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For Immediate Release

Chicago, IL October 15, 2021 Zacks.com announces the list of stocks featured in the Analyst Blog. Every day the Zacks Equity Research analysts discuss the latest news and events impacting stocks and the financial markets. Stocks recently featured in the blog include: CRISPR Therapeutics AG CRSP, Editas Medicine, Inc. EDIT, Sarepta Therapeutics, Inc. SRPT and Beam Therapeutics Inc. BEAM.

Gene therapy is one of the novel mechanisms of treatment that is attracting several large and small pharma companies. The gene therapies treat a disease by altering or turning off problematic genes and adding genes that help to fight or treat a disease. Scientists have been investigating ways to modify genes or replace faulty genes for the last few decades with a few gene therapies already in the market. Gene therapy is set to become one of the most vital spaces with high prospects in the biotech sector.

These therapies provide the flexibility to develop one-time treatment options for genetic or inherited diseases with limited or no approved therapies available. Moreover, gene-editing can directly affect cells the basic building blocks of living things and may help in developing highly effective therapies.

There are already a few FDA-approved gene therapies targeting different difficult indications. In a historic move, the FDA approved the first gene therapy, Novartis Kymriah, for treating acute lymphoblastic leukemia in 2017. This was followed by the FDA approval of two more gene therapies Gileads Yescarta and Roches Luxturna for oncology and eye disorder indications, respectively, in the same year.

The FDA approved two new gene therapies, Bristol-Myers Breyanzi and Abecma for treating different cancer indications, earlier in 2021. The majority of approved gene therapies have shown strong sales growth since their approval.

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Given the potential of gene therapies to treat complex diseases, the companies developing candidates using gene therapy that are a mix of large and small firms, are in focus. A successful medicine developed by any of these companies can generate annual revenues of $1 billion or more. Here we discuss four biotech stocks with promising gene therapy candidates in their pipeline.

CRISPR Therapeutics

The company is developing its lead pipeline candidate, CTX001, in collaboration with Vertex Pharmaceuticals in mid-stage studies as a potential treatment for transfusion-dependent beta thalassemia and sickle cell disease. The gene-editing therapy candidate previously demonstrated a consistent and sustained response to treatment in the given patient population in an ongoing phase I/II study.

CRISPR Therapeutics is actively seeking collaborations and leveraging its CRISPR/Cas9 gene-editing platform to make therapies for hemoglobinopathies, cancer, diabetes and other diseases.

Editas Medicine

The companys lead pipeline candidate is EDIT-101, which employs CRISPR gene editing to treat LCA10 a rare genetic illness that causes blindness. Editas is currently enrolling in the first pediatric cohort of the phase I/II BRILLIANCE study, which is evaluating EDIT-101 for LCA10. Editas is also pursuing the development of CRISPR candidates for eye diseases other than LCA10 including Usher Syndrome type 2A and recurrent ocular Herpes Simplex Virus type 1.

It is also designing novel medicines for non-malignant hematologic diseases, such as SCD and beta-thalassemia.

Sarepta Therapeutics

Sareptas lead gene therapy candidate is SRP-9001, an AAV-mediated micro-dystrophin gene therapy. The company initiated a pivotal clinical study earlier this year to evaluate it as a one-time treatment for Duchenne muscular dystrophy patients. The promising candidate has also led Roche to sign a collaboration deal with Sarepta.

The company plans to seek FDAs approval to start a pivotal study on its other gene therapy candidate, SRP-9003, in 2021 to evaluate it in patients with Limb-girdle muscular dystrophy (LGMD) type 2E. The company has several other pre-clinical and clinical-stage gene therapy candidates targeting additional indications like Rett Syndrome, cardiomyopathy, Emery-Dreifuss muscular dystrophy type 1, and multiple sclerosis.

Beam Therapeutics

The company has two pre-clinical gene editing candidates, BEAM-101 and BEAM-102, in its pipeline that are being developed as potential treatments for SCD. The company plans to file an investigational new drug application to the FDA seeking approval to start a clinical study on BEAM-101 in the second half of 2021.

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Want the latest recommendations from Zacks Investment Research? Today, you can download 7 Best Stocks for the Next 30 Days. Click to get this free reportBeam Therapeutics Inc. (BEAM) : Free Stock Analysis ReportSarepta Therapeutics, Inc. (SRPT) : Free Stock Analysis ReportEditas Medicine, Inc. (EDIT) : Free Stock Analysis ReportCRISPR Therapeutics AG (CRSP) : Free Stock Analysis ReportTo read this article on Zacks.com click here.Zacks Investment Research

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The Zacks Analyst Blog Highlights: CRISPR Therapeutics, Editas Medicine, Sarepta Therapeutics and Beam Therapeutics - Yahoo Finance

Isolating a risk factor for Alzheimers disease

The federally funded research focused its analysis on a specific population: those with a genetic variant known as APOE4. While scientists dont fully understand what causes Alzheimers disease, they do know some people are more likely than others to develop it based on their genetic makeup.

The APOE gene in particular is involved in making a protein that helps carry cholesterol and other types of fat in the bloodstream. It comes in at least three different variations, and one of them, called APOE4, increases a persons risk for Alzheimers. While not everyone who carries APOE4 gets Alzheimers, an estimated 40 to 65 percent of those diagnosed with the disease have at least one copy of the gene variation (also called an allele), according to the Alzheimers Association.

For the study, the team of researchers first examined changes that take place over time in brain tissue samples of people with APOE4. Then they combed through a database of nearly 1,300 federally approved drugs in search of candidates to potentially reverse such gene-related changes. Bumetanide, which was approved by the U.S. Food and Drug Administration (FDA) decades ago, emerged as the strongest contender.

When the research team gave bumetanide to mice that were engineered to have two copies of the human APOE4 gene, they found that the drug helped reduce deficits in learning and memory. The drugs counteracting effects were also seen in neurons derived from skin cells of Alzheimers patients carrying the APOE4 gene.

Data from thousands of health records gave the researchers even more confidence in bumetanides potential effect on Alzheimers disease, says study coauthor Yadong Huang, M.D., director of the Center for Translational Advancement at Gladstone Institutes and a professor of neurology and pathology at the University of California, San Francisco. An analysis showed that adults 65 and older who took bumetanide were 35 to 75 percent less likely to be diagnosed with Alzheimers disease than those who took another diuretic.

Our next step, of course, will [be to] move to the real clinical trial to test the efficacy of bumetanide directly in Alzheimer's patients, says Huang, who is hopeful that these trials could start as early as next year.

As theyre based on a specific at-risk population, the teams findings lend support to a treatment approach called precision medicine, which has grown increasingly popular inAlzheimers research. It veers from a one-size-fits-all model and considers individual differences in environment, lifestyle and genetics indrug development and treatment decisions.

The traditional drug development approach for Alzheimers disease has been focusing on one protein, one gene or one cellular pathway, Huang says. The assumption for many years has been that we may find a magic bullet that will fit every Alzheimer's disease patient.

Now, experts increasingly say the answer to ending Alzheimers probably doesnt lie in a single drug or therapy. Tackling the disease will likely require specific types of treatments, perhaps multiple therapies, including some that may target an individuals unique genetic and disease characteristics much like cancer treatments that are available today, Jean Yuan, M.D., a program director in the NIAs Division of Neuroscience, said in a statement.

A major reason: The disease cant be pinned to one cause, at least in most people. Experts say it's likely due to a combination of age-related changes in the brain, along with genetic, environmental andlifestyle factors.

If you look at Alzheimer's-disease patients on the surface, they all have dementia, but their underlying molecular or cellular mechanisms might not be exactly the same, Huang says. Breaking down the patient population into subgroups, such as genetic risk, could be a more effective way to study potential treatments, he argues.

Theres also a plus to exploring new uses for old drugs that already have a proven track record for safety a strategy known as drug repurposing. Finding one that works could cut years off the time it typically takes to get a treatment from clinical trials to patient use.

Combining so-called precision medicine with drug repurposing and with real-world data analysis will help us dramatically speed up drug development targeting those aging-related complex diseases, Huang says.

So far only a handful of drugs have been approved by the FDA for Alzheimers disease, and most just help to briefly manage symptoms of the illness, which afflicts more than 6 million Americans. Earlier this year, the agencygranted approvalto a drug the first of its kind that may slow the progression of the disease. However, the medication hasnt yet been proven to alter symptoms or outcomes of Alzheimers, such as the advancement of cognitive decline and dementia, according to the NIA.

Rachel Nania writes about health care and health policy for AARP. Previously she was a reporter and editor for WTOP Radio in Washington, D.C. A recipient of a Gracie Award and a regional Edward R. Murrow Award, she also participated in a dementia fellowship with the National Press Foundation.

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Could an Old Drug Be a New Alzheimers Treatment? - AARP

Gene therapy represents a new generation of medicine that shows great promise in the fight against rare genetic diseases. The potential long-term transformative benefits could reduce, or even eliminate the ongoing costs of supporting patients and managing diseases. In this conversation, thought leaders will discuss the promise of gene therapy, how policy makers are responding, and what obstacles stand in the way of wide-spread gene therapy treatments.

Date: Thursday, Oct. 21st, 2021

Time: 12:00 1:00pm PDT

Panelists:

Jennifer Hodgeis the US Rare Neurology Medical Team Lead at Pfizer. Over the past 9 years, she has contributed in roles of increasing responsibility across Early Pipeline/Gene Therapy, Sickle Cell Disease, Hemophilia and I&I where she played an important role in the US & EU launches of XELJANZ for Rheumatoid arthritis. She received her PhD in Immunology and completed two Post-Doctoral Fellowships at Harvard Medical School & the Yale University School of Medicine.

Carolina Sommer is the Founder of the Northwest Rare Disease Coalition, Founder of the Seattle Rare Disease Fair, Co-Founder of the ABC Kind Program, and Author of the Lucys Journey books. She is also a member of the Rare Disease Access Working Group with EveryLife Foundation, We Work for Health, Voters for Cures, and the WA Health Access Network.

Ryan Fischer serves as the Chief Advocacy Officer for Parent Project Muscular Dystrophy and has been with the organization for 16 years. Within PPMD, Ryan oversees patient advocacy, patient-focused drug development initiatives including patient-preference research, and the strategic development of the largest patient reported registry in Duchenne developed by PPMD, The Duchenne Registry.

Read the rest here:
5 Slides: Gene therapy and the promise for rare disease - State of Reform - State of Reform

Harvard University and National Resilience, Inc. (Resilience), a manufacturing and technology company, have established a five-year R&D alliance with a $30 million commitment from Resilience directed toward the development of complex medicines, including biologics, vaccines, nucleic acids, and cell and gene therapies.

Under the alliance agreement coordinated by Harvards Office of Technology Development (OTD), Resilience will fund faculty-initiated research focused on certain novel therapeutic and biomanufacturing technologies pioneered in University labs. The alliance also anticipates that these Harvard innovations may be commercially advanced by new companies formed by Resilience expressly to drive these technologies into clinical development and commercialization.

An initial technology platform has already been identified for incubation under the alliance, with promising applications in skeletal muscle disorders. In the Harvard lab of Lee Rubin, professor of Stem Cell and Regenerative Biology, researchers have developed a means to culture millions of cells in vitro that behave like skeletal muscle stem cells (satellite cells), retaining their regenerative potential, for use in possible cell therapies. Resilience is now funding the labs continuing work on the platform, aiming to further validate it, in a project led by staff scientist Feodor Price.

Meanwhile, Resilience has formed an entity called Circle Therapeutics, anticipating that Circle may carry the technology forward under license.

For six decades since the discovery of the satellite cell, it has not been possible to expand therapeutic numbers of satellite cells in vitro, until we made real headway on it at Harvard, said Rubin. Were truly excited for the possible therapeutic impact of our innovations.

Our mission at Resilience is to make a new generation of complex medicines, such as curative gene therapies, life-saving vaccines and immune-system-boosting cell therapies, more accessible to people in need, said Rahul Singhvi, chief executive officer of Resilience. Current biomanufacturing processes pose significant hurdles to making these medicines quickly, and at scale, which is why we are excited to work with researchers at Harvard to identify and develop the technologies needed to make this future a reality.

The Rubin Labs platform to expand and maintain in vitro-derived satellite cells could lead to transformative cell therapies, said Vivian Berlin, executive director, HMS, at Harvard OTD, who leads OTDs Corporate Alliances team. With prior support from the Blavatnik Biomedical Accelerator, the team has compellingly demonstrated the clinical relevance of this work. Now with Resiliences focused funding and experience in the development of complex medicines, we hope to set it on a clear path toward benefiting patients.

Going forward, Resilience and Harvard will jointly issue a call for proposals to identify additional research projects to be funded at Harvard. Under the terms of the alliance, Resilience will receive an option to license technologies arising from funded projects.

This research alliance with Resilience will help support biomedical innovation at Harvard, said Isaac Kohlberg, Harvards chief technology development officer and senior associate provost. Collaborating to both advance Harvard science and place arising technologies with dedicated new ventures, we can provide yet another valuable source of support and industry expertise to translational biomedical researchers across Harvards Schools as they seek to impact human health for the better.

See the article here:
Harvard's R&D alliance with Resilience to advance manufacture of complex medicines - Harvard Gazette

Jim Streiff is a military veteran who received a MyChart message one day from Sanford Health that notified him of an opportunity to participate in a genetic screening test.

A test offered through Sanford Imagenetics costs $49, a fee that is waived for veterans like Streiff. The test can potentially add insight into how people respond to certain medications, in addition to assessing risk for certain genetic diseases.

Streiff explained the screening to his family and then scheduled the test, which amounted to a blood draw and a conversation with a Sanford geneticist.

I figured they wanted me to get the test because I was either the descendant of kings or goat thieves, Streiff joked.

Get started: Genetic testing at Sanford Health

More seriously, he thought about his own health issues after receiving the email. Streiff is diabetic and also deals with low platelet counts in his blood. It would be beneficial, he decided, to participate in the screening because it could give providers more information in prescribing his medications through pharmacogenomics, which is the study of your genes and your drug response.

Though Streiff would eventually discover he did not need to alter his medicines, it is very common for those taking the test to find out their genes are indeed a factor in medication effectiveness.

The decision to get the screening remained a life-altering decision nevertheless.

I was able to sit down with a geneticist and we discussed what they found, Streiff said. They discovered I had Lynch syndrome, which Id never heard of. Its a defect in one of the genes that gets passed down from generation to generation.

Lynch syndrome makes people more susceptible to certain types of cancer. In Streiffs case, it helped explain some of his familys health issues. His father had six siblings die of the kinds of cancer where this syndrome could be a possible contributing factor. In addition, he lost a first cousin to cancer.

Streiff was a perfect patient for a genetic test designed to screen or identify potential risk that he might be predisposed to because he was unaware of Lynch syndrome, says Alexander Van Gerrevink, Imagenetics education program specialist. He said most people who take the test do not discover they have an actionable result such as genetic cancer or heart conditions.

After notifying all his first cousins of his screening results, Streiff went to work on making sure his second cousins were also aware. Some of them had the same trait as well. The information reached relatives, some of them distant relatives, from all over the country.

It has changed the whole mindset of my family, Streiff said. My children are getting certain procedures or tests more often and earlier in life than they would otherwise because they understand there is a greater risk. My grandchildren will do the same when theyre old enough. My cousins are also talking to their geneticists and getting tested to see if this gene runs through their families. It has changed a lot of lives just doing this one simple test.

Streiff has absorbed enough of the science behind his screening to be able to explain the basics to others who do not have a medical background and know little about the benefits of genetic testing. He can thank the Imagenetics staff for that.

They did a great job of explaining it when I met with them, Streiff said. My screening results were communicated in a very straightforward way that will make it easy to make future decisions.

The result is that he can have conversations with friends about how his decision helped him and his family.

People should not be afraid to participate, Streiff said. Its a very simple process and it can supply you with a tremendous amount of information. The people helping you are very knowledgeable and very caring. It made me think about wishing Id had this information 10 or 20 years ago. I think some of my aunts and uncles and cousins who are gone would still be here today.

Posted In Cancer, Genetics, Internal Medicine, Veterans

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Genetic screening test leads to discovery of a family trait - Sanford Health News

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CAMBRIDGE, Mass., Oct. 15, 2021 (GLOBE NEWSWIRE) -- Generation Bio Co. (Nasdaq: GBIO), a biotechnology company innovating genetic medicines for people living with rare and prevalent diseases, today announced an oral presentation at the European Society of Gene and Cell Therapy (ESGCT) Annual Virtual Congress taking place October 19-22. The presentation will highlight preclinical advances from the companys retina therapeutic area.

We are excited to share our preclinical data demonstrating broad access to key cell types with our lipid nanoparticle developed for the retina, said Matthew Stanton, Ph.D., chief scientific officer of Generation Bio. Many inherited retinal diseases remain out of reach for viral-based gene therapies due to limited cargo capacity. We believe our non-viral delivery technology could overcome this barrier and expand the potential of our genetic medicine platform to treat more diseases.

The presentation will be streamed online for registered attendees on October 22, and a recording of the presentation will be made available for attendees for 30 days following the event.

Generation Bio will present:

About Generation BioGeneration Bio is innovating genetic medicines to provide durable, redosable treatments for people living with rare and prevalent diseases. The companys non-viral genetic medicine platform incorporates a novel DNA construct called closed-ended DNA, or ceDNA; a unique cell-targeted lipid nanoparticle delivery system, or ctLNP; and a highly scalable capsid-free manufacturing process that uses proprietary cell-free rapid enzymatic synthesis, or RES, to produce ceDNA. The platform is designed to enable multi-year durability from a single dose, to deliver large genetic payloads, including multiple genes, to specific tissues, and to allow titration and redosing to adjust or extend expression levels in each patient. RES has the potential to expand Generation Bios manufacturing scale to hundreds of millions of doses to support its mission to extend the reach of genetic medicine to more people, living with more diseases, around the world.

For more information, please visit http://www.generationbio.com.

Contacts:

InvestorsMaren KillackeyGeneration Bio541-646-2420mkillackey@generationbio.com

MediaAlicia WebbGeneration Bio847-254-4275awebb@generationbio.com

Lisa RaffenspergerTen Bridge Communications617-903-8783lisa@tenbridgecommunications.com

Excerpt from:
Generation Bio to Present at European Society of Gene and Cell Therapy 2021 Annual Virtual Congress - StreetInsider.com

image:By creating a genome-proteome map scientists have uncovered hundreds of novel connections between different human diseases. view more

Credit: Omicscience https://www.omicscience.org/. This figure has been generated with BioRender.com.

Hundreds of connections between different human diseases have been uncovered through their shared origin in our genome by an international research team led by scientists from the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge, challenging the categorisation of diseases by organ, symptoms, or clinical speciality.

A new study published in Science today generated data on thousands of proteins circulating in our blood and combined this with genetic data to produce a map showing how genetic differences that affect these proteins link together seemingly diverse as well as related diseases.

Proteins are essential functional units of the human body that are composed of amino acids and coded for by our genes. Malfunctions of proteins cause diseases across most medical specialties and organ systems, and proteins are also the most common target of drugs that exist today.

The findings published today help explain why seemingly unrelated symptoms can occur at the same time in patients and suggest that we should reconsider how diverse diseases can be caused by the same underlying protein or mechanism. Where a protein is a drug target, this information can point to new strategies for treating a variety of conditions, as well as minimising adverse effects.

In the study using blood samples from over 10,000 participants from the Fenland study, the team led by senior author Dr Claudia Langenberg at the MRCEpidemiology Unit and Berlin Institute of Health at Charit Universittsmedizin, Germany, demonstrated that natural variation in 2,500 regions of the human genome is very robustly associated with differences in abundance or function of 5,000 proteins circulating in the blood.

This approach addresses an important bottleneck in the translation of basic science to clinically actionable insights. While large scale studies of the human genome have identified many thousands of variants in our DNA sequence that are associated with disease, underlying mechanisms remain often poorly understood due to uncertainties in mapping those variants to genes. By linking such disease-related DNA variations to the abundance or function of an encoded protein, the team produced strong evidence for which genes are involved, and identified novel mechanisms by which proteins mediate genetic risk into disease onset.

For example, multiple genome-wide association studies (GWAS) have linked a region of the human genome known as KAT8 with Alzheimers disease but failed to identify which gene in this region was involved. By combining data on both proteins and genes the team was able to identify a gene in the KAT8 region named PRSS8, which codes for the protein prostasin, as a novel candidate gene in Alzheimers disease. Similarly, they identified a novel risk gene for endometrial cancer (RSPO3).

The authors used these new insights to systematically test which of these protein-encoding genes affected a large range of diseases. They discovered more than 1,800 examples in which more than one disease was driven by variations in an individual gene and its protein products. What emerged was a network-like structure of human diseases, because many of the genes connected a range of seemingly diverse as well as related conditions in different tissues. This provides strong evidence that the respective protein is the origin, and points to new potential strategies for treatment.

Dr Langenberg explained:

An extreme example we discovered of how one protein can be connected to several diseases is the protein Fibulin-3, which we connected to 37 conditions, including hypermobility, hernias, varicose veins, and a lower risk of carpal tunnel syndrome. A likely explanation is atypical formation of elastic fibres covering our organs and joints, leading to differences in elasticity of soft and connective tissues. This is also in line with features that others have observed in mice where this gene was deleted.

Dr Maik Pietzner, a researcher at the MRC Epidemiology Unit and co-lead author of the study, added:

Using our genome as the basis was key to the success of this study. Because we know that most of the proteins detected in blood have their origin in cells from other tissues, we integrated different biological layers, like gene expression, to enable us to traceproteins back to disease-relevant tissues. For example, we found that higher activity of the enzyme bile salt sulfotransferase was associated with an increased risk of gall stones through a liver specific mechanism. We linked around 900 proteins to their tissue of origin in this way.

In collaboration with colleagues at the Helmholtz Centre in Munich, Germany, the authors have developed a bespoke web application (www.omicscience.org) to enable immediate dissemination of the results, and allow researchers worldwide to dive deeply into information on genes, proteins and diseases they are most interested in.

Dr Eleanor Wheeler, also at the MRC Epidemiology Unit and co-lead author of the study, concluded:

For most genomic regions associated with disease risk, the underlying causal gene and mechanism are not known. Our work demonstrates the distinctive value of proteins to zoom in on the causal gene for a disease and helps us to understand the mechanism through which genetic variation can cause disease. We envisage that the large amount of information we are sharing with the scientific community will help ongoing and emerging efforts to connect genes to diseases more directly via the encoded protein, thus facilitating accelerated identification of drug targets.

Reference

Pietzner M., Wheeler E., et al. Mapping the proteo-genomic convergence of human diseases. Science 2021;14 Oct 2021; DOI:10.1126/science.abj1541

ENDS

About the MRC Epidemiology Unit

The MRC Epidemiology Unit is a department at the University of Cambridge. It is working to improve the health of people in the UK and around the world.

Obesity, type 2 diabetes and related metabolic disorders present a major and growing global public health challenge. These disorders result from a complex interplay between genetic, developmental, behavioural and environmental factors that operate throughout life. The mission of the Unit is to investigate the individual and combined effects of these factors and to develop and evaluate strategies to prevent these diseases and their consequences. http://www.mrc-epid.cam.ac.uk

About the University of Cambridge

The University of Cambridge is one of the worlds top ten leading universities, with a rich history of radical thinking dating back to 1209. Its mission is to contribute to society through the pursuit of education, learning and research at the highest international levels of excellence.

The University comprises 31 autonomous Colleges and 150 departments, faculties and institutions. Its 24,450 student body includes more than 9,000 international students from 147 countries. In 2020, 70.6% of its new undergraduate students were from state schools and 21.6% from economically disadvantaged areas.

Cambridge research spans almost every discipline, from science, technology, engineering and medicine through to the arts, humanities and social sciences, with multi-disciplinary teams working to address major global challenges. Its researchers provide academic leadership, develop strategic partnerships and collaborate with colleagues worldwide.

The University sits at the heart of the Cambridge cluster, in which more than 5,300 knowledge-intensive firms employ more than 67,000 people and generate 18 billion in turnover. Cambridge has the highest number of patent applications per 100,000 residents in the UK.

http://www.cam.ac.uk

About the Medical Research Council

The Medical Research Council is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers money in some of the best medical research in the world across every area of health. Thirty-three MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. The Medical Research Council is part of UK Research and Innovation. https://mrc.ukri.org/

Observational study

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Mapping the proteo-genomic convergence of human diseases

14-Oct-2021

Robert A. Scott and Adrian Cortes are current employees and/or stockholders of GlaxoSmithKline. ERG receives an honorarium from the journal Circulation Research of the American Heart Association as a member of the Editorial Board. Stephen O'Rahilly has received remuneration for consultancy services provided to Pfizer Inc, Astra Zeneca, ERX Pharmaceuticals, GSK, Third Rock Ventures and LG Life Sciences. All other authors declare that they have no competing interests.

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Filling the gaps: connecting genes to diseases through proteins - EurekAlert

Gosselies, Belgium, 12 October 2021, 7:00 am CEST BONE THERAPEUTICS (Euronext Brussels and Paris: BOTHE), the cell therapy company addressing unmet medical needs in orthopedics and other diseases, today announces it has appointed key experts to a Scientific Advisory Board (SAB).

Bone Therapeutics has appointed the members of this SAB specifically to provide additional expert guidance on the development of Bone Therapeutics novel, next generation induced pluripotent stem cell-derived mesenchymal stromal cell (iMSC) platform. This iMSC platform will be used to develop cell and gene therapy products that have strong anti-inflammatory and immunomodulatory properties, for the treatment of acute life-threatening unmet medical diseases.

Bone Therapeutics has appointed its SAB with world-recognized scientists and clinicians in the cell and gene therapy field. Each SAB member has been selected having demonstrated leadership roles in the clinical development of engineered cell and gene therapy for specific acute unmet medical conditions. These specific conditions include graft vs host disease, acute respiratory distress syndrome, sepsis, and trauma, as well as orthopedic conditions including osteoarthritis.

Bone Therapeutics is developing a next generation iMSC platform that has the potential to develop transformative cell and gene therapies for patients suffering from a range of life-threatening unmet medical diseases. Given the therapeutic potential of this platform and to deliver this platform to an operational state as quickly as possible, Bone Therapeutics has brought together a group of world-leading experts to support its development, said Tony Ting, PhD, Chief Scientific Officer, Bone Therapeutics. These thought leaders have been selected to bring a wealth of specific experience in the clinical development of cell and gene therapies. The input from this SAB will be critical as Bone Therapeutics develops its next-generation iMSC products for acute inflammatory diseases.

Given the therapeutic potential of the iMSC platform that Bone Therapeutics is developing, the invitation to chair and help form this scientific advisory board was too tempting to decline, said Massimo Dominici, MD, chair, Bone Therapeutics Scientific Advisory Board. The blend in expertise of this scientific advisory board will be able to provide key advice and consultancy to Bone Therapeutics and will make key contributions to ensure the development of the iMSC platform to reach patients of acute life-threatening unmet medical diseases as quickly as possible.

The Bone Therapeutics Scientific Advisory Board are as follows:

Massimo Dominici, MD, (Chair) - Full Professor of Medical Oncology and Director of the Division of Medical Oncology and of the Program of Cellular Therapy and Immuno-oncology at the University Hospital of Modena and Reggio Emilia (Italy). Also a member of the World Health Organization (WHO) Expert Advisory Panel on The International Pharmacopoeia and Pharmaceutical Preparations serving the INN Expert Group. Since 2016, the Director of the Residency School in Medical Oncology, since 2005, head of the Laboratory of Cellular Therapies at the University Hospital of Modena and Reggio Emilia (Italy). Scientific founder of the university start-up Rigenerand since 2009. Co-founder and coordinator of the Mirandola Science & Technology Park. Co-founder of the Forum of Italian Researcher on MSC (FIRST), board member of JACIE, WBMT and scientific advisor for the Italian Minister of Health. President of ISCT 2014-2016, Emeritus Member of ISCT and now Member of the ISCT Strategic Advisory Council. From June 2014 until May 2020 Chair of the ISCT Presidential taskforce on unproven cell and gene therapies.

Frank Barry, PhD, Professor of Cellular Therapy at the Regenerative Medicine Institute (REMEDI), National University of Ireland Galway and Visiting Scientist at the Schroeder Arthritis Institute in Toronto. He has made key contributions to the fields of tissue engineering and regenerative medicine by developing innovative and successful cellular therapies for tissue repair, joint injury and arthritic disease. By undertaking a large body of basic and translational research, he has contributed to the industrys current understanding of the phenotypic attributes of mesenchymal stromal cells that make them attractive candidates for advanced therapeutics. He has also contributed to the development of methods for automated, efficient and scalable cell expansion for GMP application and has been a leader in the development of clinical protocols for patient testing. He is the Coordinator of the ADIPOA2 clinical trial to test the efficacy of stromal cell delivery as a treatment for osteoarthritis. Frank Barry has received the Marshall Urist Award for excellence in tissue regeneration research from the Orthopaedic Research Society. Recently elected as a Member of the Royal Irish Academy.

Robert Deans, PhD, CSO at Synthego, a genome engineering company automating a new era of cell and gene therapeutics. Previously CTO at BlueRock Therapeutics, creating iPSC based allogeneic cell therapeutics by harnessing pluripotent stem cell biology and gene editing tools and founding CSO at Rubius Therapeutics, developing a platform of novel enucleated cell therapeutics based on genetic engineering and expansion of hematopoietic progenitors to mature red cells. Dr. Deans has more than 30 years of experience in adult stem cell therapeutics which includes HSC gene therapy and commercialization of progenitor cell therapeutics from bone marrow. Richard Maziarz, MD, has been involved in clinical investigation and translational research, for over 30 years, beginning with research and clinical training at the Dana-Farber Cancer Institute and the Brigham & Womens Hospital and continuing in 1991 when he moved to Oregon Health & Science University (OHSU) to develop a transplantation immunology program and served as the medical director of the adult OHSU stem cell transplant program since 1994. His research involved the immunology of transplantation or its complications, particularly in studying the immunopathophysiology of GVHD. He has served as principal investigator or co-investigator on over 100 clinical trials including multiple initiatives sponsored by numerous national transplant organizations including SWOG, CIBMTR, ISCT, NMDP and BMT CTN. Within the BMT CTN, he serves on the Steering committee, chaired the Regimen Related Toxicity Committee, was a member of the GVHD Committee and served as the principal investigator for the BMT CTN on the first multicenter, stem cell transplant trial for patients with advanced chronic lymphocytic leukemia (BMT CTN 0804).

Patricia Rocco, MD, PhD, Full Professor at the Federal University of Rio de Janeiro, and heads the Laboratory of Pulmonary Investigation. Elected Member of the National Academy of Medicine in Brazil and Brazilian Academy of Science. Past Vice-President of ISCT for the South and Central America regions. Authored and co-authored more than 380 peer-reviewed publications and 120 book chapters. She is the President of the Brazilian Society of Physiology (2021-2022). Her research activities focus mainly on the development of new therapies for lung diseases.

About Bone Therapeutics

Bone Therapeutics is a leading biotech company focused on the development of innovative products to address high unmet needs in orthopedics and other diseases. The Company has a diversified portfolio of cell therapies at different stages ranging from pre-clinical programs in immunomodulation to mid stage clinical development for orthopedic conditions, targeting markets with large unmet medical needs and limited innovation.

Bone Therapeutics core technology is based on its cutting-edge allogeneic cell and gene therapy platform with differentiated bone marrow sourced Mesenchymal Stromal Cells (MSCs) which can be stored at the point of use in the hospital. Currently in pre-clinical development, BT-20, the most recent product candidate from this technology, targets inflammatory conditions, while the leading investigational medicinal product, ALLOB, represents a unique, proprietary approach to bone regeneration, which turns undifferentiated stromal cells from healthy donors into bone-forming cells. These cells are produced via the Bone Therapeutics scalable manufacturing process. Following the CTA approval by regulatory authorities in Europe, the Company has initiated patient recruitment for the Phase IIb clinical trial with ALLOB in patients with difficult tibial fractures, using its optimized production process. ALLOB continues to be evaluated for other orthopedic indications including spinal fusion, osteotomy, maxillofacial and dental.

Bone Therapeutics cell therapy products are manufactured to the highest GMP (Good Manufacturing Practices) standards and are protected by a broad IP (Intellectual Property) portfolio covering ten patent families as well as knowhow. The Company is based in the BioPark in Gosselies, Belgium. Further information is available at http://www.bonetherapeutics.com.

For further information, please contact:

Bone Therapeutics SAMiguel Forte, MD, PhD, Chief Executive OfficerLieve Creten, Chief Financial Officer ad interimTel: +32 (0)71 12 10 00investorrelations@bonetherapeutics.com

For Belgian Media and Investor Enquiries:BepublicCatherine HaquenneTel: +32 (0)497 75 63 56catherine@bepublic.be

International Media Enquiries:Image Box CommunicationsNeil Hunter / Michelle BoxallTel: +44 (0)20 8943 4685neil.hunter@ibcomms.agency / michelle@ibcomms.agency

For French Media and Investor Enquiries:NewCap Investor Relations & Financial CommunicationsPierre Laurent, Louis-Victor Delouvrier and Arthur RouillTel: +33 (0)1 44 71 94 94bone@newcap.eu

Certain statements, beliefs and opinions in this press release are forward-looking, which reflect the Company or, as appropriate, the Company directors current expectations and projections about future events. By their nature, forward-looking statements involve a number of risks, uncertainties and assumptions that could cause actual results or events to differ materially from those expressed or implied by the forward-looking statements. These risks, uncertainties and assumptions could adversely affect the outcome and financial effects of the plans and events described herein. A multitude of factors including, but not limited to, changes in demand, competition and technology, can cause actual events, performance or results to differ significantly from any anticipated development. Forward looking statements contained in this press release regarding past trends or activities should not be taken as a representation that such trends or activities will continue in the future. As a result, the Company expressly disclaims any obligation or undertaking to release any update or revisions to any forward-looking statements in this press release as a result of any change in expectations or any change in events, conditions, assumptions or circumstances on which these forward-looking statements are based. Neither the Company nor its advisers or representatives nor any of its subsidiary undertakings or any such persons officers or employees guarantees that the assumptions underlying such forward-looking statements are free from errors nor does either accept any responsibility for the future accuracy of the forward-looking statements contained in this press release or the actual occurrence of the forecasted developments. You should not place undue reliance on forward-looking statements, which speak only as of the date of this press release.

Read this article:
Bone Therapeutics appoints Scientific Advisory Board for iMSC cell and gene therapy platform development - GlobeNewswire

The birth of the first IVF baby, Louise Brown, in 1978 provoked a media frenzy. In comparison, a little girl named Aurea born by IVF in May 2020 went almost unnoticed. Yet she represents a significant first in assisted reproduction too, for the embryo from which she grew was selected from others based on polygenic screening before implantation, to optimise her health prospects.

For both scientific and ethical reasons, this new type of genetic screening is highly controversial. The nonprofit California-based organisation the Center for Genetics and Society (CGS) has called its use here a considerable reach by the assisted-reproduction industry in the direction of techno-eugenics.

The polygenic screening for Aurea was provided by a New Jersey-based company called Genomic Prediction. The gene-sequencing company Orchid Biosciences in California now also offers an embryo-screening package that assesses risks for common diseases such as heart disease, diabetes and schizophrenia.

Genetic screening of IVF embryos for health reasons, known as preimplantation genetic diagnosis or PGD, is not new in itself. In the UK, it is permitted by the Human Fertilisation & Embryology Authority (HFEA), which regulates assisted conception technologies, to look for specific gene variants associated with around 500 diseases, including cystic fibrosis and Tay-Sachs disease.

The diseases conventionally screened with PGD are mostly caused by a mutation in only a single gene. They can be nasty but are typically rare. In contrast, most common health problems, such as heart diseases or type 2 diabetes, are polygenic: caused by complex interactions among several, often many, genes. Even if particular gene variants are known to increase risk, as for example with the BRCA1/2 variants associated with breast cancer, such links are probabilistic: theres no guarantee that people with that variant will get the disease or that those who lack it will not.

Thats simply how most genes work: in complex, interconnected and often poorly understood ways, so that the gene variants an individual carries dont guarantee which traits they will develop. And environmental factors such as upbringing and diet, as well as unpredictable quirks of embryo development, also have a role. Were products of (genetic) nature, nurture, chance and an interplay between all three.

Yet the availability today of genetic data for many thousands of individuals, thanks to the plummeting costs of genome sequencing and the popularity of genomic profiling companies such as 23AndMe and Orchid, has transformed our understanding of how genes relate to traits. The technique known as a genome-wide association study (GWAS) can sift through vast databanks to look for statistical associations between an individuals gene variants and pretty much any trait we choose. Such studies have found that often substantial amounts of the differences between individuals can be linked to different variants (alleles) of many genes. Each gene might contribute only a tiny effect too small to be apparent without plenty of data - but added together, the influence of the genes can be significant.

So someones genetic profile the variants in their personal genome can be used to make predictions about, say, how likely they are to develop heart disease in later life. They can be assigned a so-called polygenic risk score (PRS) for that condition. Aureas embryo was chosen because of low PRSs for heart disease, diabetes and cancer. PRSs can be used to predict other things too, such as a childs IQ and educational attainment.

But such predictions are probabilistic, both because we cant say exactly how our genes will play out in influencing that trait and because genes arent the only influence anyway. So theres nothing inevitable or deterministic about a PRS. An individual with a high PRS for skin cancer might never develop it, while someone who scores low might do so. Someone with a genetic profile that predicts a modest IQ might turn out to be brilliant.

This is one reason why using PRSs in embryo screening which is legal and largely unregulated in the US is controversial. Unlike single-gene diseases, where the health outcome can be almost certain, its not clear how much faith we can put in predictions for polygenic traits. Yet we make choices based on probabilities all the time. We cant be sure that a particular school will be best for our childs education, but we may decide it will improve the chances of a good outcome. If one embryo has low PRSs for common diseases and another has high ones, doesnt it make sense to pick the first? Aureas father, North Carolina neurologist Rafal Smigrodzki, has argued that part of a parents duty is to make sure to prevent disease in their child. Polygenic testing, he says, is just another way of doing that.

Embryo screening is already used for BRCA1 and 2, even though it is by no means certain that women who carry them will develop breast cancer. Advocates of PRS screening say that it merely improves the risk assessment by widening the genetic factors considered. Most families with a history of breast cancer do not carry the BRCA allele and would benefit from polygenic screening, says Genomic Predictions founder, Stephen Hsu, a professor of physics at Michigan State University. The potential public health benefits are huge. Ethics philosophers Sarah Munday and Julian Savulescu have argued in favour of allowing polygenic screening for any trait that can be shown to be correlated with a greater chance of a life with more well-being.

Theres a scientific basis to the concept [of PRSs] and its a type of genetic assessment that has a future in medicine, says bioethicist Vardit Ravitsky of the University of Montreal. Yet most regulators and many experts feel that there is not yet any justification for using them to try to improve the health outcomes of IVF children. Its not seen as ready for primetime use, says Ravitsky. Its still at a research stage. So when you start jumping straight into implementation, especially in a reproductive context, youre in a minefield. An article in the New England Journal of Medicine in July pointed out that benefits of PRS embryo selection are likely to be very small, all the more so for people not of European heritage, for whom genomic data are less extensive and so less reliable for prediction.

If PRS gives you the power to reduce your offsprings lifetime risk of type 2 diabetes from 30% to 27%, is that worth the time, money, and emotional investment? asks bioethicist Hank Greely of Stanford University in California. And to whom? Thats very different, he says, from the confidence with which single-gene diseases can be screened and avoided.

And once such screening methods are permitted, where does it stop? Already, American couples can screen embryos for gender, complexion and eye colour. Whats to stop a company offering to screen for a non-disease trait such as height or intelligence? Theres no reason to think polygenic embryo screening will end with conditions like heart disease and diabetes, says Katie Hasson, associate director of the CGS. Screening for schizophrenia and other mental illnesses is already on offer. These directly echo eugenic efforts to eliminate feeble-mindedness. We are talking about deciding who should be born based on good and bad genes.

Genomic Prediction has previously offered to screen for gene variants associated with intellectual disability, but Hsu stresses that now the company only offers the service for serious disease risks. We decided that traits like height and cognitive ability are too controversial and detract from our ability to help families reduce disease risk, he says.

Its not clear that screening for such non-disease traits would work anyway. I think the things that parents are most interested in, like intelligence, sports and musical ability, will have extremely small to nonexistent convincing PRS results, says Greely. A study in 2019 suggested that using polygenic screening to select embryos for height and IQ would be likely to make only a tiny difference on average and theres a fair chance you wouldnt end up picking the best embryo.

So what should be permitted? Hsu says: We hope that in the future, society as a whole, perhaps on a nation-by-nation basis, will reach a consensus on which non-disease traits are acceptable for embryo screening. Some have objected to his implication that, say, welfare dependence or criminality are in the genes. Hsu has also attracted controversy because of his comments on whether there are genetically based differences in IQ between racial groups, although he says he is agnostic on the issue. An outcry about his remarks on such matters compelled him to resign in 2020 as his universitys senior vice-president of research and innovation.

Hsu was also one of the scientists suggested by Dominic Cummings to run the UKs new Advanced Research and Invention Agency. In 2014, Cummings blogged about how the NHS should cover the cost of selecting embryos for IQ; in 2019, he was pictured outside 10 Downing Street with Hsu.

To avoid any Gattaca-style genetic stratification of society, Hsu has expressed the hope that progressive governments will make this procedure free for everyone. But Hasson believes that this wouldnt solve the problems of inequality that such techniques could exacerbate. Even if PRSs for smartness, say, have little real predictive value, she says that belief in genomic predictions can itself be a driver of intense inequalities in society by reinforcing ideas of genetic determinism. Families that invest their money, time and hopes in this kind of screening and selection will have children they believe are genetically superior and those children will be treated as superior by their parents, care-givers and educators.

Social pressure could make it hard to resist polygenic screening if its on offer in our hyper-competitive societies. Once you do IVF, you feel pressure to use any add-on service or test that the clinic offers you, says Ravitsky. Look at what happens today when a woman declines prenatal screening or amniocentesis. Many women feel judged, not just by peers but by healthcare providers. The idea that its all about autonomy of choice can be an illusion, she says.

Even if PRSs have little real value in forecasting the prospects of a child, evidently a market exists for them. In countries such as the US where assisted conception is weakly regulated, companies can make unrealistic and exploitative promises. Couples might even elect to have a child via IVF specifically to avail themselves of such opportunities. Its a gruelling process that carries risks in itself, but women might feel compelled to use it, even though Ravitsky thinks that allowing someone to do so for this reason alone would be borderline malpractice.

Yet the genie is out of the bottle. I believe that polygenic screening will become very common in the near future, Hsu says. Reasonable people will wonder why the technology was ever controversial at all, just as in the case of IVF. The HFEA is still considering its implications, says its chief executive, Peter Thompson, who stresses that it is currently illegal in the UK. Even if there were more scientific consensus about the value of PRSs, he adds, there is an important distinction between embryo selection to avoid serious harm and for so-called enhancement, like greater intelligence. The latter would represent a fundamental public policy shift. It raises a range of ethical concerns and could only be contemplated if it has the backing of society more generally, he says.

We urgently need public and policy conversations about polygenic embryo screening, says Hasson. Finding the right balance between autonomy and social responsibility is the fundamental dilemma of liberal democracies. We let people spend their money, and make decisions powerfully affecting their kids, on far more clearly bogus information than PRS, says Greely.

As a society, were very far from knowing how we want to use these potential technologies, says Ravitsky, but, she adds, we are already living in the grey zone.

Read more from the original source:
Polygenic screening of embryos is here, but is it ethical? - The Guardian

PHILADELPHIAReferred to as a Beacon of Hope, Penn Medicines new Pavilion, one of the largest hospital projects underway in the United States, opens to staff, patients, and visitors this month.

The 17-story bronze-colored building rises on Penn Medicines West Philadelphia campus, housing 504 private patient rooms and 47 operating rooms, as an expanded footprint of the Hospital of the University of Pennsylvania (HUP). The $1.6 billion facility is poised to serve as the launch pad for Penn Medicines next generation of pioneering advances in patient care.

From the design and construction process to staff training, this state-of-the-art hospital has been home to a variety of innovative approaches that are mapping the future of healthcare. Highlights include:

The uncertainties experienced throughout the COVID-19 pandemic have emphasized the need for designing a hospital that could adapt with rapidly changing science, medicine, and patient care. The Pavilion not only has enhanced infection control capabilities, but it was designed to help accelerate bench-to-bedside research, and it incorporates state-of-the-art technologies for caregivers, such as rooms with telemedicine functionality to allow for remote monitoring and consultations.

In the center of a vibrant clinical and research campus, the Pavilion is a centerpiece of Penn Medicines world-class expertise in bold approaches to treating diseases of all kinds, from cell and gene therapies to specialized cardiac surgeries.

The Pavilion is designed to transform the patient and family experiencetheir experience starts with a reassuring welcome in the lobby, and extends through comfortable wards, private rooms, and spaces for caregivers.

While the Pavilion is a place that promotes healing through patient care, it also creates a restorative environment by providing calming art and nutritious food for patients, visitors, and staff.

Ten thousand employees completed training before the Pavilion opens its doors for patients. This comprehensive training program is built on years of employee feedback, testing, and participation.

Sustainability has been a key aspect of the Pavilions construction and design from the beginning, making it on track toward receiving a Leadership in Energy and Environment Design (LEED) Gold Certificationa globally recognized symbol that promotes achievement in sustainable design and construction.

Penn Medicineis one of the worlds leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nations first medical school) and theUniversity of Pennsylvania Health System, which together form a $8.9 billion enterprise.

The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $496 million awarded in the 2020 fiscal year.

The University of Pennsylvania Health Systems patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Centerwhich are recognized as one of the nations top Honor Roll hospitals byU.S. News & World ReportChester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nations first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is powered by a talented and dedicated workforce of more than 44,000 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2020, Penn Medicine provided more than $563 million to benefit our community.

Link:
Patient Care on the Precipice of Transformation at Penn Medicine's New Pavilion - pennmedicine.org