phone, says Shannon Schellhammer, M.D., F.A.C.O.G., an obstetrician/gynecologist at Orlando Health.

Essentially, every womans body is different and works at its own speed. In fact, despite the popular belief that there are 28 days in a menstrual cycle, a 2019 study of more than 600,000 women in the journal Nature found that only 13% of women have 28-day cycles, and 29.3 days is actually the average length. On top of that, the International Federation of Gynecology and Obstetrics reports that a normal cycle can range anywhere from 24 to 38 days.

Your period is late if you are more than five days past the expected start date of your period, says Jacqueline M. Walters, M.D., an obstetrician/gynecologist and author of the forthcoming book The Queen V: Everything You Need to Know About Sex, Intimacy, and Down There Health Care. Your period is considered missed if you have gone more than one to two weeks past the expected start date. Our bodies are so complex that the potential reasons why you might miss a period are endless, but here are a few common ones.

1. Pregnancy

The number one cause for a missed period is pregnancy! says Dr. Schellhammer. She advises taking a home pregnancy test if you are sexually active, regardless of your age and form of birth control. Once you rule out pregnancy, it is safe to wait for the next month to see if you have a normal period. However, if you are concerned or do not have a clear cause of why you missed your period, I recommend you call your OB/GYN or primary care doctor to be seen. This is especially important if you have not been seen within the last year for an annual well-woman exam.

2. Stress

Stress whether its from something great like planning a wedding, starting a job, or moving to a new house, or something not-so-great like job loss, a bad relationship, or depression can press pause on your period. The chemistry required to develop and produce a normal cycle can be influenced and delayed by high levels of cortisol and/or adrenaline, which increase in the body as a result of chronic, daily stress, says Hector O. Chapa, M.D., F.A.C.O.G., clinical assistant professor of obstetrics and gynecology at Texas A&M University College of Medicine. This delayed cycle may be your bodys way of reminding you to take care of yourself. If stress is the cause for your missed period, it should resume when things in your life calm down.

3. Polycystic Ovarian Syndrome (PCOS)

"Without a doubt, PCOS is the most common hormone imbalance in women that leads to delayed or missed cycles in women aged 18 to 44, excluding pregnancy, says Dr. Chapa. The condition occurs when a woman produces more male hormones than normal. While blood tests and a vaginal ultrasound may support a diagnosis, the diagnosis may be considered if a woman has two of these three symptoms: excess facial or male-pattern hair growth, irregular periods and ovaries that appear to have little cysts. Theres no cure, but your OB/GYN can help you find the right treatment to get your cycle back on track. If PCOS isnt the culprit, your physician can help you figure out if another hormonal imbalance caused by thyroid or pituitary problems is at play.

4. Excess exercise

Exercise is necessary for our well-being, but too much of itwithout the caloric supportcan take a toll on our bodies and trigger missed periods. The female athlete triad occurs when a female athlete has low energy intake or disordered eating, menstrual delays or absence and low bone mass, says Dr. Chapa. Along the same lines, a bodyweight thats more than 10% below the ideal weight for your height can mess with your menstrual cycle.

Rattankun ThongbunGetty Images

5. Medications

When you put a chemical into your body (including herbal supplements), it can cause a chain reaction that spreads across different systems. Birth control, antipsychotics, antidepressants, and chemotherapy can all cause a missed period, says Dr. Walters. If you recently started a new medication and started skipping periods, bring it up with your physician to see if its a normal side effect. For instance, with some contraceptives including IUDs, the shot, and certain birth control pills your period may stop altogether.

6. Perimenopause

Unless the ovaries are surgically removed, menopause doesnt just happen, says Dr. Chapa. The interval leading up to menopause is called the perimenopause and is marked by hot flashes, mood changes, and of course, changes in the menstrual cycle called skips and delays. While the average age of menopause in the U.S. is 51, Dr. Chapa says these changes can start anytime in your 40s.

The bottom line: A missed period rarely causes immediate harm to a womans health, but it does signify something underlying, says Dr. Walters. If the pattern continues, it can affect a womans ability to get pregnant, cause bone loss, lead to ovarian cysts, and cause excessive male-pattern hair growth thinning or balding on the head and more hair on the face, chest and abdomen. No one knows your body better than you so the best thing you can do is pay attention and dont hesitate to give your OB/GYN a call if something feels off.

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6 Reasons for a Missed Period Why Your Period is Late, According to Doctors - GoodHousekeeping.com

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September 25, 2019 Whole breast radiation and partial breast radiation following a lumpectomy yield similar cosmetic outcomes for women diagnosed with early stages of cancer who wish to preserve their breasts. Findings of the new analysis from a phase III clinical trial were presented at the 61st Annual Meeting of the American Society for Radiation Oncology (ASTRO), Sept. 15-18, 2019,in Chicago.

Partial breast radiation is a good choice. Thats what Im going to say to certain subsets of my patients, said Julia White, M.D., FASTRO, a professor of radiation oncology at The Ohio State University Comprehensive Cancer Center and lead author on the abstract.

Women diagnosed with early stages of cancer (stage 2 or earlier) who undergo lumpectomies typically follow their surgery with radiation therapy to lower the risk of having the cancer return. Partial breast radiation can be an appealing treatment option, because the radiation is delivered over several days to a smaller area around the surgical site instead of 3 to 4 weeks to the entire breast.

Previously published results from this phase III trial, NRG Oncology/NSABP B39-RTOG 0413, found partial breast radiation to be only slightly less effective than whole breast radiation at reducing the risk of cancer recurring in the breast. There were no significant differences between treatment groups in overall survival rates, the time patients lived without the cancer coming back or the time patients lived without the cancer spreading to another site. In the current analysis, White and her team focused on cosmetic outcomes to help guide patients for whom both treatment choices would be equally or nearly equally effective for breast-conserving therapy.

In this analysis of 900 women with early-stage breast cancer who received either partial breast radiation (n=477) or whole breast radiation (n=423), both the patients and their physicians were asked to rate the cosmetic outcome of the treated breast, in comparison to the untreated side, as either excellent, good, fair or poor at three different times (baseline, 12 months after treatment and three years after treatment). Patients also rated their satisfaction with the outcome. Additionally, digital photos of the womens breasts acquired at each time point were rated by two teams of three physicians each who were blinded to which treatment the women received, when the photos were taken or which breast was treated.

We found that whether the women received whole breast radiation or partial breast radiation, there was an equivalent cosmetic outcome from the patients' perspective, said White. This pattern held whether the patient also received chemotherapy as well as radiation and lumpectomy. In addition, patients' satisfaction with their treatment and cosmetic outcome were equivalent for whole breast and partial breast radiation. Three years after completing radiation therapy, 81 percent and 86 percent of patients said they were totally satisfied with partial breast or whole breast radiation, respectively; 14 percent and 11 percent were somewhat satisfied; 2 percent and 3 percent were neither satisfied nor dissatisfied; 1 percent and 2 percent were somewhat dissatisfied; and less than 1 percent of patients in each group said they were totally dissatisfied with their treatment.

Treating physicians rated cosmetic outcomes from partial and whole breast radiation as equivalent at one year after treatment (p=1.00), but outcomes from partial breast radiation were considered worse at three years after treatment (p=0.001).

The physicians who reviewed digital photos without knowing if or when the breast received radiation rated cosmetics outcomes as equivalent for partial and whole breast radiation at one year (p=0.99) and three years (p=0.99) after treatment. There were differences between the ratings for patients who did or did not receive chemotherapy, however, with outcomes after partial breast treatment rated slightly worse among patients who received chemotherapy and outcomes after whole breast radiation rated slightly worse in the non-chemotherapy group.

Agreement between the patient and physician ratings was notably stronger when patients had better cosmetic outcomes after treatment. On average, patients who scored their outcomes as "excellent" or "good" (versus those who rated them as "fair" or "poor") agreed with their doctors' ratings 89 percent (vs. 45 percent) of the time and agreed with physicians making photo-based ratings 85 percent (vs. 32 percent) of the time.

White said the findings were important for women facing difficult choices after being diagnosed with breast cancer. If a patient chooses breast conservation for her treatment, she generally wants the breast to feel and look as normal as possible. It is difficult to have to say to a patient that she can have a shorter, more convenient treatment but will have to accept a cosmetic outcome that is not as nice as she would get with a longer treatment. We were relieved to find out the cosmetic outcomes are equivalent.

Understanding the physicians perspective on cosmetic outcomes as well as the patients was important, said White, because how the physician regards the results of treatment will help guide improvements in care. I am happy that the cosmetic outcomes based on the patients assessment and physician review of the digital photos were in agreement, she said. On the other hand, doctors who treat patients will ask themselves what they could have done differently to reach a better outcome or start cataloging what they did to reach the positive one, perhaps leading to innovations that improve outcomes.

The results of NSABP B39-RTOG 0413 and other randomized trials indicate that patients with Stage 0 or 1 breast cancer, who are over the age of 50 and have hormone-sensitive disease, would benefit equally well from partial or whole breast radiation for breast-conserving therapy, consistent with the ASTRO Consensus Statement for Partial Breast Irradiation. This subset of patients with breast cancer accounts for roughly 25-30 percent of new cases treated, or about 30,000 women each year, said White.

View additional coverage of ASTRO 2019

For more information: http://www.astro.org

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Partial and Whole-Breast Radiotherapy After Lumpectomy Provide Equally Satisfying Cosmetic Results - Imaging Technology News

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Now, in addition to the nightmare of cancer, I had the nightmare of having to make a decision.

Two weeks post lumpectomy, the bruising and swelling were slowly going away. I stopped worrying about recovery and started agonizing about what lay ahead. If there were any benefit to doing chemo to decrease my chances of becoming metastatic, I should take it. I want to be alive when my kids get married and spoil my future grandchildren, even if that means torturing my body for a few months.

My husband, Kevin, a family practice physician, tried to talk me down. One-point-six percent is insignificant compared to how it could weaken your immune system, cause permanent nerve damage, osteoporosis it could even give you another cancer or kill you. You should trust your doctor. And your husband.

I wanted to. But the market researcher in me trusted information. I needed to collect qualitative and quantitative data and analyze which choice I would regret more. Which would allow me to live most fully and take care of the people I love?

At restaurants, waiters try to hide their irritation as I scroll through Yelp reviews on my phone to ensure the most popular dishes are being ordered. My notes on choosing a preschool were so robust I turned them into a how-to book. My newfound research project gave me the opportunity to feel as if I were actively doing something to heal myself.

Each night, once I heard Kevin snoring, I sat up against the headboard, turned on my iPad and lowered the screen brightness. I hurled myself down the rabbit hole of news articles, breast cancer websites and community forums. The TAILORx study was so new, however, there wasnt much information and no concrete answer.

In my support group, most of the conversation revolved around tips for getting through chemo the depression, mouth sores, numb hands and feet, and what to do when hair that fell out never grew back. I couldnt relate and didnt want to, yet somehow I envied them for being fighters.

One day I read about another test called MammaPrint. At our next appointment, my doctor happily showed me that those results also supported the argument against chemo. Time had run out and that was the final data point I needed. We arranged to start my month of radiation treatment the following week, followed by five years of daily hormone blocker pills. I apologized for second-guessing. She gave me an understanding smile and replied, Knowledge is power. She hugged me, said congratulations, and I was on my way. Decision made.

Originally posted here:
Is Everyone Doing Chemo Without Me? - The New York Times

Recommendation and review posted by Bethany Smith

NEW YORK--(BUSINESS WIRE)--Pfizer Inc. (NYSE: PFE) today announced the presentation of four IBRANCE (palbociclib) real-world analyses. The studies support the effectiveness of IBRANCE combination therapy in everyday clinical practice and provide additional insights on its use in certain patients with hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) metastatic breast cancer (MBC). The posters will be presented at the European Society for Medical Oncology (ESMO) Congress 2019 in Barcelona, Spain on Sunday, September 29.

Among the data, Pfizer will share the first real-world comparative analysis of a CDK 4/6 inhibitor in combination with an aromatase inhibitor compared to an aromatase inhibitor alone.

We have an opportunity to make positive changes in cancer care by incorporating learnings from real-world data in addition to data gathered from clinical trials, said Chris Boshoff, M.D., Ph.D., Chief Development Officer, Oncology, Pfizer Global Product Development. We are pleased to share this view of the impact IBRANCE has had on patients treated outside of traditional clinical studies, as it continues to add to the body of evidence for IBRANCE and provides insights into the patient experience.

About the Real-World Comparative Analysis

In this retrospective analysis (Abstract #329P: Comparative effectiveness of palbociclib plus letrozole vs. letrozole for metastatic breast cancer in U.S. real-world clinical practices), treatment with IBRANCE plus letrozole demonstrated a statistically significant improvement in real-world progression-free survival (rwPFS) compared to letrozole alone: 24.5 months (95% CI = 20.7 32.7) versus 17.1 months (95% CI = 13.7 19.8) (HR = 0.68, 95% CI = 0.56 0.84, p = 0.0003).

To help deliver the best care to our patients, it is critical that physicians have compelling evidence of a medicines benefit on patients who resemble those who they treat every day, said Rachel Layman, M.D., Associate Professor, Department of Breast Medical Oncology at The University of Texas MD Anderson Cancer Center. The real-world evidence presented at ESMO provides a more robust understanding of the effectiveness of IBRANCE in patients who may not be reflected in the randomized trials.

The analysis compared 906 matched patients with HR+, HER2- MBC who started IBRANCE plus letrozole as initial endocrine-based therapy in the metastatic setting (n=453) or letrozole alone (n=453) from February 2015 to August 2018. rwPFS was measured by the treating physicians clinical assessment of source evidence, such as radiographic scans or pathology from the Flatiron Health longitudinal database. The most recent update for this database includes de-identified electronic health records from more than 280 cancer clinics representing more than 2.2 million cancer patients in the U.S.

The additional real-world posters at ESMO examining the use of IBRANCE in patients with HR+, HER2- MBC are:

To further educate the global oncology community about the importance of real-world data at ESMO, Pfizer is sponsoring a satellite symposium, Real World Data in Oncology: Its Growing Role in Research and Patient Care. The symposium will take place on Friday, September 27, from 6:00 8:00 pm CEST at Fira Gran Via in the Alicante Auditorium (Hall 3).

About IBRANCE (palbociclib) 125 mg capsules

IBRANCE is an oral inhibitor of CDKs 4 and 6,1 which are key regulators of the cell cycle that trigger cellular progression.2,3 In the U.S., IBRANCE is indicated for the treatment of adult patients with hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-)advanced or metastatic breast cancer in combination with an aromatase inhibitor as initial endocrine based therapy in postmenopausal women or in men; or with fulvestrant in patients with disease progression following endocrine therapy.

The most common adverse reactions (incidence 10%) associated with IBRANCE are neutropenia, infections, leukopenia, fatigue, nausea, stomatitis, anemia, alopecia, diarrhea, thrombocytopenia, rash, vomiting, decreased appetite, asthenia, and pyrexia. Today in the U.S., IBRANCE is the most prescribed FDA-approved oral combination treatment for HR+, HER2- metastatic breast cancer.

IBRANCE currently is approved in more than 90 countries and has been prescribed to more than 230,000 patients globally.

The full U.S. Prescribing Information for IBRANCE can be found here.

IMPORTANT IBRANCE (palbociclib) SAFETY INFORMATION FROM THE U.S. PRESCRIBING INFORMATION

Neutropenia was the most frequently reported adverse reaction in PALOMA-2 (80%) and PALOMA-3 (83%). In PALOMA-2, Grade 3 (56%) or 4 (10%) decreased neutrophil counts were reported in patients receiving IBRANCE plus letrozole. In PALOMA-3, Grade 3 (55%) or Grade 4 (11%) decreased neutrophil counts were reported in patients receiving IBRANCE plus fulvestrant. Febrile neutropenia has been reported in 1.8% of patients exposed to IBRANCE across PALOMA-2 and PALOMA-3. One death due to neutropenic sepsis was observed in PALOMA-3. Inform patients to promptly report any fever.

Monitor complete blood count prior to starting IBRANCE, at the beginning of each cycle, on Day 15 of first 2 cycles and as clinically indicated. Dose interruption, dose reduction, or delay in starting treatment cycles is recommended for patients who develop Grade 3 or 4 neutropenia.

Severe, life-threatening, or fatal interstitial lung disease (ILD) and/or pneumonitis can occur in patients treated with CDK4/6 inhibitors, including IBRANCE when taken in combination with endocrine therapy. Across clinical trials (PALOMA-1, PALOMA-2, PALOMA-3), 1.0% of IBRANCE-treated patients had ILD/pneumonitis of any grade, 0.1% had Grade 3 or 4, and no fatal cases were reported. Additional cases of ILD/pneumonitis have been observed in the post-marketing setting, with fatalities reported.

Monitor patients for pulmonary symptoms indicative of ILD/pneumonitis (e.g. hypoxia, cough, dyspnea). In patients who have new or worsening respiratory symptoms and are suspected to have developed pneumonitis, interrupt IBRANCE immediately and evaluate the patient. Permanently discontinue IBRANCE in patients with severe ILD or pneumonitis.

Based on the mechanism of action, IBRANCE can cause fetal harm. Advise females of reproductive potential to use effective contraception during IBRANCE treatment and for at least 3 weeks after the last dose. IBRANCE may impair fertility in males and has the potential to cause genotoxicity. Advise male patients to consider sperm preservation before taking IBRANCE. Advise male patients with female partners of reproductive potential to use effective contraception during IBRANCE treatment and for 3 months after the last dose. Advise females to inform their healthcare provider of a known or suspected pregnancy. Advise women not to breastfeed during IBRANCE treatment and for 3 weeks after the last dose because of the potential for serious adverse reactions in nursing infants.

The most common adverse reactions (10%) of any grade reported in PALOMA-2 for IBRANCE plus letrozole vs placebo plus letrozole were neutropenia (80% vs 6%), infections (60% vs 42%), leukopenia (39% vs 2%), fatigue (37% vs 28%), nausea (35% vs 26%), alopecia (33% vs 16%), stomatitis (30% vs 14%), diarrhea (26% vs 19%), anemia (24% vs 9%), rash (18% vs 12%), asthenia (17% vs 12%), thrombocytopenia (16% vs 1%), vomiting (16% vs 17%), decreased appetite (15% vs 9%), dry skin (12% vs 6%), pyrexia (12% vs 9%), and dysgeusia (10% vs 5%).

The most frequently reported Grade 3 adverse reactions (5%) in PALOMA-2 for IBRANCE plus letrozole vs placebo plus letrozole were neutropenia (66% vs 2%), leukopenia (25% vs 0%), infections (7% vs 3%), and anemia (5% vs 2%).

Lab abnormalities of any grade occurring in PALOMA-2 for IBRANCE plus letrozole vs placebo plus letrozole were decreased WBC (97% vs 25%), decreased neutrophils (95% vs 20%), anemia (78% vs 42%), decreased platelets (63% vs 14%), increased aspartate aminotransferase (52% vs 34%), and increased alanine aminotransferase (43% vs 30%).

The most common adverse reactions (10%) of any grade reported in PALOMA-3 for IBRANCE plus fulvestrant vs placebo plus fulvestrant were neutropenia (83% vs 4%), leukopenia (53% vs 5%), infections (47% vs 31%), fatigue (41% vs 29%), nausea (34% vs 28%), anemia (30% vs 13%), stomatitis (28% vs 13%), diarrhea (24% vs 19%), thrombocytopenia (23% vs 0%), vomiting (19% vs 15%), alopecia (18% vs 6%), rash (17% vs 6%), decreased appetite (16% vs 8%), and pyrexia (13% vs 5%).

The most frequently reported Grade 3 adverse reactions (5%) in PALOMA-3 for IBRANCE plus fulvestrant vs placebo plus fulvestrant were neutropenia (66% vs 1%) and leukopenia (31% vs 2%).

Lab abnormalities of any grade occurring in PALOMA-3 for IBRANCE plus fulvestrant vs placebo plus fulvestrant were decreased WBC (99% vs 26%), decreased neutrophils (96% vs 14%), anemia (78% vs 40%), decreased platelets (62% vs 10%), increased aspartate aminotransferase (43% vs 48%), and increased alanine aminotransferase (36% vs 34%).

Avoid concurrent use of strong CYP3A inhibitors. If patients must be administered a strong CYP3A inhibitor, reduce the IBRANCE dose to 75 mg. If the strong inhibitor is discontinued, increase the IBRANCE dose (after 3-5 half-lives of the inhibitor) to the dose used prior to the initiation of the strong CYP3A inhibitor. Grapefruit or grapefruit juice may increase plasma concentrations of IBRANCE and should be avoided. Avoid concomitant use of strong CYP3A inducers. The dose of sensitive CYP3A substrates with a narrow therapeutic index may need to be reduced as IBRANCE may increase their exposure.

For patients with severe hepatic impairment (Child-Pugh class C), the recommended dose of IBRANCE is 75 mg. The pharmacokinetics of IBRANCE have not been studied in patients requiring hemodialysis.

About Pfizer Oncology

At Pfizer Oncology, we are committed to advancing medicines wherever we believe we can make a meaningful difference in the lives of patients. Today, Pfizer Oncology has an industry-leading portfolio of 22 approved innovative cancer medicines and biosimilars across more than 30 indications, including breast, prostate, kidney and lung cancers, as well as leukemia and melanoma. Pfizer Oncology is striving to change the trajectory of cancer.

Pfizer Inc.: Breakthroughs that change patients lives

At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. We strive to set the standard for quality, safety and value in the discovery, development and manufacture of health care products, including innovative medicines and vaccines. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Consistent with our responsibility as one of the world's premier innovative biopharmaceutical companies, we collaborate with health care providers, governments and local communities to support and expand access to reliable, affordable health care around the world. For more than 150 years, we have worked to make a difference for all who rely on us. We routinely post information that may be important to investors on our website at http://www.pfizer.com. In addition, to learn more, please visit us on http://www.pfizer.com and follow us on Twitter at @Pfizer and @Pfizer_News, LinkedIn, YouTube, and like us on Facebook at Facebook.com/Pfizer.

DISCLOSURE NOTICE: The information contained in this release is as of September 24, 2019. Pfizer assumes no obligation to update forward-looking statements contained in this release as the result of new information or future events or developments.

This release contains forward-looking information about IBRANCE (palbociclib), including its potential benefits, that involves substantial risks and uncertainties that could cause actual results to differ materially from those expressed or implied by such statements. Risks and uncertainties include, among other things, uncertainties regarding the commercial success of IBRANCE; the uncertainties inherent in research and development, including the ability to meet anticipated clinical endpoints, commencement and/or completion dates for our clinical trials, regulatory submission dates, regulatory approval dates and/or launch dates, as well as the possibility of unfavorable new clinical data and further analyses of existing clinical data; the risk that clinical trial data are subject to differing interpretations and assessments by regulatory authorities; whether regulatory authorities will be satisfied with the design of and results from our clinical studies; whether and when drug applications may be filed in any additional jurisdictions for IBRANCE for potential HR+/HER2- metastatic breast cancer indications or in any jurisdictions for any other potential indications for IBRANCE; whether and when any such other applications may be approved by regulatory authorities, which will depend on myriad factors, including making a determination as to whether the product's benefits outweigh its known risks and determination of the product's efficacy and, if approved, whether such product candidates will be commercially successful; decisions by regulatory authorities impacting labeling, manufacturing processes, safety and/or other matters that could affect the availability or commercial potential of IBRANCE; and competitive developments.

A further description of risks and uncertainties can be found in Pfizers Annual Report on Form 10-K for the fiscal year ended December 31, 2018 and in its subsequent reports on Form 10-Q, including in the sections thereof captioned Risk Factors and Forward-Looking Information and Factors That May Affect Future Results, as well as in its subsequent reports on Form 8-K, all of which are filed with the U.S. Securities and Exchange Commission and available at http://www.sec.gov and http://www.pfizer.com.

____________________________1 IBRANCE (palbociclib) Prescribing Information. New York. NY: Pfizer Inc: 2019.2 Weinberg, RA. pRb and Control of the Cell Cycle Clock. In: Weinberg RA, ed. The Biology of Cancer. 2nd ed. New York, NY: Garland Science; 2014:275-329.3 Sotillo E, Grana X. Escape from Cellular Quiescence. In: Enders GH, ed. Cell Cycle Deregulation in Cancer. New York, NY: Humana Press; 2010:3-22.

Visit link:
Pfizer Presents New Evidence of IBRANCE (palbociclib) Effectiveness in HR+, HER2- Metastatic Breast Cancer Patients in Four Real-World Studies at ESMO...

Recommendation and review posted by Bethany Smith

Newman Center offering classes in bioethicsFILE PHOTO | THE SPECTRUMCatholic-specific courses held through NDSU.

Saint Pauls Catholic Newman Center, home of the bisonCatholics, has introduced a new course this semester. The ethics course, advertised for students going into the health professions, is meant to teach bioethics through the lens of Catholic dogma. The source of the course material as well as the introduction of religious ethical teachings sets an unusual, and perhaps concerning, precedent for classes at NDSU.

The course is listed as CHP 391: Fundamentals of Catholic Healthcare Ethics and Bioethics. The term Catholic bioethics and the idea of a course directed at health professionals seems like a bit of a paradox considering the churchs historical relationship with science and medicine. The full course takes place over three semesters and results in a certification from the National Catholic Bioethics Center (NCBC).

In an email sent out to bisonCatholics using NDSU logos, the course was described as follows: The National Catholic Certification Program in Health Care Ethics has been developed at the request of many bishops and administrators of health care facilities to provide a credible and systematic formation so that dioceses, hospitals and ethics committees will have advisors better qualified to apply the Catholic moral tradition to challenging contemporary issues in healthcare. For a three-semester course, which provides students with nine NDSU credits, the description is especially vague.

The class is taught by the Monsignor, Gregory Schlesselmann, using course modules developed by the NCBC; so, the question is: What is the National Catholic Bioethics Center? According to the website, the NCBC, Conducts research, consultation, publishing and education to promote human dignity in health care and the life sciences, and derives its message directly from the teachings of the Catholic Church. Again, this is a fairly vague description, but you can probably imagine what these messages from the Catholic Church might be.

The NCBC uses legislation and outreach to promote Catholic values within medical professions. Their stances on abortion and assisted-suicide can be easily imagined: strongly opposed. However, it is their views on topics such as gender identity and same-sex marriage that cause surprise and concern.

NCBC share regular updates, one such update stated: NCBC joins medical associations in advising the US Supreme Court that reinterpreting in federal law the term sex as gender creates a subjective and unworkable means of categorization. This ideology leaks into their work trying to legislate for policies that would protect medical professionals who do not want to assist patients trying to get gender reassignment surgery or hormone therapy.

They elaborate on this by saying, We believe that the best therapies for gender dysphoria will seek to make patients comfortable in their own bodies, rather than take unnecessary medical risks to attempt the impossible and make their bodies reflect their feelings. They are essentially saying that individuals who wish to go through gender reassignment surgery should instead receive psychological treatment to accept their bodies.

Another disturbing take from NCBC has to do with the medical professionals obligations to respect the marital status of same-sex couples. Their exact words on the topic were, There is a fundamental difference between the marital relationship of one man and one woman, with the ensuing rights recognized for the well-being of children and society, and committed relationships between two persons of the same sex.

With all of this information in mind, you may ask: Why should we care? Sure, its no secret how the Catholic church feels about abortion, same-sex marriage, gender identity and physician-assisted suicide. However, when a course promoting Catholic views on all these topics is being taught through NDSU, these feelings go beyond religious expression into the muddied waters of possible discrimination.

NDSU anti-discrimination policy specifically states that programs cannot discriminate on the basis of sexual orientation or gender identity; however, CHP 391 is being taught through an organization who is fighting for legislation that will discriminate on those bases specifically. The course seems to provide future medical professionals with legal tools to avoid treating certain patients. Its difficult to see how this course work will not directly contradict NDSUs own policies.

The real concern is how instituting religion-specific ethics courses, or any other courses directly in favor of a specific religion will affect the NDSU community. NDSU is at its most beautiful and progressive when multiple religions and diverse backgrounds are present. If courses are to be taught that support Catholic doctrine, where can we draw the line from stopping courses being taught which encourage other religious teachings, which propagandize certain political ideologies or that blatantly encourage the discrimination of identities held by NDSU students?

While I am not Catholic, I can say with absolute certainty that I would not want courses held at NDSU which only serve to encourage my personal beliefs. Individuals come to college to broaden their perspective and learn about disparate points of view. As of now, no rules may technically have been broken. However, the possibility that an individual may find themselves in the hands of an NDSU health professions graduate and not be served due to identity or spiritual belief should concern both the students and the administration. A precedent has been set and the resulting dangers could be substantial.

See the rest here:
Religion in the health professions - NDSU The Spectrum

Recommendation and review posted by Bethany Smith

MedicalResearch.com Interview with:Adrian E. Bostrm MD, on behalf of the authorsDepartment of NeuroscienceUppsala University, Sweden

MedicalResearch.com: What is the background for this study?

Response: While prevalence estimates vary, literature indicates that hypersexual disorder (HD) affects 3-6% of the population. However, controversy surrounds the diagnosis and little is known about the neurobiology behind it.

Hypersexual disorder has not previously been investigated with regards to epigenomic and transcriptomics in a hypothesis-free study approach and little is known about the neurobiology behind this disorder.We investigated whether there were any epigeneticchanges that affect gene activity and expression in hypersexual disorder (HD)patients and identified a dysregulated microRNA that is believed to influence the mechanism of action of the hormone oxytocin in brain.

Oxytocin is known to have wide-rangingbehavioral influences. To the bestofour knowledge, no previous study provided evidence for an association between DNA methylation, microRNA activity andoxytocin inhypersexual disorder.Our findings merits further research in the role of MIR4456 and especially Oxytocin in hypersexual disorder. Further studies are needed to confirm the role of Oxytocin in HDand to investigate whether treatment with oxytocin antagonist drug therapy could have beneficial effects for patients suffering from hypersexual disorder.

MedicalResearch.com: What are the main findings?

Response: In this study we investigated over 8000 different DNA methylation sequenced in a hypothesis-free and thereby unbiased manner. Therefore, we were intrigued and surprised to identify a strongly dysregulated microRNA targeting genes primarily expressed in brain and that are involved in major neuronal molecular mechanisms thought to be relevant for hypersexual disorder, e.g. the oxytocin signaling pathway. This microRNA alsoappears to be evolutionary conserved throughout primates, which is also an interesting and unexpected finding.

MedicalResearch.com: What should readers take away from your report?

Response: Hypersexual disorder incorporates different pathophysiological mechanisms including impulsivity, compulsivity, sexual desire dysregulation and sexual addiction. This can be interpreted such that hypersexual disorder contains addictive elements, but is not to be seen as exclusively an addiction. Our findings, in light of the crossover with alcohol dependence, suggest that MIR4456 and the oxytocin signaling pathway may be primarily involved with the addictive component of hypersexual disorder. Further studies are needed to fully confirm this.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Our results motivates further research in the efficacy of, for example, oxytocinregulating drug therapy in hypersexual disorder whichcould contribute to novel treatment options to improve the clinical outcome of those affected. In addition, we identify a specific microRNA (miRNA)for whichfuture potentialmiRNAregulating drugs could be tested in hypersexual disorder.

MedicalResearch.com: Is there anything else you would like to add?

Response: Our DNA is genetic code for genes that translate into different sequences of amino acids calledproteins. Proteins, in turn, constitute a main definingelement of all living things. Our DNA is inherited and does not change over time. This study, however, pertained to epigenetics, which arechanges that affect gene activity and expression. These epigenetic activitieschange over time and can be dysregulated in certain ailments. There are different epigenetic mechanisms.

In this study, we studied DNA methylation (a process known to influence gene expression, that is, the quantityof a gene that is translated into a protein)and microRNA activity(short non-coding gene segments that can influence the translation of several hundred different genes).

Comparing patients with hypersexual disorder to healthy volunteers, we identified a DNA methylation sequence to be significantly altered in hypersexual disorder. To ascertain the significance of this finding, the same DNA sequence wasfurther demonstrated to be dysregulated in subjects with alcohol dependence, suggesting it could be primarily associated with the addictive component of hypersexual disorder. The identifiedDNA methylation sequence was associated to a microRNA called (microRNA 4456; MIR4456), and further analysis showed that this DNA methylationsequence influence the quantity of MIR4456 that is produced.Furthermore, in the same study group, we demonstrate that MIR4456 exists in significantly lower quantity in hypersexual disorder as compared to healthy volunteers, strongly suggesting that altered DNA methylation patterns in hypersexual disorder influence and contributes to explaining the observed dysregulation of MIR4456.As microRNA:s theoretically are abletotarget several hundred different genes, we used computer algorithms to reveal that MIR4456 targets genes that arepreferentially expressed in brain and that are involved in major neuronal molecular mechanisms thought to be relevant for HD, e.g., the oxytocin signaling pathway. Our findings merits further research in the role of MIR4456 and especially Oxytocin in hypersexual disorder. Further studies are needed to confirm the role of Oxytocin in HDand to investigate whether treatment with oxytocin antagonist drug therapy could have beneficial effects for patients suffering from hypersexual disorder.

Yet unpublished data intended for a separate follow-up study show a highly significant increase in Oxytocin levels in patients with hypersexual disorder as compared to controls, and a significant reduction in oxytocin levels after Cognitive Behavior Therapy treatment, strongly implying a causal role of Oxytocin in hypersexual disorder andmaking the claims presented in this study much stronger. These preliminary results have been presented as a late breaking poster in Society of Biological Psychiatry meeting in May 2019 and also submitted as a poster in ACNP in December 2019.

Citation:

Adrian E. Bostrm et al, Hypermethylation-associated downregulation of microRNA-4456 in hypersexual disorder with putative influence on oxytocin signalling: A DNA methylation analysis of miRNA genes,Epigenetics(2019).DOI: 10.1080/15592294.2019.1656157

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Epigenetic Changes Linked to Hypersexual Disorder and Addictive Behaviors - MedicalResearch.com

Recommendation and review posted by Bethany Smith

BALTIMORE With violent crime in Baltimore approaching an all-time high, its no secret that much of the malfeasance gripping the city is drug-related. But should law-abiding citizens who apply for a Maryland State Police Handgun Wear and Carry Permit be required to list anxiety, hormone, erectile dysfunction, and breast cancer medications as part of the application process? And what about banking? Should the way you handle your cash invalidate your right to self-protection?

To understand the troubling intimidation factor that intrusive medical and money questions bring to Marylands Wear and Carry Permit application process, we spoke with Post-Examiner contributor Brian Bissett. Bissett is currently appealing his second consecutive restricted Maryland concealed carry permit and has asked the Maryland State Police to open their files as a part of that appeal process.

This is the second part of a two-part interview. The first part of this interview may be found here.

BPE: Your comments in the previous article about the politics surrounding gun legislation were most enlightening. But Id like to get back to the carry permit application process with a couple of oft-asked questions. First, do you have any idea how many gang members annually apply for a carry permit?

Bissett: I have no idea, but I cant imagine it would be many.

BPE: Do you have any numbers on how many felons have attempted to lawfully purchase a gun?

Bissett: No, I dont have any statistics for those things either.

BPE: I realize it may appear that I just set up a couple of straw men for you to knock down, but dont questions such as these help us get around to the thorny issue at hand that is what kind information the State Police should and should not be tracking in the permit process?

Bissett: I believe that they have been tracking all this information for a while, and Ive been told they have a database with all of this information.

Certain information on those applications is what Im looking for.

In fairness to the Maryland State Police, it may not go back as far as I want. But they most certainly have a database for all of this permit information going back the last twenty years.

They could easily query the information Ive requested.

BPE: What sort of information are you requesting?

Bissett: Id like to look at the racial breakdown of approvals and denials, as well as the kind of personal information which has been mined and stored.

One of the things I found troubling when I first went through the permit process is, I was asked on my interview to put down every single prescription drug I am taking.

I was pretty taken aback by that. What if you are a man taking Viagra or a woman taking Avasitin for breast cancer? Should that be included on any sort of application? Come on you could never get a judge to sign a search warrant for that.

Race is one of the questions an applicant must answer on the Maryland State Police Concealed Carry Permit application.

BPE: How does the State Police application on this point compare to what you underwent for a Federal Government security clearance?

Bissett: In the Federal process, they are only allowed to ask a physician one question in regard to mental health: If the person under investigation has a condition that could impair judgment, reliability, or ability to properly safeguard classified national security information?

If the answer is No, no further questions can be asked. If the answer is Yes, only then they may ask additional questions.

Do questions about embarrassing medical or mental health conditions dissuade people from applying for a permit?

The question here is, why arent the Maryland State Police only asking, If the person under investigation has a condition that could impair judgment, reliability, or ability to properly and safely carry a firearm in public?

The fishing expedition of requiring everyone to give personal medical information including all prescription medication they are taking and any mental health diagnosis is in my opinion a violation of HIPAA and done to dissuade and intimidate those with any embarrassing medical or mental health conditions from applying for a permit.

Is it their business if someone has breast cancer, erectile dysfunction, or general anxiety disorder? Quite frankly, its amazing nobody has sued them over this issue.

BPE: Isnt it reasonable, though, to ask if the applicant is on any psychotropic medications?

Bissett: I would say no, in most cases, unless the person has a history of schizophrenia or is bi-polar. People who have some type of mental disorder tend to be victims of violent crime more than they are perpetrators.

Dont get me wrong. I believe that people who have been forcibly institutionalized because they present a danger to themselves probably shouldnt be allowed to obtain a permit. But if you are taking a prescription medication to help you relax when you fly? There they want a note from your doctor, and what doctor can predict a persons mental condition once they leave the office?

Look, people go through problems all of their life. They get divorced; they lose a loved one to death. They may be treated for depression and then they recover. Should an incident such as profound grief mean they should be denied the right to own a firearm in perpetuity?

BPE: Doesnt the Federal Background Instant Check system look at that sort of thing, too?

Bissett: Thats a very difficult question to answer, and the only reason I know this much about it is because Im presently taking a Department of Defense class.

There is not a single database or repository that a law enforcement agency can go to that will necessarily pick up every arrest and/or crime a person may have committed. The records are siloed to a certain degree. Then when it comes to mental health, youre in a whole other ball game, because those records have also been siloed. Then there is HIPPA and the Privacy Act. Most organizations will err on the side of caution because they are potentially liable for millions of dollars if they disclose certain information.

The thing that disturbs me and I know others feel this way as well is that they are effectively ending mental health treatment in this country.

When you have something like the New York Safe Act, where a mental health professional must report anybody who might be a risk, they report everyone, no matter how minute the risk, and that discourages people from seeking the treatment they need.

If you drive people underground, and they dont seek treatment, you create the potential for even greater problems.

BPE: As we are speaking, Baltimore City is quickly approaching the 250 murder mark for the year. Its also gearing up for a major election. Is anyone in the mix for political office there taking a pro-gun or a pro-self defense position?

Bissett: I wouldnt know, to be honest with you, because I dont follow city politics to that degree. The one thing I can tell you is that I often listen to an African-American talk radio station, and whenever the subject of gun ownership comes up, four out of five callers express outrage that they cannot either purchase a firearm or get a permit to carry one.

There are no shooting ranges in Baltimore City. (Wikimedia Commons)

When the state passed the Firearms Safety Act of 2013, they created a process that was much more complicated for your average person to buy a firearm. They have to take a safety course and fire one bullet out of a handgun. But there are no ranges in Baltimore City. So, you are not going to be able to fulfill that requirement using public transportation.

There is a requirement to get fingerprinted, and I dont know how many places do that in Baltimore City. Then there is the requirement to complete the application online using a credit card.

Believe it or not, there is a class of people in this country who do not use credit cards.

BPE: That would bring us back to the hypothetical case of the house-keeper or the carpenter who just deals in cash?

Bissett: Yes. Then they have to use a scanner to enter their documents. Brian Frosh says they can just go to a library, but here you have individuals who are not technically savvy, using equipment which may be on lock-down or not adequately secure. It really puts city residents at a disadvantage to buy a gun, not to mention trying to obtain a carry permit.

BPE: Wouldnt such technical requirements particularly discriminate against African-American and Hispanic city residents?

Bissett: I believe they do. Given everything we have talked about here, African-Americans and Hispanics are much less likely than a white person to be able to navigate the handgun permit process. And yet, they are more likely to be the victim of a crime.

Lets face it: The State Police have created a process that is so intricate, so complicated, so convoluted, that a recent immigrant or an uneducated person doesnt stand a chance.

Maryland Attorney Gen. Brian Frosh.

If you compare a person who went to Harvard to someone who went to Baltimore City Public Schools, the city resident is much less likely to navigate that process.

BPE: Yet the Harvard graduate isnt the one living in a dangerous neighborhood?

Bissett: Exactly, and that is where people like Civil Rights Attorney Dwight Pettit contend that this system is inherently racist.

BPE: You did a pretty thorough job of charting the correlation between strict gun laws and an increase in crime in Baltimore City. Have you looked at other Maryland Counties?

Bissett: I have not because, frankly, getting the numbers together for Baltimore and similar cities was hard enough. I knew Id be crucified for any mistake, and to date, nobody has challenged the validity of the numbers I published in the graphs. Its always been, Well, even though there may be a mathematical correlation, I dont believe this is the cause.

Thats the reason I went through the Bradford-Hill causality theorem. It shows that, more likely than not, restricting an honest persons access to a firearm is going to result in more crime. By restricting I mean going beyond checking a persons background at the point of the sale.

I support the instant background checks, which determine that this person is who they say they are; that this person is not a felon, and is qualified to own a gun. However, I dont think that stops anyone who wants to own a gun from obtaining a gun. What it does do is it prevents them from getting the gun as quickly as theyd like to. But thats a topic for another conversation.

BPE: Where are Americans today on the right to carry?

Bissett: Well, following the Florida example, weve gone from states enacting Shall Issue laws to the Constitutional Carry which means you dont need a permit to carry your firearm as long as you are a law-abiding citizen. I believe there are now thirteen states which allow you to strap it on your hip. They said the same thing about that that they did about concealed carry permits, but by and large that hasnt happened.

BPE: So, in your opinion, Maryland lags behind on idea of a Constitutional Right to carry?

Bissett: I believe the county is moving in that direction. And not just conservatives.

I have a good friend at work, and his wife has been a social worker in Baltimore City for the past 25 years. Interestingly enough, this guy is very liberal, but he and I are very good friends.

I put this friend down as a reference, when I applied for my carry permit. I was later told that when the investigator called him, he said, Let me be perfectly clear: I dont like guns, I dont own guns, I dont believe in guns. And I think the world would be a better place if there were no guns. But if anybody should be carrying a gun, its this guy.

BPE: Wow!

Bissett: Yeah, the investigator said he had never heard a reference like that before. Anyway, as I said, this mans wife has been a social worker for a long time in Baltimore City. She works with a lot of disadvantaged youth, and they have all told her the same. If youd like a gun, I can have one for you in an hour.

BPE: What does it cost to buy such a handgun in Baltimore City?

Bissett: She said the answer from all of them is also the same. That depends on how many people have been killed with it. If no one has been killed with the gun, then thats a clean gun. Those guns cost top dollar. The more crimes that can be tied to a gun, the cheaper it becomes.

(This is the second part of a two-part interview. The first part may be found here.)

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Concealed Carry: Does Maryland State Police Need to Know if Permit Applicant is Taking Viagra? - Baltimore Post-Examiner

Recommendation and review posted by Bethany Smith

Three new animal-model tests of a potential gene therapyfor oculopharyngeal muscular dystrophy (OPMD), known as BB-301, are planned, Benitec Biopharmaannounced. Results are expected tosupport a request for a Phase 1 clinical trial in patients.

OPMD results from a faulty PABPN1 gene, leading to a protein that can form insoluble clumps linked with muscle weakness.

BB-301 uses a DNA-directedRNA interference(ddRNAi) strategy. Delivered via a modified, harmless adeno-associated virus (AAV), the therapy is intended to silence and replace the mutant protein. It suppresses its production and provides a source of normal, or wild-type, protein to target cells.

A 2017 study showedthat this approach significantly reduced the amount of PABPN1 aggregates, restored muscle strength and eased muscle fibrosis (scarring) in mice. Subsequent experiments in cells from OPMD patients confirmed these results.

The preclinical research, to be conducted in a canine disease model, will help to optimize methods of administration, confirm the efficiency of the AAV vector in introducing a healthy gene into key muscle cells, assess optimal dosing, and further characterize toxicological data necessary for regulatory filings and clinical trial design.

According to the company, these three planned dog studies will support the submission of an Investigational New Drug (IND) application, an essential step in getting regulatory approval to start the trial. Pre-IND application meetings with the U.S. Food and Drug Administration (FDA), the European Medicines Agency (EMA) and Health Canada took place in 2017.

Through our continued focus on BB-301 for the treatment of [OPMD], our team has an unprecedented opportunity to develop a novel genetic medicine that could facilitate clinically meaningful patient benefit, Jerel A. Banks, MD, PhD, Benitecs executive chairman and CEO, said in a press release.

The preclinical studies will be done in partnership with a medicine and surgery team with several decades of experience in OPMD treatment, Benitec added.

The FDA granted orphan drug status to BB-301 as a potential OPMD treatment in January 2018. The EMA awarded it similar status in early 2017.

Jos is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimers disease.

Total Posts: 307

Margarida graduated with a BS in Health Sciences from the University of Lisbon and a MSc in Biotechnology from Instituto Superior Tcnico (IST-UL). She worked as a molecular biologist research associate at a Cambridge UK-based biotech company that discovers and develops therapeutic, fully human monoclonal antibodies.

Read more from the original source:
Final Tests Planned into Potential OCMD Gene Therapy, Could Support Trial in Patients - Muscular Dystrophy News

Recommendation and review posted by Bethany Smith

RESEARCH TRIANGLE PARK Pfizer is investing $19 million to create a new gene therapy production facility in RTP and could add up to 120 scientists and staff to operate it.

Information provided by Pfizer on Thursday says the company will move operations from a related facility in Chapel Hill that it acquired as part of a deal to buy Bamboo Therapeutics in 2016.

The new location is near the intersection of I-40 and I-540 in RTP.

According to the drug giant, an existing building will be retrofitted to accommodate production. It will provide facilities for drug substances, and related products as well as testing labs.

The news follows the recent announcement that Pfizer would invest $500 million and add some 300 jobs related to gene therapy at its campus in Sanford.

Construction will begin in 2020 with completion expected in 2022.

Pfizer adding 300 jobs, investing $500M at Sanford campus

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Pfizer to build gene therapy facility in RTP, could add up to 120 scientists, staff - WRAL Tech Wire

Recommendation and review posted by Bethany Smith

Until the day she dies, Sandy Morris is hunting for a comma and a clause.

In May 2018, the 53-year-old mother of three learned she has ALS, a diagnosis made even more devastating by a somber directive to get her affairs in order period. The finality speaks to the absence of an effective treatment, yet alone a cure, for the neurodegenerative disease also known as Lou Gehrig's disease.

Since the diagnosis, Morris has sought to give future ALS patients some measure of optimism, amending the 'get your affairs in order' instruction to add 'but, there's something worth looking into.' While medical advances in areas like gene therapy show potential to change the course of other potentially fatal diseases, a disease-modifying treatment in ALS has proved elusive.

"In cancer, you have a shot," Morris said in an interview. "Not always a great shot, but you have one. In this land, everybody is just like, 'We don't have anything.'"

But now, Morris said she has reason for hope, stemming from a first-of-its-kind study in ALS that will test five experimental drugs simultaneously in a platform trial. Five drugmakers selected for the trial were announced last week.

After years of work, the broader promise of these adaptive trials, which allow more flexibility to make changes throughout, is beginning to be put into action. This trial aims to accelerate the pace of ALS research and may prove to be a template for other rare diseases as well, experts said.

The design offers advantages for each key stakeholder in drug development: patients have a lower probability of receiving placebo due to the study's shared control arm; companies get quicker topline results at lower cost; and researchers talk of the study as an "endpoint engine" that could advance their scientific understanding of the disease.

Formidable challenges remain in the way of broader adoption, particularly among leaders of the drug industry. The ALS study uses experimental treatments from small biotechs instead of industry giants, which can afford to prioritize control and pay for their own studies instead.

Even so, it's an exciting advancement in ALS research. Morris, who is also a leader of the patient group I Am ALS, said the trial can bring hope to future patients, even if it comes too late to help her.

"It's not going to save me. I'm not in time for any of this," Morris said. "But, dammit, we have to make it better for the rest."

Merit Cudkowicz understands speed. After 25 years specializing in ALS research, Cudkowicz is fully aware of how ALS changes a patient's life, shortening their life expectancy from decades to just years. The disease has a roughly three-year median survival.

Merit Cudkowicz

Massachusetts General Hospital

That life-changing diagnosis came in May 2018 for Sean Healey, then the CEO of an asset management firm worth more than $8 billion. After resigning from that post, Healey connected with Cudkowicz as he searched for treatment options and realized there was an opportunity to accelerate the pace of research.

Just six months from his diagnosis, Healey raised $40 million to launch a research center at Massachusetts General Hospital. Now, slightly less than a year after being established, the Sean M. Healey & AMG Center for ALS Research is aiming to start the platform trial in the first few months of 2020.

And earlier this month, the Healey Center announced the first five therapies to be tested in the study, including drugs from Biohaven Pharmaceutical and Ra Pharmaceuticals.

Cudkowicz, who leads the study, as well as the Healey Center and Mass General's neurology department, said in an interview the trial aims to have 160 patients for each of five treatments. The primary outcome will be whether or not the drug boosted a functional rating score for ALS after six months. One placebo group will be shared for all treatment arms, and more drugs can be added as the study continues. (Cudkowicz cautioned the plan is nearing finalization with the Food and Drug Administration, so specifics could still change.)

Moving quickly is the trial's aim. Cudkowicz called the study "an endpoint engine" that can help create better outcome measurements, including future surrogate markets, pushing ALS research forward. She estimated topline results to come 12 to 18 months after the study begins, depending on enrollment speed.

But those goals are steps toward the actual mission: developing a cure, Healey wrote in an email to BioPharma Dive.

"Of course, we all understand that the most meaningful measure of success will be the development of effective treatments and ultimately a cure," Healey wrote. "I am convinced that the Platform Trial, along with other initiatives we are supporting, will substantially accelerate the achievement of this ultimate goal."

For the first five biotechs, the decision to participate was a no-brainer. The center and other groups are footing the majority of the cost, leaving the companies' primary expense to simply provide their drug.

Out of about 30 applicants, the Healey Center selected five drugs for the study, most notably Biohaven's verdiperstat and Ra Pharma's zilucoplan. The trial also will test therapies from Implicit Bioscience, Prilenia Therapeutics and Clene Nanomedicine.

Cudkowicz said the typical applicants were small biotechs that "have great ideas but not deep pockets."

The expense of clinical trials limits the ability for biotechs to run multiple studies simultaneously across a range of indications. Instead, companies typically focus on a lead indication, with others following in succession.

"As a small company, we live and die by being able to run efficiently and test our hypotheses," said Irfan Qureshi, Biohaven's vice president of neurology.

For instance, Biohaven's verdiperstat is in Phase 3 testing for multiple system atrophy, and Ra Pharma's zilucoplan is focused on a different neuromuscular disorder called generalized myasthenia gravis.

"We wanted to do the study anyway, but to be honest, we probably wouldn't have gotten to it for years if this had not come along," Ra Pharma CEO Doug Treco said in an interview.

While smaller biotechs have bought into the platform trial and its efficiencies, missing from the list of initial participants are industry leaders. With a market value of about $2 billion, Biohaven is the largest company involved.

Cudkowicz noted larger drugmakers have shown interest in roundtable discussions that shaped the trial's design, and there's always potential to add additional therapies after the trial starts.

"We're talking to the other ones like Biogen and Sanofi," she said. "They are interested and came to these meetings, but they have the money to do it on their own."

But the main hang-up for these companies is ceding control, said Scott Berry, a senior statistical scientist and co-founder of Berry Consultants, which worked on the ALS platform trial.

"All these companies have people that this is what they do for a living they run trials, and they know how to do it," Berry said. "To hand your drug to somebody else and you don't have control over making sure that happens is uncomfortable for companies, and it's different than what they usually do."

Additionally, with lengthy protocols and many moving parts, the trials are complex and typically require extensive consulting to get off the ground. Running a multi-arm study also brings statistical pitfalls that can make it harder to interpret results.

Beyond ALS, adaptive trials have been started in breast cancer, Alzheimer's disease and glioblastoma. Experts say they anticipate other rare diseases as logical future targets for these studies.

"As these start to get developed and people see them, in most rare diseases there will be people jumping on board," predicted Berry.

Biohaven's Qureshi added that once companies are willing to experiment beyond typical drug development, these trials could be particularly attractive for rare diseases by easing enrollment concerns where there are "not patients growing on trees," he said.

But the ultimate test to get the industry's full attention, Qureshi said, would be such a study yielding an approved drug.

In the meantime, platform trials appear here to stay. Janet Woodcock, the long-time leader of the FDA's drug review center, has been an influential supporter for these study designs. Just this month, the agency finalized guidance on ALS research that advised companies to consider adaptive trial designs.

Earlier this year, Woodcock told BioPharma Dive she believes these types of studies will gain ground as patients become more vocal about how trials are conducted.

Morris said the platform trial has struck her with its compassion. While no patient wants to be put on placebo, it's of particular importance in a disease that progresses as rapidly and severely as ALS, leaving most patients the time to try one study in their life.

She already took her shot, enrolling in a clinical trial that required a three-month observation period before receiving treatment, which then carried a 50% chance of being placebo. "We are humans," she said. "We aren't zebrafish."

Now, she wants to take the baton from "the voices in the graveyard" and pass it onto the next generation. Platform trials may allow her to cover a bit more ground before that hand-off, eventually reaching a day when people might be able to live with ALS, like HIV.

"ALS's day is coming," Morris said.

See the article here:
First-of-its-kind trial in ALS spurs hope for brutal disease - BioPharma Dive

Recommendation and review posted by Bethany Smith

Modern retroviral therapies have done a good job of turning HIV/AIDS into a treatable chronic illness, but except in a few rare experimental cases using stem cell transplants, there is no cure. Cure, in this case, meaning that the HIV virus is completely eradicated in the patient. Retroviral therapies cause the virus to become inactive, but they still remain in the body and may potentially reactivate if treatment ends.

Researchers at the University of California, San Diego (UCSD) School of Medicine have now identified a key switch that has the potential to eliminate dormant HIV reservoirs. They published their research in the journal mBio.

This is one of the key switches that the HIV field has been searching for three decades to find, said Tariq Rana, professor of pediatrics and genetics at UCSF. The most exciting part of this discovery has not been seen before. By genetically modifying a long noncoding RNA, we prevent HIV recurrence in T-cells and microglia upon cessation of antiretroviral treatment, suggesting that we have a potential therapeutic target to eradicate HIV and AIDS.

Rana and fellow researchers utilized genome-wide expression analysis of long noncoding RNA (lncRNA) in specialized immune cells called macrophages that had been infected with HIV. Macrophages promote inflammation, stimulate the immune system and remove foreign matter. Usually, lncRNAs dont behave the way other RNAs do, which is to say, RNAs deliver DNA codes for proteins. The lncRNAs are involved in controlling which genes are switched on or off in a cell.

The researchers focused on a single lncRNA called HIV-1 Enhanced LncRNA (HEAL) that is found in higher amounts in HIV patients. The researchers believe this is a recently emerged gene that regulates HIV replication in immune cells, including macrophages, microglia and T-cells.

They ran experiments that silenced HEAL or removed it using CRISPR-Cas9 gene editing, which resulted in HIV no longer recurring when antiretroviral treatment was halted. The researchers expect to continue to confirm the data in animal models.

Our results suggest that HEAL plays a critical role in HIV pathogenesis, Rana said. Further studies are needed to explain the mechanism that leads to HEAL expression after an individual is infected by HIV, but this finding could be exploited as a therapeutic target.

This appears to be a major finding, but there have been others recently as well. In August, researchers from the University of Texas Medical Branch at Galveston discovered that the protein BRD4 has a significant role in regulating the production of new copies of the HIV gene. The research group, led by Haitao Hu, assistant professor of microbiology and immunology, designed, synthesized and studied several small molecules to selectively program BRD4 to suppress HIV. They then picked a lead compound, ZL-580, which significantly delayed the reactivation of dormant HIV after antiretroviral therapy was halted.

Like the research published by the UCSD team, this appears to have the potential to be a drug therapy to eradicate the virus, or at least better deal with resistant strains of the disease.

HIV still affects about 37 million people worldwide and approximately 1 million people die annually from HIV-related causes. Treatment typically involves a cocktail of antiretroviral therapy which HIV patients take their entire lives.

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New Research Suggests a Cure for HIV Could be on the Horizon - BioSpace

Recommendation and review posted by Bethany Smith

WASHINGTON--(BUSINESS WIRE)--Greenleaf Health, Inc., a leading Food and Drug Administration (FDA) regulatory consulting firm, today announces that the firm has expanded its portfolio of services to guide companies developing cell and gene therapy products. Greenleafs team of regulatory experts will be led by Karen Midthun, M.D., former Director of the FDAs Center for Biologics Evaluation and Research (CBER), and John Taylor, former FDA Counselor to the Commissioner and Principal Deputy Commissioner.

REGULATORY LANDSCAPE: Cell & Gene Therapy

The rapidly evolving fields of cell and gene therapy offer the possibility of novel treatments, and perhaps ultimately cures, for devastating and intractable illnesses. In response to what the FDA has called a "turning point in the development of these technologies and their application to human health, new policies have been introduced to address the development of safe and effective cell and gene therapies.

With innovation often comes uncertainty. In the case of cell and gene therapy products, the FDA has raised concerns about developers operating outside of the existing regulatory paradigm. To prevent this, the FDA has clarified the regulatory framework for regenerative medicine products and announced near-term enforcement actions aimed at ensuring compliance by companies developing and manufacturing cell and gene therapies.

Greenleafs expanded services support companies striving to introduce cell and gene therapy products to patients. The firms team of experts has a robust blend of technical skill and FDA institutional knowledge that spans all therapeutic areas and quality, manufacturing, and compliance systems. By working cross-functionally, Greenleaf ensures that clients have the comprehensive, specialized support needed to understand and navigate the complex regulatory landscape for cell and gene therapies.

FULL-SERVICE SUPPORT

Members of Greenleafs Drug and Biological Products Team work together with the firms Product Quality, Manufacturing, and Compliance Team to deliver guidance on cell and gene therapy products.

Product Development & Review

With the expert direction of Karen Midthun, M.D., Greenleafs team of advisors assists sponsors of cell and gene therapies by optimizing FDA interactions and submissions to support development and regulatory review. Greenleaf also helps sponsors understand and respond to the FDA requirements applicable to various cellular products, and provides guidance to sponsors of cell and gene therapies to treat rare and ultra-rare diseases on ways to maximize trial design using appropriate clinical endpoints and natural history study data to aid efficient product development.

Quality, Manufacturing & Compliance

Greenleafs Product Quality, Manufacturing, and Compliance Team, led by John Taylor and supported by the firms network of independent compliance experts, offers credible, informed guidance to help manufacturers of cell and gene therapies comply with the FDAs multiple current GXP regulations. Greenleaf experts provide strategic and technical support for establishing manufacturing and quality controls; pre- and postapproval inspection readiness; compliance assessments; evaluating and responding to FDA regulatory correspondence; and engaging with CBERs Advanced Technologies Team.

UNMATCHED EXPERTISE

Greenleaf is comprised of experts with a combined total of more than 250 years of FDA experience. The firms team of advisors demonstrates unmatched levels of skill in its specialties of drug and biological products and product quality, manufacturing, and compliance. Greenleafs Cell and Gene Therapy Team, led by Dr. Karen Midthun and John Taylor, is guided by decades of regulatory experience in senior FDA positions, global public health organizations, academia, and industry.

Karen Midthun, M.D.Principal, Drug & Biological Products

Dr. Midthun contributes specialized insight informed by her regulatory, research, and clinical experience to FDA-regulated entities developing cell and gene therapies. Dr. Midthun joined Greenleaf following a distinguished 28-year career in public health, of which 22 years were dedicated to the FDA.

An infectious disease physician by training, Dr. Midthun most recently served as the Director of the FDAs Center for Biologics Evaluation and Research (CBER). During her FDA tenure, Dr. Midthun played a critical role in facilitating policy and technology development in the areas of cell, tissue, and gene therapies, blood products, and vaccines.

John Taylor, J.D.President, Greenleaf Health, and Principal, Compliance & Regulatory Affairs

Taylor has held many high-profile positions at the FDA, as well as senior leadership roles within industry. Taylors wealth of regulatory experience, robust technical skills, and unique strategic perspective are unmatched. Clients working with Greenleafs Product Quality, Manufacturing, and Compliance Team benefit from Taylors vast FDA institutional knowledge.

Taylor joined Greenleaf following a distinguished 20-year career at the FDA, where he served in multiple leadership positions, including as the FDAs Acting Deputy Principal Commissioner, FDA Counselor to the Commissioner, Acting Deputy Commissioner for Global Regulatory Operations and Policy, and Associate Commissioner for Regulatory Affairs.

ABOUT GREENLEAF

Greenleaf Health provides strategic and technical guidance to pharmaceutical, biotechnology, and medical device companies researching, developing, and manufacturing innovative solutions to pressing global public health challenges.

The firm includes former leaders and regulatory professionals from the FDA, Capitol Hill, top global pharmaceutical and medical device companies, leading law firms, and the top U.S. biotechnology trade organization. Greenleafs blend of former FDA officials and industry experts provides a unique set of capabilities when advising entities regulated by the FDA.

For more information on Greenleafs cell and gene therapy services and Greenleaf Health, visit greenleafhealth.com.

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Greenleaf Health Expands Services to Support Cell & Gene Therapy - Business Wire

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