Category Archives: Genetic medicine

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When youve lived through two-plus years of a pandemic, it can feel weird to see disease and good news in the same sentence. But here we are, watching a disease decline, with cautious optimism. Two weeks ago, the World Health Organization announced that monkeypox cases in Europe had fallen so fast, the outbreak could be eliminated there. And while the U.S. recently experienced its first monkeypox death, cases here have fallen by 40 percent between the middle and end of August. In other words, its too early to declare victory and dust off our hands, but the situation is generally improving.

This news shows that public health officials and the public itself got some important stuff right in combating this serious illness. But monkeypox is also a reminder that humans will encounter many potentially dangerous new diseases. COVID wasnt the first, or the last. What stops most diseases from becoming pandemics is as much about luck as it is about human intervention.

This spring, many of us braced ourselves for the worst. Monkeypox seemed mysterious, and cases of it were soaring. But a positive outcome was not surprising to the scientists who study the disease. One of the difficulties Ive faced in public communication is trying to get people to understand that none of us who work in public health thought the sky was going to be falling from monkeypox, said Jay Varma, a professor of population health sciences at Weill Cornell Medical College. We were just concerned that a lot of people were going to suffer needlessly because we had a diagnostic test, a drug to treat this and a vaccine to prevent it all stockpiled. Monkeypox was, in other words, a serious disease that needed attention to make sure vulnerable groups were protected, but it was never likely to become the same kind of massive problem as COVID-19.

In August, scientists surveyed more than 800 men who have sex with men, trying to find out how monkeypox and the education campaigns surrounding it had affected their lives. According to results published by the Centers for Disease Control and Prevention, about half of the men made some important changes to their behavior. Of the 824 surveyed, 48 percent reported reducing their overall number of sex partners, 50 percent said they had reduced their one-time sexual encounters and 50 percent said they had reduced sex with people they met on dating apps and in sex clubs. Those voluntary behavioral changes as well as the public health campaigns that inspired them have been particularly crucial to curbing monkeypox, said Varma and Rodney Rohde, a professor of clinical laboratory science at Texas State University.

Thats because other studies have shown that while one-night stands account for only a fraction of sex happening daily among men who have sex with men about 3 percent of daily sexual relationships those interactions are responsible for about half of daily monkeypox transmissions.

Vaccination campaigns have also been important, but the behavioral changes seem to be more widespread in the high-risk community than vaccination has been, Varma said. The original guidance from the CDC has been refreshingly frank and honest and transparent about what are the behaviors that put people at highest risk and what are the ways in which you can minimize your risk, without questioning whether sex is an essential activity to life, he said.

But had the monkeypox outbreak happened just a few years ago, it might not have been on the radar of anyone outside the most affected communities. Dr. Sonja Rasmussen, a Johns Hopkins University professor of genetic medicine who worked at the CDC for 20 years, remembers a former director at the agency often saying that when public health did its job well, we never heard about it.

New diseases are popping up and entering the U.S. all the time, according to Rasmussen and the other experts I spoke with. But SARS-CoV-2 aside, most of them are swiftly and effectively shut down by the hard work of public health. Remember that MERS outbreak when there were two cases in the U.S.? she asked, referring to the time in May 2014 when a particularly deadly cousin of COVID cropped up in unlinked cases in Indiana and Florida. People would say, I dont even remember that. And thats because we dealt with it.

Were more likely to hear about these diseases now because everyone is much more primed to pay attention after a couple of years of COVID. But the reality is that thousands of people nationwide are working to ensure those diseases dont spread unnoticed, that the highest-risk populations are treated, and that we dont end up constantly marinating in preventable pandemics. Thats the good news.

The bad news: Not every pandemic is a preventable one. We did get a little lucky [with monkeypox], Rohde said. Yes, theres pain involved and some risk of death, but if and when this disease is nipped in the bud, that will be in part because the virus makes itself relatively easy to prune. Its not a respiratory virus that people can easily spread to strangers at the bus stop. The mode of transmission, primarily through sex, limits who can spread to whom. The transmission rate is also different from that of COVID, he said. And the mode of transmission means the virus affects primarily a high-risk group rather than all of society, so its easier to change behavior and administer pharmaceutical treatments. Monkeypox is also a DNA virus, not an RNA virus like SARS-CoV-2, so it mutates less than COVID and can be prevented with older, existing vaccines. Those are the kinds of outbreaks humans can stop from turning into pandemics. Of course, both scientists and the public have to take action when they pop up, but its relatively easy to manage.

Most new or new-to-us diseases that appear will have more in common with monkeypox than with COVID. Theyll be dealt with. And youll forget you ever saw them on the news. But, eventually, another pathogen will come along thats more challenging just by its nature another fast-spreading, fast-mutating respiratory virus that hits everybody all at once. I am concerned as we move away from COVID that were going to say, Thats our pandemic. We dont need to fund [public health infrastructure] anymore, Rasmussen said.

Unfortunately, one of the biggest takeaways from this monkeypox outbreak and how it was handled is a paradox. You dont need to assume that every new disease you hear about will be another uncontrollable pandemic, so you can let that tension go. But, at the same time, that doesnt mean another pandemic wont happen in your lifetime. Somebody needs to be on the job, paying attention.

It doesnt matter if youre tired, if youre fatigued, if youre done with it, Rohde said. Those [infectious diseases] dont care. They never get tired.

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Why Monkeypox Wasnt Another COVID-19 - FiveThirtyEight

MANHASSET, N.Y.--(BUSINESS WIRE)--Since 2016, scientists at The Feinstein Institutes for Medical Research have studied the genetic and cellular makeup of menstrual blood or menstrual effluent (ME) to diagnose endometriosis. Today they published a new study in Springer Natures BMC Medicine that shows their ability to use ME to identify patients who may have endometriosis.

Endometriosis occurs when uterine-like tissues grow outside of the uterus and form lesions. The condition affects one in 10 reproductive-age females, resulting in chronic, often debilitating pain or infertility and other medical complications. Due to the lack of non-surgical diagnostic tools, it can often take seven to 10 years to be diagnosed with endometriosis. Currently, invasive laparoscopic surgery is the only definitive diagnostic method.

The research, led by Peter Gregersen, MD, and Christine Metz, PhD, analyzed the genetic and cellular differences in healthy controls versus endometriosis subjects to find common biomarkers that could lead to new diagnostic approaches and potential treatments. Building off more than seven years of research, the new study published in BMC Medicine outlines the first use of single-cell RNA-sequencing (scRNA-Seq) to compare endometrial tissues in freshly collected ME from 33 study participants.

Millions of adolescents and women suffer from endometriosis without a proper diagnosis, delaying their care and extending their pain, said Dr. Metz, professor in the Institute of Molecular Medicine at the Feinstein Institutes and co-director of Research OutSmarts Endometriosis (ROSE) study. This new paper describes the potential for a novel screening tool to identify endometriosis earlier and enable patients to get the help they need.

The published study shows for the first time that the characteristics of endometrial tissue that shed into ME are distinct in patients with endometriosis compared to control (healthy) subjects. When combined with clinical symptoms, there is a potential to use ME to screen or diagnose adolescents and women who may be suffering with symptoms of endometriosis.

ROSE study research helps us understand the molecular and genetic makeup of endometrial tissues in ME from women with endometriosis, said Dr. Gregersen, professor in the Institute of Molecular Medicine at the Feinstein Institutes and co-director of the ROSE. More than 2,000 women have participated in the ROSE study to date and we are grateful to them for helping us to produce knowledge that will improve patients lives.

In order to further validate these findings, the team has recently initiated a new clinical trial to compare ME from symptomatic women who have not been diagnosed but will undergo the necessary surgery as part of their standard care to determine if they have the condition. Studies are also underway to investigate ME in symptomatic and non-symptomatic adolescents to predict endometriosis at earlier ages and stages.

While endometriosis is a common condition, there continues to be a lack of diagnosis and proper early intervention, said Kevin J. Tracey, MD, president and CEO of the Feinstein Institutes. These important findings by Drs. Gregersen and Metz hold promise to change our understanding of this disease and focus on improving the diagnosis and care they need.

About the Feinstein Institutes

The Feinstein Institutes for Medical Research is the home of the research institutes of Northwell Health, the largest health care provider and private employer in New York State. Encompassing 50 research labs, 3,000 clinical research studies and 5,000 researchers and staff, the Feinstein Institutes raises the standard of medical innovation through its five institutes of behavioral science, bioelectronic medicine, cancer, health system science, and molecular medicine. We make breakthroughs in genetics, oncology, brain research, mental health, autoimmunity, and are the global scientific leader in bioelectronic medicine a new field of science that has the potential to revolutionize medicine. For more information about how we produce knowledge to cure disease, visit http://feinstein.northwell.edu and follow us on LinkedIn.

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Endometriosis Researchers One Step Closer to Diagnosing Condition With Menstrual Blood - Business Wire

The relatively short history of cell and gene therapy is not lacking in dramatic moments. A previous outlier, this vibrant field now represents the next great hope and so, when roadblocks to progress are removed or even lowered, theres reason to celebrate. Here, seven members of The Medicine Maker Power List 2022, reflect on the most impactful cell and gene milestones.

There have been many significant breakthroughs in cell and gene therapy over the past few years. Specifically in gene-modified cell therapy, the CAR T story is remarkable. Over the past several years, multiple autologous CAR T therapies have been successfully translated from bench to bedside and received marketing authorization as potentially curative therapies for patients with recalcitrant cancer indications: Kymriah and Yescarta for treating r/r/ ALL, MCL, and LBCL, and Abecma for treating r/r multiple myeloma.

Equally impressive in gene therapy, Zolgensma, an AAVSMN1 gene replacement product, has been developed for use as a one-time gene replacement treatment for infants with spinal muscular atrophy (SMA). The 15 year follow-up study these tiny patients are enrolled in after treatment will inform us on the long-term safety and efficacy of gene replacement therapy.

These products have been translated by academia and SMEs and partnered for advanced development with pharma to achieve both medical and commercial success.

The biggest breakthrough is our increasing ability to edit genes with a growing number of new classes of gene editing tools. This advance has led to the boom of CAR T products and is opening the path to cell engineering and in vivo gene therapy.

In parallel, we are seeing an evolution from viral delivery to alternatives with growing payload capacity. This will, as we are already seeing, lead to cures in diseases where that was unthinkable before!

Cell and gene therapies are at the forefront of innovation and transforming how we treat and potentially cure certain diseases. Cell and gene therapies(CGTs) have the potential to treat severe diseases, such as cancer, as well as rare diseases. Several such therapies are now on the market, including a treatment for an inherited retinal disease that causes blindness. That particular CGT represents an important medical milestone because it was the first curative gene therapy approved for use. Personally, I was excited and humbled at the same time to have been the Global Head bringing this transformational therapy to patients around the world. Many other CGTs are now in development and hopefully will lead to an expansion of the still-limited treatment options available to many patients and transform the clinical paradigm.

An important breakthrough? The demonstration that gain-of-function genetically weaponized somatic cells are potent pharmaceuticals in their own right: living synthetic therapeutics (LSTs).Case in point, after a quarter century of work with TILs and LAKs struggling to meet utilitarian endpoints, enter gain-of-function CAR engineering, and thus history is made.The same paradigm of cell gain-of-function genetic enhancement can readily be applied to alternate somatic cell platforms think MSCs and iPSCs with a limitless potential to improve clinical outcomes for acute and chronic ailments.

Id like to emphasize three milestones. First, the commercialization of gene therapies in general. The efficacy and safety have improved a lot since the 1990s.

Secondly, the explosion of immunotherapies. Onco-hematology has become a major opportunity for patients with otherwise lethal blood cancers.

Finally, the advances in gene editing technologies. These have opened the door to new therapies which we would have considered utterly incredible a few years ago.

The recent approval for Yescarta in second-line (2L) relapsed/refractory large B-cell lymphoma (LBCL) means that an order-of-magnitude more patients just became eligible for potentially curative therapies. One recent industry insight from Celltelligence suggested that moving from 3L to 2L will potentially double the targetable population in diffuse LBCL alone for CAR T cell therapy. As cell therapies move up the treatment paradigm and cell-based therapeutics are eventually approved to treat a range of cancers, the spotlight will turn (again) to manufacturing capacity. At Cellares, our belief is that high-throughput, end-to-end automation is set to revolutionize cell therapy manufacturing, allowing us to deliver more doses at lower cost to meet the demand. Its a truly exciting time for our industry!

The success of the CAR T cell therapy approach and how it has led to cures for childhood leukemias and lymphomas is an amazing story. Thanks to these incredible advances, kids who would no longer be here today are now effectively cured, and are going to live long, relatively healthy lives without suffering the long-term side effects of traditional chemotherapy and radiation. By allowing investigators to be highly creative in developing this approach, a fascinating new treatment process was developed, for both autologous and allogeneic CAR T cell therapies. Now, an entire industry has been born from utilizing patients and donors stem cells and a modified version of the AIDS virus to cure leukemia. This is truly a mind-blowing advancement that combines so many complex processes and biologics and really showcases the power of creative investigators to come up with amazing new treatment solutions.

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The Biggest CGT Breakthroughs Through the Eyes of Our 2022 Power List - The Medicine Maker

When the first humans moved out of Africa, they carried their gut microbes with them. Turns out, these microbes also evolved along with them.

The human gut microbiome is made up of hundreds to thousands of species of bacteria and archaea. Within a given species of microbe, different strains carry different genes that can affect your health and the diseases youre susceptible to.

There is pronounced variation in the microbial composition and diversity of the gut microbiome between people living in different countries around the world. Although researchers are starting to understand what factors affect microbiome composition, such as diet, there is still limited understanding on why different groups have different strains of the same species of microbes in their guts.

We are researchers who study microbial evolution and microbiomes. Our recently published study found that not only did microbes diversify with their early modern human hosts as they traveled across the globe, they followed human evolution by restricting themselves to life in the gut.

We hypothesized that as humans fanned out across the globe and diversified genetically, so did the microbial species in their guts. In other words, gut microbes and their human hosts codiversified and evolved together just as human beings diversified so that people in Asia look different from people in Europe, so too did their microbiomes.

To assess this, we needed to pair human genome and microbiome data from people around the world. However, data sets that provided both the microbiome data and genome information for individuals were limited when we started this study. Most publicly available data was from North America and Western Europe, and we needed data that was more representative of populations around the world.

So our research team used existing data from Cameroon, South Korea and the United Kingdom, and additionally recruited mothers and their young children in Gabon, Vietnam and Germany. We collected saliva samples from the adults to ascertain their genotype, or genetic characteristics, and fecal samples to sequence the genomes of their gut microbes.

For our analysis, we used data from 839 adults and 386 children. To assess the evolutionary histories of humans and gut microbes, we created phylogenetic trees for each person and as well as for 59 strains of the most commonly shared microbial species.

When we compared the human trees to the microbial trees, we discovered a gradient of how well they matched. Some bacterial trees didnt match the human trees at all, while some matched very well, indicating that these species codiversified with humans. Some microbial species, in fact, have been along for the evolutionary ride for over hundreds of thousands of years.

We also found that microbes that evolved in tandem with people have a unique set of genes and traits compared with microbes that had not codiversified with people. Microbes that partnered up with humans have smaller genomes and greater oxygen and temperature sensitivity, mostly unable to tolerate conditions below human body temperature.

In contrast, gut microbes with weaker ties to human evolution have traits and genes characteristic of free-living bacteria in the external environment. This finding suggests that codiversified microbes are very much dependent on the environmental conditions of the human body and must be transmitted quickly from one person to the next, either passed down generationally or between people living in the same communities.

Confirming this mode of transmission, we found that mothers and their children had the same strains of microbes in their guts. Microbes that were not codiversified, in contrast, were more likely to survive well outside of the body and may be transmitted more widely through water and soil.

Our discovery that gut microbes evolved right along with their human hosts offers another way to view the human gut microbiome. Gut microbes have passed between people over hundreds to thousands of generations, such that as humans changed, so did their gut microbes. As a result, some gut microbes behave as though they are part of the human genome: They are packages of genes that are passed between generations and shared by related individuals.

Personalized medicine and genetic testing are starting to make treatments more specific and effective for the individual. Knowing which microbes have had long-term partnerships with people may help researchers develop microbiome-based treatments specific to each population. Clinicians are already using locally sourced probiotics derived from the gut microbes of community members to treat malnutrition.

Our findings also help scientists better understand how microbes transition ecologically and evolutionarily from free-living in the environment to dependent on the conditions of the human gut. Codiversified microbes have traits and genes reminiscent of bacterial symbionts that live inside insect hosts. These shared features suggest that other animal hosts may also have gut microbes that codiversified with them over evolution.

Paying special attention to the microbes that share human evolutionary history can help improve understanding of the role they play in human well-being.

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Humans evolved with their microbiomes like genes, your gut microbes pass from one generation to the next - The Conversation

Krzysztof J. Misiukiewicz, MD, discusses when targeted therapy may be used for patients with NTRK-positive thyroid cancer.

Krzysztof J. Misiukiewicz, MD, associate professor of hematology and medical oncology at the Icahn School of Medicine at Mount Sinai and clinical director of the Center for Personalized Cancer Therapeutics at the Tisch Cancer Institute, discusses when targeted therapy may be used for patients with NTRK-positive thyroid cancer.

Misiukiewicz says that patients with thyroid cancer will first receive surgery and/or radioactive iodine therapy. Those who continue to progress following total thyroidectomy and receiving radioactive iodine need further treatment. Genetic testing can reveal potential targets for therapy including RET, BRAF V600E, and NTRK, which have different recommended regimens.

Those who have an NTRK fusion, are iodine-refractory, and have no alternative treatment options are eligible for the NTRK inhibitors larotrectinib (Vitrakvi) and entrectinib (Rozlytrek). These therapies are approved for patients with any solid tumor with an NTRK fusion, which can also include salivary gland tumors and soft tissue sarcoma.

According to Misiukiewicz, larotrectinib would be his preferred next line of therapy for any patient with iodine-refractory thyroid cancer with an NTRK fusion based on the efficacy seen with NTRK inhibition.

TRANSCRIPTION:

0:08 | In thyroid cancer, we treat patients [who] are iodine-refractory, meaning that they underwent total thyroidectomy; they underwent treatment with radioactive iodine and for any reason, those treatments were not effective, and the cancer is still progressing, so we label those patients as iodine-refractory patients. In those situations, those patients are being referred to me, where I do first genetic testing. And then I would consider treating those patients with larotrectinib. So they have to have evidence of progressive cancer that hasn't responded to previous treatments such as surgery or radioactive iodine.

Whenever I have [patients with] the NTRK-positive disease, I prefer targeted therapy. Currently we have 2 drugs on the market that are approved; my preferred drug is larotrectinib. That is approved for NTRK-mutated patients. And this is the drug that usually I choose when I have patients with the NTRK-positive mutation.

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When to Use Targeted Therapy for Iodine-Refractory Thyroid Cancer - Targeted Oncology

SAN DIEGO, Calif., and SUZHOU andSHANGHAI, China, Sept. 14, 2022 /PRNewswire/ -- Gracell Biotechnologies Inc. (NASDAQ: GRCL) ("Gracell"), a global clinical-stage biopharmaceutical company dedicated to discovering and developing highly efficacious and affordable cell therapies for the treatment of cancer, today announced that the management team will participate in and attend one-on-one meetings at three investor conferences in September 2022 as follows:

Citi Hong Kong China Corporate Day VirtualOne-on-one meetings: Tuesday, September 20, 2022 Wednesday, September 21, 2022

Cantor Oncology, Hematology & HemeOnc ConferencePanel Presentation: Wednesday, September 28 at 4:15 p.m. ETOne-on-one meetings: Wednesday, September 28, 2022Location: New York, NY

Jefferies Cell & Genetic Medicine SummitFireside Chat: Friday, September 30 at 2:00 p.m. ETOne-on-one meetings: Friday, September 30, 2022Location: New York, NY

A webcast of the fireside chat will be available on the News and Events section of Gracell's investor website. A replay of the webcast will be available for 30 days following the event.

About Gracell

Gracell Biotechnologies Inc. ("Gracell") is a global clinical-stage biopharmaceutical company dedicated to discovering and developing breakthrough cell therapies. Leveraging its pioneering FasTCAR and TruUCAR technology platforms and SMART CARTTM technology module, Gracell is developing a rich clinical-stage pipeline of multiple autologous and allogeneic product candidates with the potential to overcome major industry challenges that persist with conventional CAR-T therapies, including lengthy manufacturing time, suboptimal cell quality, high therapy cost and lack of effective CAR-T therapies for solid tumors. For more information on Gracell, please visit http://www.gracellbio.com and follow @GracellBio on LinkedIn.

Media contactMarvin Tang[emailprotected]

Investor contactGracie Tong[emailprotected]

SOURCE Gracell Biotechnologies Inc.

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Gracell Biotechnologies to Participate in Three Upcoming Investor Conferences - PR Newswire

Because CRISPR applications promise so many benefits, we are impatient to see them realized. Indeed, we may complain that the development of CRISPR therapies is too slow. Nonetheless, a handful of CRISPR therapies have advanced to the early stages of clinical trials, including therapies for sickle-cell anemia, HIV disease, and acute myeloid leukemia.

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We are eager to see CRISPR succeed not just in medicine, but in other application areas where humanity faces serious challengesareas that include crop production, bioenergy, manufacturing, and environmental remediation. To hasten progress in all these areas, scientists are working diligently to add tools to the CRISPR toolbox.

Were starting to see CRISPR-edited agricultural products now, Doudna noted. Well see many more over the coming years addressing issues like food security, drought and flood tolerance, reducing pesticide and fertilizer use, eliminating agricultural emissions, as well as carbon removal and sequestration.

For all of the uncertainty that lies ahead, one thing we can all be sure about is that CRISPR will likely have a role in shaping the future of individuals and the planet.

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CRISPR is 10: A decade of gene editing refinements presents new ways to address agricultural diseases thought to be incurable - Genetic Literacy...

- Recipients include 15 individuals living with Duchenne and five siblings in Duchenne families

CAMBRIDGE, Mass., Sept. 07, 2022 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc.(NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced twenty recipients of Route 79, The Duchenne Scholarship Program for the 2022-2023 academic year. The Program was created in 2018 to recognize exceptional individuals living with Duchenne muscular dystrophy as they pursue their post-secondary education. Now in its fifth year, the Program was expanded to include siblings of individuals with Duchenne in recognition of the impact that a diagnosis of Duchenne may have on the entire family. Recipients of the scholarship are chosen by an independent selection committee composed of Duchenne community members, who consider each applicants community involvement and personal essay. Each student will receive a scholarship of up to $5,000.

On behalf of Sarepta and the selection committee, we are thrilled to announce the recipients of Route 79, The Duchenne Scholarship Program, for the 2022-2023 academic year. These twenty outstanding students are exemplary in their commitment and dedication to their studies. In addition to conveying their intellectual curiosity, the essays from this years recipients spoke to the power and strength of community and the importance of advocating for growth and change at a personal and societal level, said Diane Berry, senior vice president, Global Health Policy, Government and Patient Affairs, Sarepta. We are honored to support these young adults as they pursue their educational goals, and we wish them great success in the school year ahead and wherever their academic journey takes them.

2022 Recipients Individuals Living with Duchenne

Porter Aydelotte, California State University, Long Beach

Jared Conant, University of Southern Maine

Aiden Fecteau, Eastern Connecticut State University

Bryson Foster, University of North Carolina, Charlotte

Yuvaraj Gambhir, University of Pennsylvania

Maanav Gupta, University of Houston

Ethan Higginbotham, Wichita State University

Elliott Johnson, Lebanon Valley College

Joshua Jurack, James Madison University

John McConnell, Boise State University

Josh Pflueger, Texas Christian University

Robert Sullivan, John Carroll University

Tayjus Surampudi, Harvard University

Joseph Ware, Liberty University

Jack Wolf, University of Akron, Main Campus

2022 Recipients Siblings in Duchenne Families

Luke Kieser, Indiana Institute of Technology

Grace Lee, University of San Diego

Zoie Liska, Wichita State University

Dylan Malone, University of Mississippi Medical Center

Reese Manderfield, University of Iowa

In addition to application review by the independent committee, submissions are de-identified for the voting panel with no indication of whether the candidate has received, or plans to receive, a Sarepta therapy.

AboutRoute 79, TheDuchenne Scholarship Program

Route 79, TheDuchenne Scholarship Program is designed to help students with Duchenne and siblings of individuals living with Duchenne pursue their post-secondary educational goals. There are 79 exons in the dystrophin gene impacted by Duchenne, and the route traveled by every person impacted by Duchenne is distinct. Sareptas goal through this program is to acknowledge and support individuals with Duchenne and their siblings, who are mapping out their future via educational pursuits.Scholarship recipients are chosen by an independent committee of Duchenne community members based on an applicants community involvement, personal essay, and recommendation letter. Additional information is available at https://www.sarepta.com/route79.

About Sarepta Therapeutics

Sarepta 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 visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We 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, 617-274-4052

iestepan@sarepta.com

Media Contact:

Tracy Sorrentino, 617-301-8566

tsorrentino@sarepta.com

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Sarepta Therapeutics Announces Recipients of Route 79, The Duchenne Scholarship Program, for ... - The Bakersfield Californian

Experts discuss solving the EHR-compatibility puzzle in point-of-care trials.

Editors note: Industry recognition for the clinical research as a care option, or CRAACO, movement goes to The Conference Forum, which has hosted the conference of the same name, for seven years. This years CRAACO event was held Sept. 12 and Applied Clinical Trials, at the time of this writing, is looking forward to attending and learning more from many of the speakers featured in this article.

At the Icahn School of Medicine at Mount Sinai, researchers are laying the groundwork for future massive genotype-based studies. Within three to six years, the database is expected to hold the sequenced DNA samples of one million peopleall patients of the Mount Sinai Hospital System.

In Oregon and California, researchers wanted to see if people who were overdue for a colon cancer screening test would take one if they were mailed a FIT test. It took one year to identify 41,193 people in 26 federally qualified health clinics.1

And in the Northwell Health System, researchers culled their electronic health record (EHR) system for patients with specific COVID-19 symptoms to help them determine whether the use of famotidine would shorten the number of days a COVID patient contended with symptoms. They found 55 fitting the bill within six weeks.2

At the University of California, San Francisco, and across the country at Temple University Hospital, oncologist researcher Laura Esserman, MD, MBA, and pulmonologist Gerard Criner, MD, respectively, have been using their EHR systems for years to run pragmatic trials and to find eligible clinical trial patients in their respective clinics.3,4 Once found, the medical teams embed the trial into patient care.

If you are wondering if this article concerns EHRs and compatibility, youd be correct. If you are thinking it concerns ways in which clinical trials can be run with less money and fewer data points, youd also be accurate. And if you think its about improving patient care where they receive careall while advancing researchyou are spot on.

What these researchers are doing bears little resemblance to the classic, rigidly run, interventional clinical trial. Trial phases blend into one another. In some cases, molecules under inspection that arent working are eliminated as early as possible from the trial; molecules that do work are tested under more scrutiny. With clinical trials, time means money.

A key point: All enrolled patients were found after serious mining into the providers EHR. So yes, point of care works in large healthcare establishments, with fluid EHR systems. So yes again, point of care is not a routine approach in most trials. A serious problem, says Amy Cramer, director of global product development strategic partnerships at Pfizer and the steering committee board co-chair for the HL7 FHIR Accelerator Vulcan, is that most trials are still conducted using paper processes. Researchers need the data before the trial is started, she adds.

It is all about the technology, Christina Brennan, MD, vice president, clinical research at Northwell Health, tells Applied Clinical Trials. We wouldnt have been able to do [the famotidine trial] without the EHR system, she says. Everything Northwell could determine about its potential recruitment prospects came from its system, as did all inputted data that led to results. We screened thousands of patients for eligibility.

At Temple University Hospital, running trials and treating patients have gone hand in hand for a few years. Our clinical research program is not separate from our clinical care or our academic mission, said Criner, also chair and professor, Thoracic Medicine and Surgery, Lewis Katz School of Medicine at Temple University; and director, Temple Lung Center, in a published interview3, who also reviewed this included information for accuracy. If you embed it into your care program and your care program has to address what the needs of the patient community you treat are, you cant help but make everything betteryour research, clinical care, and training.

As to what this clinical trial approach is called, there is no universal name. Brennan says she didnt think point of care was applicable, and preferred clinical research as a care option, or precision/personalized medicine.

According to FDAwhich, by the way, is a big supporter of embedding clinical research at the point of carePoint of care trials take place in a clinical practice environment and make use of clinical infrastructure and personnel for trial-related activities. A successful trial, an agency spokesperson continued, may shorten the time needed to obtain safety and efficacy data for medical products.

But do not think these trials are allowed to confuse real-world data (RWD) with real-world evidence (RWE). FDA, in its 2018 framework document,5 defined RWD as the data relating to patient health status and/or the delivery of health care routinely collected from a variety of sources, and RWE is the clinical evidence regarding a medical products use and potential benefits or risks derived from analysis of RWD.

Says researcher Rachele Hendricks-Sturrup, DHSc, research director for real-world evidence at the Margolis Health Center at Duke University: Healthcare data is not real-world evidence until it is combined with real-world data.

Taking the 30,000-foot view, Jodyn Platt, PhD, MPH, an assistant professor of learning health sciences at the University of Michigan, says health care should be viewed as a point of learning. Theres a fine line between quality improvement and research in order to learn from that data to give better care.

But it could be worth it, Platt says. If researchers have the opportunity to use a system that allows them to see what is done correctly or not, we have the potential for making the [healthcare system] better for everyone, she says. If we can think strategically, we can make the process better.

Esserman, who built her approach to breast cancer trials in the early 2010s, described how the process works at the UCSF Breast Cancer Center. All registration data are collected and cleaned within 24 hours.4

Each patients information regarding response to the therapy is used to build on to the next patient. This is all about finding early indicators of response and eliminating data detritus, which, says Esserman, clouds results.

The idea, she adds, is to have real-time data collection. All data sets must be complete before randomization, Platt says. We are trying to focus on the data that inform the primary endpoints, so that we are less burdened with data of ancillary interest.

She elaborates that most data, 90%, collected in trials is irrelevant because it is never used or not germane to the primary endpoint. And since all data collection requires time and money, more thoughtful decisions about what to collect matters.

It is a model other are adopting or participating in, including FDA and the National Cancer Institute.7

In Northwells double-blind, placebo-controlled study on famotidine, researchers collected 1,358 data points from 55 patients with COVID; one arm got the famotidine, the other, placebo. Those in the control arm improved three days more quickly. All samples and all treatment were administered in the patients homes. The cost of the trial was less than $1.5 million.2 The success of the study and its cheaper cost have convinced Northwell that the model is worth incorporating into their trial formats. Along with this more patient-centric approach, Brennan says that hybrid trials are being requested more by sponsors.

Between 2014 through 2016, Mount Sinai used EHRs to find 2,050 patients of West-African ancestry with hypertension, no chronic kidney disease, and genotyped them for the APOL1 risk variant, which could be deadly for those subgroups.6 Once patients were found through the EHRs, study coordinators mailed invitations and then followed up with phone calls of those who declined, and intercepted potentially eligible patients at clinics when they were hard to reach, according to the study. The point of the trial was to quickly return genetic results to a randomized group to see how patient outcomes would be affected.

The intervention group reduced their blood pressure and adopted more healthy behaviors. The high-risk patients dropped their systolic blood pressure by 3.6%; the controls dropped by 1.3%.

These results may support an approach of broad implementation of genetic medicine in primary care for certain use cases, concluded Girish N. Nadkarni, MD, MPH, Irene and Dr. Arthur M. Fishberg professor of Medicine, Icahn School of Medicine at Mount Sinai, et al., in the study.6

As to the question of just how common point of care trial research actually is, everyone interviewed had the same answerit isnt.

There is a lot of activity in this space. But it is fragmented, as is our healthcare system, says Platt. Her specialty is studying trust in the US healthcare system. Developing measures of trust to monitor how trial enrollees are faring is in the works, she she adds. It is a huge issue because of digital care in the home. What happens to the data if third parties are involved, or if a startup company that was monitoring patient progress dissolves? How does your data live with this? asks Platt.

She and her staff are starting research in artificial intelligence and how patients trust the technology in their healthcare systems. That is a key research questionits a new form of technology that has little oversight, from institutions and government. We need to understand what the public feels like when they have a stake in the field.

In May, the Duke University Margolis Center for Health Policy published a white paper on point of care-incorporated trials.8 It defined one aspect of the point-of-care scenario as: Using an EHR for enrollment, data collection, and randomization; running the trial where patient care occurs; and combining research and clinical care delivery workflows. The focus is on the trial participants, says Hendricks-Sturrup, a co-author. We want to achieve better screening, consent, randomization, and data collection, then incorporating those finds into routine care.

The difference between other trial designs and those that use point of care, says Hendricks-Sturrup, is that point of care is designed to know if the therapy is efficacious across all populations.

Margolis is working to resolve issues that could impede point-of-care progress, such as who runs the trial, who should pay for it, and how can data be collected and handled in an easy fashion across different systems? A major point is not adding burden to providers. We are working to tackle policy, says Trevan Locke, PhD, assistant research director for Margolis.

As for the blip, researchers for the colon cancer screening trial learned that buy-in from staff involved in the trial is essential. Staff at the various federally qualified health clinics didnt all do as the researchers asked, like installing a piece of software into their EHRs to find and track possible participants. Researchers stated: For most of the participating health centers, [this trial] represented the first time EHR tools were used to deliver cancer screening services outside the clinic. Implementation might have increasedwith experience.1

Alexander Charney, MD, PhD, associate professor, departments of psychiatry and genetics and genomic sciences, and co-director of the Mount Sinai Million Health Discoveries Program, says that as it acquires patient samples, it is gaining approvals for future trials. No studies are established yet, he says.

But lets fast-forward five years, Charney continues. A sponsor wants to run a trial comparing therapy X to therapy Y, when half of the patients have a certain genetic variant. If a researcher wants to do that trial, five years from now, patients will already have consented, he adds. We have laid the groundwork.

All 17 hospitals and clinics in the Mount Sinai Health System will be recruiting for this project, which is being underwritten by Regeneron. The volume of patients and unification of Mount Sinais operations make the enrollment goal possible, says Charney. His fellow co-director, Nadkarni, says enrollment is going slowly for a purpose.

We want to make sure systems are good to go, he tells Pharm Exec, and that safeguards are working, like ensuring patients are not duplicated in the system. The platform, he notes, meets all NIH and Department of Defense security standards.

Partnering with Regeneron, says Charney, was key to getting the project off the ground. There is no other way to sequence the genome of one million people, he adds. Regeneron, notes Nadkarni, will sequence the DNA samples, and then return the patient data.

At Northwell, Brennan said that as each trial request comes in, the team is looking at whether an embedded study can work. Of the 2,000 trials in motion, 5% to 8% are designed as a hybrid approach. Despite all the talk about embedded, i.e., point of care, few are being run that way.

But, she adds, We dont want to go back to the former ways and traditional methods of running a trial. When we saw how to pivot in COVID, we were able to [be flexible].

Christine Bahls is a freelance writer for medical, clinical trials, and pharma information.

Excerpt from:
'Record' Gains in Bringing Research Closer to the Patient - Applied Clinical Trials Online

EMERYVILLE, Calif.--(BUSINESS WIRE)--Metagenomi, a gene editing company with a versatile portfolio of next-generation CRISPR gene editing tools, today announced its participation in the following investor and industry conferences:

Citis 17th Annual BioPharma ConferenceCompany Panel titled Private Co-Panel: Genetic Medicine on September 7, 4:20 - 5:05 p.m. EDT11 meetings with institutional investorsParticipants: Brian C. Thomas, Ph.D., CEO and founder, and Simon Harnest, CIO, SVP Strategy

Wells Fargo Healthcare ConferenceCorporate presentation with Q&A on September 9, 10:25 - 10:55 a.m. EDT11 meetings with institutional investorsParticipants: Brian C. Thomas, Ph.D., CEO and founder, and Simon Harnest, CIO, SVP Strategy

Bairds 2022 Global Healthcare ConferenceCorporate presentation with Q&A on September 13, 9:40 - 10:10 a.m. EDTParticipant: Simon Harnest, CIO, SVP Strategy

GENedges GEN The State of Biotech Virtual SummitPre-recorded presentation, September 21-22Participant: Brian C. Thomas, Ph.D., CEO and founder

Jefferies Cell and Genetic Medicine SummitCorporate presentation with Q&A on September 3011 meetings with institutional investorsParticipant: Simon Harnest, CIO, SVP Strategy

About Metagenomi

Metagenomi is a gene editing company committed to developing potentially curative therapeutics by leveraging a proprietary toolbox of next-generation gene editing systems to accurately edit DNA where current technologies cannot. Our metagenomics-powered discovery platform and analytical expertise reveal novel cellular machinery sourced from otherwise unknown organisms. We adapt and forge these naturally evolved systems into powerful gene editing systems that are ultra-small, extremely efficient, highly specific and have a decreased risk of immune response. These systems fuel our pipeline of novel medicines and can be leveraged by partners. Our goal is to revolutionize gene editing for the benefit of patients around the world. For more information, please visit https://metagenomi.co/.

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Metagenomi Announces Participation in September Investor and Industry Conferences - Business Wire