Category Archives: Genetic medicine

image:Prof. Illana Gozes view more

Credit: Jonathan Blum, Tel Aviv University.

An extensive international study led by Tel Aviv University found that an experimental drug which has been awarded orphan drug designation by the FDA for future treatment of a rare development disorder can also treat a variety of symptoms relating to autism, intellectual disability, and Alzheimers disease.

The experimental drug, NAP, was discovered in the lab of Prof. Illana Gozes of the Tel Aviv University Sackler Medical Schools Department of Human Molecular Genetics and Biochemistry. In recent years, the FDA has granted the experimental drug with orphan drug designation and pediatric rare disease designation for treatment of a rare developmental disorder called ADNP syndrome, which can cause a variety of symptoms, among them, hallmark features are intellectual disability and autism spectrum disorder.

In the current study, a team of researchers led by Prof. Gozes developed an innovative lab model and found that NAP can be effective in treating a broad spectrum of symptoms of ADNP syndrome, which is caused by mutations in the ADNP gene which is essential to cerebral development and protecting cerebral brain cells. Previous studies showed that ADNP syndrome is related to Alzheimers disease and certain types of mental disabilities, developmental delays, and autism.

Ramot, Tel Aviv University's technology commerce company filed a number of patent applications to protect the technology and its implementation and, in collaboration with Prof. Gozes, is raising funds to finance further clinical research. Similarly, Ramot is in discussions regarding commercial collaboration with pharmaceutical companies. "Were excited by this new discovery and believe that this is groundbreaking technology that will remedy a variety of symptoms and disabilities in a broad spectrum of orphan diseases," said Prof. Keren Primor Cohen, CEO of Ramot.

The study, which is the culmination of the MD/PhD student Dr. Gideon Carmons doctoral research, was joined by a team of researchers from Prof. Gozess lab: Dr. Shlomo Sergovich, Gal Hacohen-Kleiman, Inbar Ben-Horin-Hazak, Dr. Oxana Kapitansky, Alexandra Lubincheva, and Dr. Eliezer Giladi. The team was further joined by Dr. Moran Rubinstein, Prof. Noam Shomron, and Guy Shapira of TAUs Sackler Faculty of Medicine, and Dr. Metsada Pasmanik Chor of Tel Aviv Universitys George S. Wise Faculty of Life Sciences. Researchers from the Czech Republic, Greece, Germany, and Canada also participated. The article was published in the prestigious journal Biological Psychiatry.

Prof. Gozes explained that: NAP, in fact, comprises a short segment of the normal ADNP protein. We previously found that treatment using NAP corrects the function of human nerve cells afflicted with ADNP syndrome in a laboratory test-tube. In this study, we sought to examine the efficacy of NAP in treating various aspects of the syndrome using a model with the most harmful mutation, which allowed us to view brain development and facilitate remedying of behavioral problems.

The study, which examined a model using mice with ADNP syndrome, used objective methods to analyze behavior, electrical activity, and to further identify select protein contents in the brain. The researchers found that the mice suffering from ADNP syndrome demonstrated a broad spectrum of pathological outcomes, including increased rates of neonatal death immediately after birth, slowed development and aberrant gait, primarily among females, as well as poor voice communication.

Cerebral examinations demonstrated additional findings: A relatively small number of synapses the points of contact tween nerve cells, impaired electrophysiological activity demonstrating a low potential for normal cerebral arousal, as well as precipitates (aggregates) of the Tau protein in young mice, similar to those in the brains of elderly Alzheimer's disease patients.

For most of these symptoms, the researchers examined the effect of the future medicinal substance NAP made of a short and normal segment of the ADNP protein, the same protein that is impaired because of the mutation. Prof. Gozes: "In the past, we have found that NAP corrects impaired functioning of ADNP that has mutated in the nerve cell model in the culture. We now examined its effect in vivo in animals modeling the syndrome (ADNP mutation). To our amazement and joy, we discovered that treatment using NAP normalizes the functioning of these mice for most of the symptoms indicated above!"

Researchers further sought to identify in the blood of the mice, a clear biological indicator of ADNP syndrome that will enable diagnosis of this severe disease and effective monitoring of treatment using a simple blood test. With the help of genetic sequencing technologies, they identified an anomaly in a manner characteristic only of females as well as a method for repair using NAP on five proteins (at the messenger RNA level). These findings matched the changes discovered in white blood cells of children suffering from ADNP syndrome. One of the indicators discovered is FOXO3 a protein with an important role in generating cerebral synapses and healthy aging.

Prof. Gozes summarized: "In this study, we examined the effect of the ADNP genes most prevalent mutation in a broad spectrum of aspects and found extensive impairment in physical and cerebral functioning parallel to the symptoms of autism, developmental delay, mental disability, and Alzheimer's disease in humans. Similarly, we examined the potential use of the NAP drug for treating these diseases, and discovered that it is effective against most of these symptoms in lab models. This study is an important milestone on the way to developing a drug, or drugs, that will help children with autism stemming from genetic mutations, as well as Alzheimer's patients."

Link to the article:

https://doi.org/10.1016/j.biopsych.2021.09.018

Biological Psychiatry

Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies

28-Sep-2021

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Experimental compound, which has received orphan drug and pediatric rare disease designations from the FDA, displays effectiveness in treating...

FREMONT, Calif., Dec. 9, 2021 /PRNewswire/ -- The global CRISPR gene editing marketis projected to reach $18.85 billion by 2031, reveals the premium market intelligence study by BIS Research. The study also highlights that the market is set to witness a CAGR of 29.60% during the forecast period 2021-2031.

The development of genome engineering with potential applications proved to reflect a remarkable impact on the future of the healthcare and life science industry. The high efficiency of the CRISPR-Cas9 system has been demonstrated in various studies for genome editing, which resulted in significant investments within the field of genome engineering. However, with so many advantages, limitations also exist, which need consideration before clinical applications.

The detailed study is a compilation of 09 Market Data Tables and 238 Figures spread through 296 Pages and in-depth TOC on "Global CRISPR Gene Editing Market Analysis and Forecast, 2021-2031"

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To emphasize the dominance of the kits and enzymes segment of CRISPR products market segment over other segments under the product category of CRISPR gene editing market in 2021 and 2031, Nitish Kumar, Lead Analyst BIS Research, states, "The reason for market growth and the dominance of CRISPR products market segment can be attributed to increasing global geriatric population, prevalence of genetic disorders, chronic conditions, rising focus on research and development (R&D) of novel gene therapies, increased government and private funding for improved safety and outcomes provided by the CRISPR gene editing products."

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BIS Researchis a global B2B market intelligence and advisory firm focusing on deep technology and related emerging trends which can disrupt the market dynamics in the near future. We publish more than 200 market intelligence studies annually that focus on several deep technology verticals.

Our strategic market analysis emphasizes on market estimations, technology analysis, emerging high-growth applications, deeply segmented granular country-level market data, and other important market parameters useful in the strategic decision-making for senior management.

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BIS Healthcare vertical offers intelligence in the healthcare technology market for Medical Devices, Digital Health, Life Sciences, Robotics and Imaging, Information Technology, Precision Medicine, and other emerging healthcare technologies, covering the entire industry spectrum. In the past 5 years, BIS Healthcare has published more than 50 reports under the precision medicine banner. Additionally, BIS Research has been nominating Top 25 Voices in Precision Medicine on its Insight Monk platform for the past two years successfully.

Contact:Bhavya BangaEmail: [emailprotected] BIS Research Inc.39111 PASEO PADRE PKWY STE 313,FREMONT CA 94538-1686Visit our Blog @ https://blog.bisresearch.com/ Connect with us on LinkedIn @ https://www.linkedin.com/company/bis-researchConnect with us on [emailprotected] https://twitter.com/BISResearch

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BIS Research Study Highlights the Global CRISPR Gene Editing Market to Reach $18.85 Billion by 2031 - PRNewswire

Horse owners usually dread hearing the diagnosis of laminitis. The disease plagues horses of many backgrounds, ages, and disciplines. Now, using genetics, scientists from Penns School of Veterinary Medicine and the University of Florida (UF) have made new insights in the disease. Their findings appear in the journal Veterinary Immunology and Immunopathology.

A horses hoof has a tough job. It must support a heavy animal which can move faster than 40 miles per hour. Laminitis occurs when inflammation and damage of the tissue arises between the hoof and coffin bone. The condition causes lameness and a diminished quality of life, and it often results in euthanasia.

Laminitis is a tough problem for the horse and its owner, says Samantha Brooks, UF associate professor of equine physiology and the corresponding author on the work. We have very few tools in our arsenal to manage the disease itself. We treat symptoms, pain, and mechanical instability but do not have anything to target the cause just yet.

By tapping into my labs database and incorporating Dr. Brooks unparalleled expertise in equine genetics and transcriptome analysis, we have identified new and promising pathways in cell stress and inflammatory response that significantly enhance our understanding of supporting limb laminitis and its disease processes, says Hannah Galantino-Homer, senior investigator in laminitis research at Penn Vets New Bolton Center and a coauthor on the paper.

Laminitis studies have previously been hindered by the scarcity of genetic information specific to hoof tissues. Scientists tapped into the New Bolton Center Laminitis Discovery Database, an archive of data and sample sets from naturally occurring laminitis cases collected since 2008. Using that database, researchers examined 36 archived tissues of 20 Thoroughbred horses treated for laminitis.

There are three types of laminitis, and all impair the structure and function of the horses foot. This research provided a snapshot of the active pathways and functions of the hoof, with a focus on supporting limb laminitis, the kind to which famous racehorse Barbaro succumbed.

We understand the situations that trigger an episode of laminitis, but we do not have a good understanding of what is happening in the hoof, says Brooks. This study took a very comprehensive view of the processes early in the development of laminitis.

Using gene-expression analysis, researchers catalogued the changes in gene transcription across the 20 horses. Some had healthy feet, some were early in the disease process, and others were more severe.

Researchers identified three key findings about the disease process.

The first related to keratin, an important structural protein that helps maintain the structural integrity of materials like hair, nails, and hooves. This study was one of the first to examine the changes in the keratin protein family through the laminitis disease process. Some of the keratin-related genes and genes involved in regulating of the cells manufacturing process started to diminish as the disease began. This could be compared to when a car gets a flat tire; it may still be running, but it loses appropriate function and slows down.

Another component of cell machinery often studied in laminitis is a class of enzymes called metalloproteinases that help maintain the cytoskeleton. These enzymes must maintain a careful equilibrium. Hooves must be able to grow yet not break down under the weight of the horse, which requires a balance of remodeling and building tissues. When the metalloproteinases become too active, the hoof begins to lose structural strength. One previous strategy for treating this process was to stop these enzymes from becoming too active. But treatment targeting these enzymes might also stop hoof growth, which would likely lead to further problems.

When keratin degrades, inflammation in the hoof leads to laminitis. Scientists found a collection of genes responsible for triggering that inflammation which could pave the way for future therapies. The genes led researchers to believe that some human medications for autoimmune disorders may help horses with laminitis.

Changes in gene expression in diseased tissue are often reflected in changes in the proteins that can be detected in the blood as the disease progresses. For example, specific proteins, or biomarkers, that increase in the blood in humans following traumatic brain injury were also expressed at higher levels in the samples from the horses with laminitis in this study. Medical doctors have used these compounds to understand the severity of these injuries in humans without using imaging or more invasive testing. The team hopes this could be used as a tool to monitor the progression of laminitis in the horse.

We dont always recognize that a horse has severe laminitis until things have gotten quite bad, says Brooks. Early monitoring tools and ways to combat the disease were exciting findings, but we need further research before these new tools will be ready for use in the field.

The researchers hope that this research can lead to a blood test to detect these new laminitis-related biomarkers as well as medications that are economical and effective for horses with the disease.

Ultimately, these new findings point us towards a more targeted approach for future exploration that we hope will help uncover novel solutions for preventing and treating this debilitating disease, says Galantino-Homer.

This is a big step in improving our understanding of laminitis, says Brooks. Something that could be completely untreatable 10 years ago; in another 10 years we may be able to intervene and make a significant difference in the disease early on.

Galantino-Homer and Brooks coauthors were Heather M. Holl from UF and Caitlin Armstrong from Penn Vet.

The study was supported by funding from The Foundation for the Horse.

University of Florida media contact: Tory Moore, 354-273-3566, torymoore@ufl.edu

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Laminitis insights show promise for the future | Penn Today - Penn Today

(Reuters) - Heres what you need to know about the coronavirus right now:

People walk their dog past a sign put up to encourage social distancing along Marina Bay during the coronavirus disease (COVID-19) outbreak, in Singapore, September 29, 2021. REUTERS/Edgar Su

Singapore looking into unusual surge after record cases

Singapores health ministry said it is looking into an unusual surge in infections after the city-state reported 5,324 new cases of COVID-19, the most since the beginning of the pandemic. Singapore also recorded 10 new deaths from the disease, taking its toll to 349.

Singapore extended some of its social-distancing curbs last week to contain the spread of COVID-19 to ease pressure on the health system. Authorities have reimposed curbs that include limiting social interactions and dining out to two people.

COVID infections, deaths dropping across the Americas

COVID-19 is slowly retreating across most of North, Central and South America, the Pan American Health Organization (PAHO) said on Wednesday, reporting that last week the continents death and infection figures were the lowest in more than a year. Many of the larger Caribbean islands are seeing downward trends, including Cuba, the site of a major months-long COVID-19 outbreak.

However, Paraguay saw a doubling of coronavirus cases in the last week and Belize had a sharp jump in COVID-related deaths, the regional branch of the World Health Organization said. Moe than 3 million more vaccine doses will arrive in the region through the COVAX facility this week, as deliveries pick up in the final months of the year, PAHO Assistant Director Jarbas Barbosa said.

White House signals flexibility over Dec. 8 vaccine deadline

The Biden administrations COVID-19 vaccination deadline will not require immediate action on the part of employers against unvaccinated employees when it comes into force on Dec. 8, the White House coronavirus response coordinator said on Wednesday.

The White House comments suggest federal contractors employing millions of U.S. workers have significant flexibility in enforcing COVID-19 rules and will not be required to immediately lay off workers, but will have time for education, counselling and other measures before potentially ending employment.

Genes may explain critical COVID-19 in young, healthy adults

A gene that helps the coronavirus reproduce itself might contribute to life-threatening COVID-19 in young, otherwise healthy people, new findings suggest. Genetic analysis identified five genes that were significantly upregulated, or more active, in COVID-19 patients with critical illness, of which the most frequent was a gene called ADAM9.

As reported on Tuesday in Science Translational Medicine, the researchers saw the same genetic pattern in a separate group of COVID-19 patients. Later, in lab experiments using human lung cells infected with the coronavirus, they found that blocking the activity of the ADAM9 gene made it harder for the virus to make copies of itself. More research is needed, they say, to confirm their findings and to determine whether it would be worthwhile to develop treatments to block ADAM9.

Coronavirus found to infect fat cells

Obesity is a known risk factor for more severe COVID-19. One likely reason may be that the virus can infect fat cells, researchers have discovered. In lab experiments and in autopsies of patients who died of COVID-19, they found the virus infects two types of cells found in fat tissue: mature fat cells, called adipocytes, and immune cells called macrophages.

Infection of fat cells led to a marked inflammatory response, consistent with the type of immune response that is seen in severe cases of COVID-19, said Dr Catherine Blish of Stanford University School of Medicine, whose team reported the findings on bioRxiv on Monday ahead of peer review.

Compiled by Karishma Singh; Editing by Robert Birsel

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What you need to know about the coronavirus right now - Reuters Australia

Written by Audrey Eaves

Advancements in science and technology have enabled the possibility of human genetic cloning and engineering. In contemporary society, these biological technologies are controversial. Many governmental, scientific, and religious organizations are fervently opposing genetic engineering due to controversy in the context of safety and moral outcomes. Nevertheless, advocates and supporters argue that these technologies are fundamental to providing remedies via regenerative medicine through genetically identical human cells, organs, or tissues. Other health areas such as cosmetic and reconstructive surgeries, infertility, burn treatments, heart disease, cancer, and diabetes can benefit from the new technologies available through gene therapies. Gene therapy can help millions suffering from disease and disorders. Biomedical researchers are working on effective solutions regarding some major genetic disorders such as sickle-cell and hemophilia, but there are always risks.

Genetic engineering certainly has its dilemmas, but it also has a moral and ethical value in contemporary society, therefore, a new branch of ethics is born: bioethics. Bioethics refers to the application of medical and biological sciences in appropriate, humane, and responsible ways. Supporters see genetic engineering and cloning as a viable way to duplicate organs and tissues for patients who otherwise would not be able to find transplants and could escape lifetimes of medications with undesirable side effects. Yet, some are concerned that if done incorrectly, genetic engineering could actually introduce new disorders that would subsequently circulate in the population and thus become a permanent aspect of the worlds population.

The majority of biomedical researchers view genetic engineering as a crucial tool for medicine, especially in the provision of solutions for diverse terminal health issues. Consider these daunting statistics from Kidney.org: the average wait time for a needed kidney is three to five years, and some patients cannot wait that long. According to another source, Donate Life America, 8,000 people die every year waiting for an organ, 80% of which are kidneys. However, in a world where slavery, human organ harvesting, and black markets continue to be a problem, genetic engineering and cloning could provide even darker opportunities for these human rights crimes. A realistic approach in the context of humanitys place in the world and a code of ethics to form the foundation of human genetic engineering practices is needed.

Religious factions are by no means the only moral compass of society, but they tend to be the loudest sounding alarms of anything that is morally questionable. While their objections sometimes (but not always) deviate from science and can frustrate progressive efforts, they provide a necessary role in a symbiotic system of checks and balances within the scientific communities they oppose. It is constructively beneficial that science should always be questioned and forced to prove itself before diving headfirst into the deep waters of the latest and greatest technological discoveries.

Embryonic engineering and cloning in particular draws criticism from people of various faiths who argue that the creation of embryos for the purposes of research does not respect life. A number of religious faiths assert that embryos should be assigned personhood. This particular characterization disarms objectification practices that are currently in place regarding human embryos. During the process of embryonic research, excess embryos are created and destined for destruction, which is another challenge for bioethics. However, this is nothing new, as the process of IVF does similarly for couples who struggle with infertility. Matters of human wastefulness always arise in these waters. Even with natural pregnancies, research shows that half of the embryos fail to implant or are lost. While embryonic loss does occur in natural pregnancies, most people do not equate laboratory embryonic loss with infant mortality, which implies they have a different moral value to most of society. Does regarding human embryos as mere objects that can be used in any desirable way make them lack the nascent aspect of human life and significance? Whatever side one falls on the argument, it is vital to encourage the cultivation of a society that views life as having great intrinsic value. This understanding and respect for life creates the difference between barbarism and civilization.

There are yet other faiths who place great spiritual importance on what goes inside their bodies. This can apply both to what is in their food as well as medical treatments. For these groups, there could be a moral dilemma posed by significant genetic modification of food and medicine. For example, various genes are being injected into peppers and tomatoes to make them grow faster and more hearty. Animal and human cells are also used in the production of some vaccines. This raises the question of how many human and animal genes can be present in vegetables or medicine without it being considered unsuitable for vegans or the millions of religious adherents who abstain from certain animal and human by-products, such as with Islam, Jehovahs Witnesses, and Judaism. While these unique groups of people are ultimately responsible for their own decisions, sensitivity to diverse belief systems must be a consideration of the scientific community as well.

Despite all the current ethical concerns regarding genetic engineering and human cloning, the practice still has tremendous potential in light of more conclusive scientific research studies on this particular subject. However, the challenges experienced in past genetic experiments should be a major factor in discouraging a rushed start of biogenetics. More research should be developed to review the ethical and moral considerations in genetic engineering practices. A full understanding of what we are doing and its consequences needs some time to catch up with the technology. Most important is the conviction and cultivation of a society that protects and enhances life in all of its scientific endeavors.

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Genetic Engineering and Ethics: Are We Ready? | The Voice - The Voice

Scientists at the University of Colorado School of Medicine, along with colleagues at UCHealth University of Colorado Hospital, have discovered specific genetic biomarkers that not only show who is infected with COVID-19, but offer insights into how severe the disease might be, filling a major diagnostic gap.

I think this study is a tremendous proof-of-concept in the realm of COVID-19 testing, one that can be applied to other diseases, said the studys lead author, Kathleen Barnes, PhD, professor at the CU School of Medicine. Its a major move forward in the world of precision medicine.

The study, published Tuesday in the journal Communications Medicine, suggests that specific signals from a process called DNA methylation varies between those infected and those not infected with SARS-CoV-2. And they can indicate the severity of the disease even in the early stages.

DNA methylation, critical in how cells function, is an epigenetic signaling tool that cells use to turn genes off. Any mistakes in the process can trigger a variety of disease.

Barnes believes that paying attention to these signals could help fill a needed gap in the current world of COVID testing. Most COVID-19 antigen or rapid tests are dependent on viral strains and can carry high false negative rates. They dont predict if the virus is viable and replicating, nor do they predict clinical outcomes.

A pre-symptomatic patient may test negative for the SARS-CoV-2 virus while patients who have recovered may still test positive despite no longer being infectious.

Accurate diagnostics are urgently required to control continued communal spread, to better understand host response, and for the development of vaccines and antivirals, the study said. Identification of which SARS-CoV-2 infected patients are most likely to develop severe disease would enable clinicians to triage patients via augmented clinical decision support.

But the authors said they didnt know of any test that can predict the clinical course of COVID-19.

With that in mind, they analyzed the epigenome in blood samples from people with and without COVID-19. They did this by customizing a tool from Illumina called the Infinium Methylation EPIC array to enhance immune response detection. Researchers then profiled peripheral blood samples from 164 COVID-19 patients and 296 control patients.

The peripheral blood DNA samples were collected from patients seen at UCHealth and tested for SARS-CoV-2 epigenetic signatures starting March 1, 2020. Most blood specimens were collected in the University of Colorado Emergency Medicine Specimen Bank under the direction of study co-author Andrew Monte, MD, PhD, and passed on to the Colorado Anschutz Research Genetics Organization (CARGO). Additional specimens were taken from patients consented to the University of Colorado COVID-19 Biorepository.

The researchers discovered specific genetic markers of SARS-CoV-2 infection along with indications of how severe the disease might be.

These signals of disease progression were present from the initial blood draw when first walking into the hospital, the study said. Together, these approaches demonstrate the potential of measuring the epigenome for monitoring SARS-CoV-2 status and severity.

According to Barnes, the findings could ultimately lead to a new and more accurate way to test for COVID-19.

We are exploring how this platform could add value to the COVID diagnostic world, she said. We think it adds value to knowing what patients develop more serious disease. This could tell you if you could ride out the infection or if it is likely to get worse.

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Genetic Markers May Predict Severity of COVID-19 Infection - CU Anschutz Today

CAMBRIDGE, Mass., Oct. 27, 2021 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, will report third quarter 2021 financial results after the Nasdaq Global Market closes on Wednesday, November 3, 2021. Subsequently, at 4:30 p.m. E.T., the Company will host a conference call to discuss its third quarter 2021 financial results and to provide a corporate update.

The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 7131019. Please specify to the operator that you would like to join the "Sarepta Third Quarter 2021 Earnings Call." The conference call will be webcast live under the investor relations section of Sarepta.com and will be archived there following the call for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

About Sarepta TherapeuticsSarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Investor Contact: Ian Estepan, 617-274-4052iestepan@sarepta.com

Media Contact: Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

Excerpt from:
Sarepta Therapeutics to Announce Third Quarter 2021 Financial Results and Recent Corporate Developments on November 3, 2021 - GlobeNewswire

GlaxoSmithKlines shingles vaccine Shingrix delivered a stellar quarter, but thanks in part to thedelta variant, it doesnt look like the shot will recover to last years levels.

Shingrix sales soared 41% at constant exchange rates to 502 million in the third quarter, which came 22% ahead of industry watchers expectations. It was an unusual performance given U.S. scripts remain way below last years levels.

To hear GSKs pharma chief Luke Miels tell it, the growth didnt come from people actually getting the vaccine from retail pharmacies. Instead, the showing was fueled by wholesale inventory buildingand a large proportion of injections came from doctors offices.

For the entire year, GSK expects Shingrix sales to follow a similar pattern as it had in the first nine months combined, which was a decline of around 11%, as many people prioritized their COVID-19 vaccinations.

RELATED:GlaxoSmithKline's 'much-needed' Shingrix rebound has yet to materialize, analysts say

Shingrixs drop indemand clearly correlated with a surge in the delta variant as people didnt want to go to retail pharmacies, Miels said during a conference call Wednesday. But the trend is pointing to recovery. In GSKs market research, among people who were fully vaccinated for COVID-19, a shingles vaccine was listed as the second shot they most wanted to get, behind a flu vaccine, Miels said.

When retail pharmacies started prioritizing COVID vaccinations, GSK made what then seemed like a risky move but is now paying off, Miels explained: It assigned themarketing team forrespiratory disease inhalation Trelegy to target doctors and promote the shingles vaccine. There may be some under-reporting of scripts at doctors offices, he noted.

Considering those factors and launches outside the U.S.,GSK is confident in Shingrixs recovery, Miels said. For 2022, GSK sees a record year for Shingrix with double-digit sales growth, he said. For the longer term, the company believes Shingrix could double its revenue in five years from 2020.

RELATED:GlaxoSmithKline to leave landmark global HQ after split-up as consumer health business plots 120M new home

Elsewhere in GSKs portfolio, Trelegy chalked up an impressive 77% sales increase in the third quarter to 326 million. The drug still holds 90% share in the three-in-one inhaler market in the U.S. despite the introduction of AstraZenecas rival Breztri a year ago.

The companys novel two-drug HIV regimen Dovato chipped in 110 million during the three months,more than doubling its sales from last year. Despite the pandemic suppressing overall drug switching, Dovato has gained share. Dovato holds 15.3% share of the switch market in the U.S. and 27.8% share in Europe, Deborah Waterhouse, CEO of ViiV Healthcare, told investors during the call.

ViiV is also on track for a major expansion. Cabotegravir, a component used in the companys long-acting HIV treatment Cabenuva, earned an FDA priority review last month as a PrEP option to prevent HIV. The once-monthly injection topped Gilead Sciences Truvada in two separate studies, threatening to disrupt the Big Biotechs billion-dollar monopoly.

RELATED:Spinoff or $54B sale? GlaxoSmithKline's consumer health outfit draws buyout interest: report

The drug portfolio aside, a lot of investor attention atGSK these days focuses on a planned demerger of the consumer health business. Media reports emerged a few days ago that suggested several private equity firms have circled the business for a potential buyout.

We are very committed to the demerger of at least 80% of our holding in consumer,GSK CEO Emma Walmsley said. Were absolutely on the runway for that. Weve had a tremendous amount of positive feedback from investors who are interested in owning this business.

GSK has been under pressure from activist investor Elliott Management to seek another path to separate the consumer health business. The fund has also questioned Walmsleys position at the pharma- and vaccines- focused GSKfor her lack of scientific background.

To increase the scientific expertise for GSKs board, the company on Wednesday said that Hal Dietz, M.D., a professor of genetic medicine at The Johns Hopkins University School of Medicine, will join the board starting first thing next year.

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GlaxoSmithKline: Don't count on a Shingrix rebound this year, but 2022 will bring 'record sales' - FiercePharma

Coagulation disorders refer to conditions that affect how the body controls blood clotting. If a persons blood does not clot, or coagulate, normally, they may experience complications from bleeding too much after injury or surgery or having blockages that prevent blood flow.

Coagulation disorders cause the body to form too many or too few blood clots. They are usually due to a genetic mutation and are often treatable with medications. Coagulation disorders can cause excessive bleeding if the body is unable to form blood clots properly. In other cases, they may cause the body to produce blood clots too readily and increase the risk of blocked blood vessels.

This article will discuss the different types, causes, and treatments of coagulation disorders.

Coagulation disorders are when the body has issues controlling blood clots. Coagulation refers to the process of forming blood clots our bodies rely on this vital process to help prevent excessive bleeding from an injured blood vessel.

Platelets are cell fragments present in the blood that help with the blood-clotting process by gathering at the site of an injury. They combine with proteins in blood plasma to form a blood clot and prevent leakage from the injury. This makes coagulation an important natural defense against injury. However, some people experience coagulation disorders that can result in too much or too little clotting.

Bleeding disorders are where the body is unable to form blood clots properly. These conditions are typically due to issues with blood clotting factors, which are proteins that help blood clots form. This can result in excessive bleeding from not forming enough clots or blockages from producing too much.

Examples of bleeding disorders where the body does not form enough blood clots include hemophilia and von Willebrands disease. Hypercoagulability describes excessive blood clotting, which can disrupt blood flow and increase the risk of problems that include deep vein thrombosis or pulmonary embolism.

People can either inherit or acquire coagulation disorders. This means individuals can get the condition from their parents or develop one during their lifetime, often from another condition or a medicine affecting blood clotting factors.

There are many types of coagulation disorders, including the below.

In rare cases, some people lack other clotting factors that may cause excessive bleeding, such as factors I, II, or V. Some individuals may also experience platelet disorders, which are rare conditions where the body produces too many, too few, or dysfunctional platelets.

People in hypercoagulable states are at risk of venous thromboembolism. This disorder causes blood clots to form in a deep vein that can break away and enter the lungs. In rare cases, individuals in hypercoagulable states could experience a blood clot that causes a heart attack or stroke.

People with bleeding disorders can experience symptoms that include:

Some causes can also lead to additional symptoms. For example, liver disease can cause tiredness, weakness, and a loss of appetite.

Additionally, people in hypercoagulable states could experience symptoms depending on the presence and location of a blood clot. For example, a blood clot near the heart or lungs could cause chest pain, shortness of breath, or discomfort around the upper body. These symptoms could indicate a heart attack or pulmonary embolism.

Symptoms of deep vein thrombosis typically include pain, swelling, and skin discoloring around the area of the blood clot, such as in the legs.

Genetics can cause many types of coagulation disorders. People inherit these genetic changes from their biological parents, or they acquire them after birth. Genes provide instructions for how the body makes blood clots some genetic mutations cause the body to make errors when forming blood clots, which can lead to a disorder.

For example, hemophilia is a condition that people usually inherit from a parent. It is due to a mutation on the X chromosome that affects clotting factors VIII or IX. Males typically possess one X chromosome and one Y chromosome, while females often have two X chromosomes. Due to only having one copy of an X chromosome, males are more likely to develop hemophilia.

Most people with von Willebrands disease inherit a genetic mutation that affects the production of von Willebrand factor. In rare cases, the mutation can occur spontaneously or due to another medical problem without a family history of the condition.

The cause of coagulation disorder is not always clear. For example, vitamin K deficiency bleeding could be due to babies who do not receive a vitamin K shot at birth, have liver or digestive diseases, or have a biological parent who uses certain medications, such as isoniazid.

Some risk factors for coagulation disorders can include:

Doctors will ask about symptoms and check a persons medical history to diagnose coagulation disorders. They will also ask about family members with any coagulation disorders, which could suggest inheritance of the same condition. A physical examination will also help identify visible symptoms, such as bruising and swelling.

If the doctor suspects a coagulation disorder, they will order additional tests to confirm the diagnosis. These could include:

The best treatment approach will depend on the type of coagulation disorder, its severity, and the persons overall health. Treatments typically aim to manage symptoms and reduce the risk of complications. Doctors might recommend one or more medications, including:

Doctors may also recommend other treatments, such as factor replacement therapy. This involves replacing missing clotting factors using blood donations or replacements from a laboratory.

People who experience a blood clot may need emergency care. A catheter-assisted thrombus removal involves a doctor using a flexible tube to break up blood clots they might insert vena cava filters into deep veins to catch blood clots before they travel to the lungs or heart.

It is essential to consult with a doctor about a coagulation disorder. The consequences of forming too few or too many blood clots can become life threatening without treatment.

Some coagulation disorders are present at birth, and a doctor might identify the problem right away. However, healthcare professionals will only screen for a coagulation disorder if there are certain risk factors, such as a biological parent with hemophilia.

It is vital to look out for symptoms and consult with a doctor immediately if there are signs of a coagulation disorder. For example, excessive bleeding, swelling, and easy bruising are all signs of a bleeding disorder.

Venous thromboembolism can also quickly become life threatening. Therefore, it is important for people to contact a doctor immediately if they notice warning signs, such as swelling, pain, and tenderness in the legs.

Coagulation disorders affect the bodys ability to form blood clots they either cause too few or too many blood clots, both of which can have severe consequences. Some coagulation disorders are genetic and can pass down through families. However, people can also acquire them during their lifetime from certain medications or conditions.

Anyone showing signs of a coagulation disorder should contact a doctor right away. Treatments will typically include one or more medications to manage the condition, while some people may need additional treatments, such as factor replacement.

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Coagulation disorders: Causes, symptoms, and treatments - Medical News Today

In genetic medicines, delivery is key. You want to make sure that the medicine reaches its destination in the body and doesnt cause any problems along the way. But before that, you want to ensure that the chosen delivery vehicle has enough room to carry everything it needs for the trip. ReCode Therapeutics is developing technology intended to improve on the capacity and the targeting of genetic medicines, and its first stops are the lungs.

ReCode has two programs on track toward clinical testing and the biotech has raised $80 million to advance those programs and others. Pfizer Ventures and EcoR1 co-led the Series B round of funding announced Thursday.

Many of the genetic medicines that are available as well as some still in development use engineered viruses for delivery. These viruses are very good at getting into a cell, but the body sees them as foreign, so the immune system creates antibodies against them. That means viral delivery can only be used once in a patient. Viruses can also spark dangerous side effects.

ReCode avoids the limitations of viruses by using lipid nanoparticles (LNPs). These particles are made from cholesterol and lipids, a type of fat, so the body is familiar with them, CEO David Lockhart said. That familiarity reduces the risk of an immune response. Furthermore, because LNPs dont cause the immune system to produce antibodies, they can be redosed if needed. Just as important, these particles can be designed to go to specific tissues in the body.

Weve only scratched the surface, Lockhart said. We can do even more with targeted delivery to more cell types, tissue types, beyond the liver, lung, and spleen.

LNPs have a preference for going to the liver. Thats great for genetic medicines for liver diseases, and companies such as Alnylam Pharmaceuticals have used that preference and optimized it for therapies that reach liver cells. Genetic medicines employ three or four lipids in their LNPs. ReCode adds a fifth one. The companys delivery technology comes from the lab of University of Texas Southwestern Medical Center Professor Daniel Siegwart, a co-founder of the company. Lockhart said that adding a fifth lipid changes how the LNP binds to proteins in the blood in way that removes the liver as a target, and enables delivery to other targets in the body. The technology is called Selective Organ Targeting, or SORT. In addition to the ability to target, Lockhart said that ReCodes LNPs offer greater capacity than viruses as well as the ability to carry mixed payloads of genetic cargo.

ReCode has two lead programs that are preclinical. One is for primary ciliary dyskinesia (PCD), a disease that causes dysfunction in cilia, organelles that extend from cells. The other is for cystic fibrosis (CF), a disease that leads to fluid buildup in the lungs. Both have defined genetic causes, but PCD has no treatments and while Vertex Pharmaceuticals has developed drugs that address various genetic mutations, Lockhart noted that about 10% to 13% of CF patients dont respond to those therapies.

ReCode aims to treat PCD and CF by delivering RNA and gene correction therapies. The first therapies that the company is developing are inhaled medicines for delivery to the epithelial cells that line the lung. These therapies wont need to be targeted as inhalation gets the medicine where it needs to go. But Lockhart noted that for some lung disorders, delivery to the endothelial cells that line blood vessels is needed. Those drugs, such as a gene correction CF therapy ReCode is developing, will employ SORT.

The new financing will be used to move both the PCD and CF programs closer to the clinic. Lockhart said that the preclinical research that supports an investigational new drug application (IND) will begin in the first half of next year, followed by an IND filing in the second half. Some of the capital will be used to develop additional programs that are also for respiratory disorders with defined genetic causes.

There are other companies trying to take LNPs beyond the liver. The technology of Georgia Tech spinout Guide Therapeutics screens for LNPs that can be used to deliver RNA to cells throughout the body. Beam Therapeutics saw enough promise in the approach to commit $120 million to acquire the startup earlier this year.

Though the delivery capability of ReCodes technology has applications beyond the lung, the company has no plans to pursue all of them. Lockhart said ReCode will keep respiratory disorders as a focus while exploring partnerships with other companies interested in applying the technology to diseases affecting other parts of the body. In the nearer term, ReCode will be building its own manufacturing capabilities to support its clinical trials.

ReCode raised $80 million in Series A funding last year. The latest financing added new investors Sanofi Ventures, funds managed by Tekla Capital Management, Superstring Capital, and NS Investment. Earlier investors participating in the new round include OrbiMed, Vida Ventures, MPM Capital, Colt Ventures, Hunt Technology Ventures, and Osage University Partners. Though Pfizers venture arm did co-lead the financing, Lockhart said that the pharma giant only gets a board seat and has no inside track to SORT.

Theyre very excited about the technology, he said. They basically want to have a front row seat. We were very clear that there was no coupling of rights, no guarantees of access to the technology.

Photo by ReCode Therapeutics

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ReCode Therapeutics gets $80M to deliver on new RNA therapies for the lungs - MedCity News