Category Archives: Gene Medicine

COLUMBUS, Ohio A $14.6 million award from The National Institute of Neurological Disorders and Stroke will accelerate research led by The Ohio State University Wexner Medical Center and College of Medicine to further evaluate the safety and effectiveness of gene therapy to treat a rare genetic disorder called AADC deficiency, which causes severe physical and developmental disabilities in children.

This research will build on previous work at Ohio State and the University of California San Francisco using targeted delivery of gene therapy to the midbrain to treat a deadly neurodevelopmental disorder in children with aromatic L-amino acid decarboxylase (AADC) deficiency that is characterized by deficient synthesis of dopamine and serotonin.

This major federal award truly defines science with impact, said Dr. Carol R. Bradford, dean of the Ohio State College of Medicine. The exploratory clinical trial will pave the way to provide this disease-modifying gene therapy for AADC deficiency and future gene therapies for other neurological disorders.

Only about 135 children worldwide are known to have AADC deficiency. These children are missing the enzyme that produces dopamine in the central nervous system, which fuels pathways in the brain responsible for motor function and emotions.

Without this enzyme, children lack muscle control, and are usually unable to speak, feed themselves or even hold up their head. They also suffer from seizure-like episodes called oculogyric crises that can last for hours, said principal investigator Dr. Krystof Bankiewicz, professor of neurological surgery at Ohio State College of Medicine who leads the Bankiewicz Lab. Delivery of a functional copy of the AADC gene would significantly reduce suffering in afflicted patients and pave the way for registration of other gene therapies for neurological disease.

Eight children with AADC deficiency have been treated in the initial NIH- funded trial in the United States and an additional 15 children under an ethics committee-approved compassionate use program in Poland, Bankiewicz said.

In our earlier study, oculogyric crises stopped a few weeks after the surgery and patients sleep, mood and irritability improved. Most study participants gained head control and muscular tone, developed purposeful movements and some were able to sit up and start to walk without support, regardless of their age, said Bankiewicz, who is also a researcher with Ohio States Neurological Institute.

This new research will be a multi-center study with patients to be treated at Ohio State University and at the University of California San Francisco.

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Media Contact: Eileen Scahill, Wexner Medical Center Media Relations, Eileen.Scahill@osumc.edu

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$14.6 million NIH award will accelerate gene therapy research for rare disorder - Wexner Medical Center - The Ohio State University

DUBLIN--(BUSINESS WIRE)--The "United States Regenerative Medicine Market, Forecast & Opportunities, 2026" report has been added to ResearchAndMarkets.com's offering.

United States regenerative medicine market is expected to witness robust growth until 2026.

The United States regenerative medicine market is driven by the growing popularity of stem cell-based therapies. Additionally, the use of regenerative medicines for treating chronic diseases, acute insults and maladies is further propelling the market in the country.

The United States regenerative medicine market is segmented based on type, material, application, company and region. Based on type, the market can be categorized into cell-based immunotherapy & cell therapy products, gene therapy products, tissue-engineered products and others.

The cell-based immunotherapy & cell therapy products segment is expected to dominate the market during forecast years on account of the growing demand for cell-based immunotherapies and establishment of cures act by FDA to streamline the regenerative medicine market. The segment has the most promising future on account of its capability to restore the lost function of tissues and organs.

Based on application, the market can be fragmented into musculoskeletal disorders, wound care, oncology, ocular disorders, diabetes, dermatology and others. The dermatology application segment is expected to hold a significant market share during the forecast years. This can be attributed to the presence of easy grafting techniques for dermatological wounds and diseases.

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in United States regenerative medicine market.

Major players operating in the United States regenerative medicine market include

Report Scope:

Years considered for this report:

United States Regenerative Medicine Market, By Type:

United States Regenerative Medicine Market, By Material:

United States Regenerative Medicine Market, By Application:

United States Regenerative Medicine Market, By Region:

For more information about this report visit https://www.researchandmarkets.com/r/pgfot8

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United States Regenerative Medicine Markets to 2026: Focus on Cell Therapies, Gene Therapies, Progenitor & Stem Cell Therapies, Tissue Engineered...

October 1, 2021

Geulah Livshits, Ph.D., Senior Research Analyst, Chardan

Geulah Livshits, Ph.D.,is a Senior Research Analyst at Chardan covering biotech companies with a focus on gene editing and oncology.

Dr. Livshits joined Chardan in the spring of 2018, after a career as an academic scientist. Prior to joining Chardan, Dr. Livshits was a Postdoctoral Research Fellow in the laboratory of Dr. Scott Lowe at Memorial Sloan Kettering Cancer Center, where she developed CRISPR and RNAi approaches to study pancreatic cancer in vivo and in organoid models. Dr. Livshits conducted her thesis research in the laboratory of Dr. Elaine Fuchs at The Rockefeller University, where she studied mechanisms of skin development and regeneration.

Her doctoral and postdoctoral work has been published in peer-reviewed academic journals includingNature,Nature Medicine,Nature Biotechnology,eLife,PNAS, andHuman Gene Therapy. Dr. Livshits received her B.S. from Brandeis University, her Ph.D. from The Rockefeller University, and was a Postdoctoral Research Fellow at Memorial Sloan Kettering Cancer Center.

In this 2,929 word interview, exclusively in the Wall Street Transcript, Dr. Livshits describes the current highlights for the sector and recommends her top stock prospects for investors.

Its been exciting to see that start to play out over the past several years with Novartis(NYSE:NVS) acquisition of AveXis back in 2018, and Zolgensmas subsequent rollout in spinal muscular atrophy, which enabled kids to retain mobility. And more recently the authorization ofModernas(NASDAQ:MRNA) COVID-19 vaccine and the similar vaccine fromPfizer(NYSE:PFE) andBioNTech(NASDAQ:BNTX) have now been deployed to millions of people and are saving lives as we speak.

And were now starting to see clinical signals with gene editing as well. First, a few years ago for engineered cell medicines from companies likeAllogene(NASDAQ:ALLO),Cellectis(NASDAQ:CLLS), andCRISPR Therapeutics(NASDAQ:CRSP), and more recently, withIntellia Therapeutics(NASDAQ:NTLA) reporting initial data for CRISPR editing in the body. So its an exciting time for innovation in biotech overall and genetic medicines in particular. Im happy to be part of that.

The Chardan analyst Geulah Livshits opines that the pace of clinical trials has picked up and has created significant investment opportunities.

Within the areas of genetic medicines that we focus on, from a big picture standpoint, the past year has been a big year for CRISPR gene editing; its discovery was awarded the Nobel Prize last October. And then this summer, we saw the first human data where the CRISPR enzyme was delivered inside the body. Again, the program was from Intellia Therapeutics, and that was very promising.

Initial biomarker results suggested that the drug was doing what they would expect it to be doing based on what was shown in animal studies. And weve also seen an increasing durability of effects in a cell therapy program fromCRISPR TherapeuticsandVertex(NASDAQ:VRTX) for sickle cell disease.

Its important to keep in mind that this field is still in its early stages, but were seeing signals that for example, withIntelliasdata, gene editing works in humans at levels that would correspond to clinically meaningful results.

More generally, an important point is that were seeing good translation from preclinical, either animal or cell culture models, which provides some de-risking to the technologies that are involved. And that creates broader tailwinds for the space and increased enthusiasm in gene editing that we have seen.

Its notable that withIntelliasprogram, the editing uses a technology similar to the mRNA vaccines from the COVID space. Its an example of using two different innovative technologies, both of which had a big year. So we expect to see more of such combinations of innovative technologies going forward.

Gene editing can also be combined with other modes of delivery, including AAV viral vectors. And those have been the predominant technology of choice to deliver gene therapies inside the body.

EditasMedicine (NASDAQ:EDIT) is using an AAV approach to deliver CRISPR enzyme to treat inherited retinal disorder and will be reporting initial human data at the end of this month, which also will be an important catalyst in the space. AndLogicBio Therapeutics (NASDAQ:LOGC) is advancing nuclease-free genome editing therapy for a pediatric metabolic disease, and also plans to report initial data at the end of the year.

Chardan analyst Dr. Geulah Livshits is also a big promoter of gene editing companies:

In terms of upcoming important data readouts, as I mentioned, EditasandLogicBioare gene editing companies with near-term catalysts that could drive performance.EDITwill be reporting initial human in vivo editing data at the end of this month. This will be the companys first clinical data readout and the first in vivo editing readout with AAV-delivered CRISPR enzyme in humans.

The interesting thing about this is more that its a proof of concept of the technology platform, rather than necessarily the importance of the market size of the indication itself. Its a rare disease, but we sawIntelliaperform on the back of its initial data readout; we sawCRISPR Therapeuticsperform on the back of its initial data readout. And well have to see what the data look like, but thats an important catalyst for the space as well.

LogicBiois also a gene editing program, but it doesnt use CRISPR technology; its a nuclease-free in vivo editing platform. And theyre currently in the clinic in pediatric patients with methylmalonic acidemia, a metabolic genetic disorder. And valuation there has been lagging also. So we think that theres potential for the stock to bounce back on signals of activity. For example, they have circulating biomarkers that could indicate the presence of editing, and that would again serve as some validation of the platform.

So basically, in the gene editing space, weve seen considerable inflection and value on clinical proof of concept for a technology. And as a new emerging technology, thats something thats been very important. And each of these companies has been advancing slightly different variants of gene editing technology, which is why each time weve been seeing performance on the back of encouraging data.

Chardan is a big promoter of Regenxbio (NASDAQ:RGNX), and Geulah Livshits points out this this stock has an important announcement coming today:

As I mentioned, a number of gene therapy names have lagged behind in performance, and could be at favorable entry points ahead of data. For example, another gene therapy program that is also coming soon at the end of the month is data for Regenxbio (NASDAQ:RGNX).

This company has a broad pipeline of programs that uses a variety of AAV vectors. The lead, the most mature program, is in pivotal studies for wet age-related macular degeneration and diabetic retinopathy. And the company has generated encouraging data using a slightly more invasive surgical approach called subretinal delivery, but theyre also advancing a less invasive in-office approach called suprachoroidal delivery.

So this mode of delivery is important in terms of market penetration. They will start reporting data from patients treated with this less invasive delivery on October 1st.

Get the complete 2,929 word interview, exclusively in the Wall Street Transcript with Dr. Livshits for all of the professional Chardan analyst gene therapy stock recommendations.

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Chardan Analyst: Gene Therapy Stocks Start their Long Ride to the Upside - The Wall Street Transcript

A catheter for chemotherapy on a womans arm. Photocourtesy National Cancer Institute via Wikimedia Commons

Researchers at UC San Diego and UC San Francisco have mapped out how hundreds of mutations involved in two types of cancer affect the activity of discrete groups of proteins that are the ultimate actors behind the disease, reports published Friday revealed.

The work points the way to identifying new precision treatments that may skirt side effects common with much current chemotherapy.

The effort, dubbed Cancer Cell Mapping Initiative, is led by Trey Ideker, professor at UCSD School of Medicine and Moores Cancer Center, and Nevan Krogan, director of the Quantitative Biosciences Institute at UCSF, who are co-senior authors on a set of three related studies that describe the map.

The papers appear in Fridays online issue of Science.

The bottom line is that were elevating the conversation about cancer from individual genes to whole protein complexes, Ideker said. For years, different groups have been discovering more and more mutations that are involved in cancers, but in so many different genes that scientists cant make sense of it all.

Now were able to explain these mutations at the next level by looking at how the different gene mutations in different patients actually have the same downstream effects on the same protein machines, he said. This is the first map of cancer from the protein complex lens.

DNA contains the instructions for building proteins, which then interact with other proteins, almost always in large groups called complexes. These protein complexes, in turn, make up most of the machinery of cells, dictating basic cell functions like feeding, growth and whether the cell develops into cancer. If the underlying DNA has a mutation, the resulting protein machines often will as well.

In cancers, a subset of genes is commonly mutated, Krogan said, and each of these genes can be mutated in hundreds of different ways. In addition, the function of a particular protein may be different in different types of cells, so a mutation in a breast cancer cell might have different effects on protein complexes than that same mutation in a cell in the throat.

CCMIs goal was to map the constellation of protein complexes formed by approximately 60 proteins commonly involved in either breast cancer or cancers of the head and neck, and to see what each looked like in healthy cells. Alongside that effort, they created maps of how protein complexes are affected by hundreds of different gene mutations in two cancerous cell lines.

Currently, physicians look for a small number of mutated genes as biomarkers to decide whether or not to prescribe a particular drug. For instance, patients with breast cancer who have an alteration in their HER2 gene are given the medication Herceptin because thats what has been determined to work best for them.

The problem is that there are still only a few genes that work in this way, providing reliable biomarkers that are clearly actionable with an FDA- approved drug, Ideker said. Our studies provide a new definition of biomarkers based not on single genes or proteins but on large, multi-protein complexes.

Because each protein complex incorporates mutations from a larger collection of genes, it is typically relevant to more patients, Ideker said. For example, XRCC5 is a DNA-repair gene altered in just 2% of colon cancers, which limits the usefulness of this biomarker. Now, however, researchers can look at CCMIs new map of cancer protein complexes and see that XRCC5 is part of a 15-protein assembly altered in 14% of patients, and that these patients are typically very resistant to standard therapies.

Indeed, by targeting simultaneously multiple components of these oncogenic networks, our collaborative studies will pave the way for the development of more effective combination cancer therapies, while preventing treatment resistance, said co-author J. Silvio Gutkind, chair of the Department of Pharmacology at UCSD School of Medicine and associate director of basic science and co-director of the Head and Neck Cancer Center at Moores Cancer Center. These studies in breast and oral cancer can now be expanded to most human malignancies.

The most powerful aspect of these extensive protein interaction maps is that they can shed the same light on many other conditions, Krogan said. For example, the team is also at work on similar studies of protein interactions in psychiatric and neurodegenerative disorders and infectious diseases.

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UC San Diego Cancer Cell Mapping Research May Improve Chemotherapy - Times of San Diego

Dr. Lee joins CATO SMS from AstraZeneca where she was medical director responsible for medical monitoring and assessment of safety-related issues throughout the life cycle of immuno-oncology products.Highlights of Dr. Lee's previous experience include:

"Dr. Lee brings to our team a unique blend of extensive clinical and regulatory experience," said Mark A. Goldberg, M.D., executive chairman, CATO SMS. "Dr. Lee's background working as a senior regulator and as a physician caring for patients will provide invaluable perspective and guidance to our small and emerging biopharmaceutical clients who are focused on developing cell and gene therapies for the treatment of cancer."

Dr. Lee earned her doctorate in neuroscience from Johns Hopkins University School of Medicine in Baltimore. She earned her doctor of medicine degree from the National Yang-Ming University School of Medicine in Taipei, Taiwan.

About CATO SMS CATO SMS is a global provider of clinical research solutions, including strategic consulting and full-service clinical trial operations. With more than 30 years of experience focusing on the needs of small and emerging biopharmaceutical companies, CATO SMS effectively designs and executes studies from strategy to approval in complex indications and modalities across a variety of therapeutic areas with a proven center of excellence in oncology. CATO SMS' regulatory, therapeutic and operational expertise enables the company to meet goals and exceed expectations. Visit CATO-SMS.comfor more information.

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CATO SMS Appoints Vice President of Regulatory Strategy, Cell and Gene Therapy - PRNewswire

Some 25 million years ago, a small, chance mutation dramatically altered the course of primate history. And it's a major reason you don't have a long muscular appendage protruding from your lower back.

(Alas, a small injury-prone tailbone remains.)

In fascinating new research recently published online, researchers identified an ancient change to a primate gene that ultimately led to the loss of tails in apes like gorillas, chimpanzees, and humans. Most monkeys, with their impressive serpentine tails, don't have this mutation.

"There's compelling evidence that a single change enabled this," said Itai Yanai, the director of the Institute for Computational Medicine at New York University and an author of the research.

The discovery, of course, also helps appease a popular childhood question (and, perhaps, a continuing quandary for many inquisitive adults). "It's a question that's been in my head since I was a little kid: Why don't I have a tail?" said Bo Xia, the Ph.D. candidateat NYU Grossman School of Medicine who actually made the discovery. (Xia injured his tailbone a couple of years ago, which renewed his interest in his long-lost tail.)

The mutation didn't happen in a conspicuous place in the primate genome. "This was a small thing that was unique to tailless apes," explained Hopi Hoekstra, a professor of zoology at Harvard University who studies genetic changes and adaptations in vertebrates. Hoekstra had no role in the research

By comparing the genomes of tailed primates versus those without tails, Xia spotted that humans and apes (but not monkeys) had a unique stretch of DNA inserted into the TBXT gene, which carries genetic instructions for tail formation. "It's the beautiful simplicity of comparing genomes of primates with tails and tailless primates" said Hoekstra. "They found a mutation that knocks out part of this gene that produced this trait of interest."

A type of gene called a "jumping gene" that can jump around and insert itself randomly into other places in the genome inserted itself, forming this mutation, the authors explained. Ultimately, this insertion resulted in a new pattern of expression of the TBXT gene that coded for no tail, or a smaller tail.

Orangutans, like humans, don't have tails.Credit: CHONG JIUN YIH / GETTY IMAGES

To bolster their findings, Xia and his team experimented on laboratory mice (which share many, but not nearly all, genes in common with humans). They genetically engineered mice so the animals would have the same TBXT gene expression pattern as people. This resulted in many mice with no tails, short tails, or kinked tails. In contrast, mice that weren't genetically altered had normal tails.

In sum, this adds up to strong evidence that this single gene mutation played a significant role in the loss of tails in primates. (Though other genes likely play somewhat of a role, too, noted Xia, as the mice had differing tail lengths). "The authors provide a compelling list of evidence that they found the mechanism by which primates lost tails," said Charles Fenster, a biologist at South Dakota State University who researches evolution. Fenster had no involvement with the research.

And once this mutation started circulating in a primate population, evolution did its work: Millions of years later, our tails are almost completely gone, save the tailbone.

This new research confidently answers the question of how we lost our tails. It was likely a small, but potent, genetic mutation. But a question that's still not fully answered is why the resulting physical change (loss of tails) took hold. In other words, why in apes and humans was it evolutionarily advantageous to lose our tails?

"This is always a hard question," said Hoekstra. It inherently involves some speculation, which goes outside the main scope of this research. But there are some intriguing ideas.

Fundamentally, losing a tail must have been a good thing for many primate populations. Advantageous mutations spread. "Those mutations that are benign will spread. And those deleterious mutations will be purged from the population," explained Fenster.

In the case of shortened or tailless primates, the benefits of losing the tale ultimately outweighed the costs. "It's always a matter of cost-benefit," noted Hoekstra. Yet, some harmful costs though vastly outweighed by benefits may still linger in people today. For example, some of the genetically mutated mice in the new research had neural tube defects, which are defects of the spinal cord. Today, one out of 1,000 newborn babies has a similar defect. "Maybe we still have this remnant of a problem," said NYU's Yanai. "In other words, by losing tails we paid the cost of a defect in one out of 1,000 births."

But what are the big benefits of losing a tail? Here are some ideas.

Although the first evidence of bipedal primates is from some 4.4 million years ago, earlier primates may have started spending more time out of the trees and on the ground perhaps for better foraging opportunities. A population of primates who had this tail mutation, resulting in a better anatomical ability to stand more upright and forage on the surface, may have been more successful than their tailed counterparts.

As the tailless primates succeeded, the genetic mutation would have become more common. In this case, the tail mutation could have acted as a "predaptation" in primates that were spending more time on the ground, said Jef Boeke, also a study coauthor and the director of the Institute for Systems Genetics at NYU Langone Medical Center. "It preadapts you to do bigger and better things," Boeke explained. "This enables us to walk more readily on two feet."

For many populations of primates, losing a tail may have simply been a better life option, noted Hoekstra. A tail can be costly to produce (more calories needed to support a major appendage); a tail can be injured; or "it's another appendage for a predator to grab you by," she said.

Ultimately, losing a tail turned out to be excellent for our hugely successful, though imperfect species. Our tailless bipedalism allowed us to travel long distances and become experts in foraging and hunting. We could feed our bigger, energy-demanding brains. We developed intricate language. We would one day address scourges and plagues with vaccines and antibiotics; venture into outer space; create wondrous music.

Still today, we continue to discover, and even better reveal the secrets of how we became such a smart, capable species. In an age of computer-dominated research, the genetic researcher Xia rather than specially programmed, advanced software identified a momentous genetic mutation through human ability and curiosity.

"He just looked at the genome," said Yanai. "That's a testament to the enduring power of human-generated discoveries."

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How did humans lose their tails? Scientists discover what happened. - Mashable

Genetic Technologies (GENE) today announced a collaboration with the Institute of Public Health in St Louis USA to expand the predictive capabilities of the companys GeneType for Breast Cancer product for women of African descent. GENE is a genomics and AI-driven preventative health business.

In a press release, the company says this is, In line with the strategic objective to invest to expand testing to provide inclusive polygenic risk scores for multi-ethnic populations.

Its known that significant unmet need exists for polygenic risk testing for ethnically diverse populations. Risks of mortality from breast cancer is estimated to be 40% higher in African American women than Caucasian women, but most polygenic scores are calculated based on populations that are mainly Northern European. There are more than 47 million individuals of African descent in the US. The lifetime probability of developing non-hereditary breast cancer is 11.5% (1 in 9) for this population.

The self-funded collaborative study will support expanded risk testing for populations of African descent. It is designed to enable identification of high-risk individuals who could benefit from advanced testing.

The study will be in collaboration with Professor Graham Colditz, a world-renowned epidemiologist. From 1999 to 2006 Colditz was Principal Investigator of the ongoing Nurses Health Study located at the Brigham and Womens Hospital. He now specializes in risk modeling for breast cancer in women of African American descent.

Polygenic risk models are required to be validated for use with multiple ethnicities and therefore GENE will be validating samples that have both genotype data and the relevant clinical information to cover this expanded population.

The collaboration is anticipated to require around 9 months of research and processing at GENEs Melbourne Laboratory.

Commenting on the study, CEO Simon Morriss said: Expanding our capabilities to include those of African descent is a critical element of our long-term strategy. To fully address the growing burden of common complex diseases on our healthcare systems we need to be able to provide predictive risk tests for all individuals to empower them with the information to proactively manage their health and understand their risk. This is the first step in our response to address the unmet demand for tests that have been validated on multi population datasets. We will continue to assess our product portfolio to ensure we are expanding our addressable population and providing inclusive polygenic risk scores for multi-ethnic populations.

Professor Colditz is a world-renowned figure in breast cancer epidemiology and risk modeling, and notable genotype datasets on the African American population are held by the Institute for Public Health. Given the USs multi-ethnic landscape, clinical applications will be affected by how the risk model performs in these populations.

Richard Allman, GTGs Chief Scientific Officer, will be heading the initiative and said, Our aim is to develop the best practical risk assessment tool for breast cancer. We hypothesise that a risk prediction model that is easy to answer while containing important risk-predicting information such as a polygenic risk score, a mammographic density risk score, and an absolute-risk, based on family history and selected clinical risk factors will provide better risk discrimination than any of the currently available individual risk models that do not incorporate all of these risk factors.

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Collaboration Aims to Improve GeneType Breast Cancer Test's Utility in African Americans - Clinical OMICs News

This year, the public was introduced to messenger ribonucleic acid, or mRNA, when it became a hero in the worldwide race to develop COVID-19 vaccines. Scientists lab-engineered mRNA to instruct human cells how to recognize, and then destroy, the spike protein that is the entryway for the virus.

Highly effective and precise, the approach offered a glimpse into the power of mRNA technology. Messenger RNA could one day help the human body tackle diseases like cancer with the same effectiveness.

Yanjun Qi, an associate professor of computer science in the University of Virginias School of Engineering and Applied Science, could hold the key to making that happen.

DNA, a humans genetic code, holds the instructions that direct cells in performing all biological functions. Messenger RNA carries those instructions to the cells. Scientists hope to harness the bodys DNA-to-mRNA-to-cell action pathway a process called gene expression for precision medicine.

Before that potential can become a reality, however, researchers must discover what instructions the genes in our DNA are sending through messenger RNA.

Qi is on the leading edge of this discovery. She is using powerful deep-learning models to analyze biomedical data to uncover how genes and messenger RNA interact.

The relationship between the DNAs instructions; their messengers, the mRNA; and how they direct cell activity is not really clear for the majority of disease, Qi said. What we are trying to understand is the DNA-to-the-messenger-RNA step, because it informs us how the genetic code is connected to the expression of disease.

Uncovering those connections could lead to a future with highly targeted therapies. Just as mRNA can instruct a cell to block a virus from invading the body, the DNAs messengers could one day arm cells with the relevant instructions to mount a front-line defense against disease, well before it can even take hold.

Qi stresses that the work is in the earliest stage of discovery.

Huge amounts of data about genetic code are being compiled, she said. The question is how to make sense out of that data for useful purposes. We are creating artificial intelligence tools to find things that are entire unknowns right now. We are talking about long time horizons, and we believe we are going to get there.

The far-reaching finish line reflects the sheer size of the task. A humans genetic code includes 6 billion data points that are contributing to gene expressions, which are then connected to the more than 1013(10 million million) cells of the human body.

There are biological pathways from genes to the mRNAs to proteins that perform millions of functions, Qi said. Decoding such a massive amount of detail into specific pathways for disease is a gargantuan task.

That is where the powerful artificial intelligence-based computer models come into play. They can detect patterns in the data that make it easier to find those connections.

A model can generalize inferences from what it has seen before and apply that to unknowns and more quickly recognize something new, Qi said. Each new finding helps narrow focus of the ongoing search because the computer is learning from the history of the data to recognize basic rules.

When new rules are uncovered, researchers can extrapolate them and go outside the existing knowledge.

In her role as adjunct faculty member in both the UVA School of Medicines Center for Public Health Genomics and the UVA School of Data Science, Qi collaborates with biological researchers in different areas of medicine to model data for a better understanding of genetic code and its relationship to disease.

A lifelong interest in holistic and natural approaches to science, combined with a keen desire to create the mathematical tools to solve complex problems, put Qi on the path that overlaps AI with biology and medicine.

Computer science is a skill and a tool because the algorithms we create are agnostic and can tackle any task, she said. A good tool can profoundly solve the task.

Qis longest-running collaboration since joining UVA Engineering in 2013 is with Center for Public Health Genomics resident member Clint L. Miller, an assistant professor in the School of Medicines Department of Public Health Sciences. The two have created a tool that can be used on specific data to study genetic factors related to cardiovascular disease risk.

Miller initially reached out to Qi for her expertise when a student in his lab expressed interest in learning more about artificial intelligence methods.

After the first meeting, we realized that we had complementary research programs and similar interests, so we naturally started collaborating, he said.

Miller points out that the fields of genomic medicine and genetic-informed drug discovery are rapidly evolving due to the plummeting cost of DNA sequencing combined with the rise of more scalable computational analysis tools.

We are now at a key inflection point where the integration of large-scale human genetic datasets with AI-based predictive algorithms can be harnessed to develop the next generation of precision medicines, he said. The goal of our work in this space is to accelerate the discovery and translation of genetic-based medicines.

Miller, who holds secondary appointments in biomedical engineering as well as biochemistry and molecular genetics, believes that the key to innovation lies in bridging knowledge gaps across disciplines. By combining his expertise in the biology of disease with Qis knowledge of machine learning, they hope to answer the most pressing biomedical questions in the field.

In every collaboration, Qi equally weighs the power of listening, learning and forming understandings with the power of the AI models themselves.

I am always trying to build good tools, she said. In order to create good tools, you have to understand your user. I seek to understand the problems that the biologists I collaborate with are trying to solve specifically what data are they using.

This year, Qi was recognized for her contributions to research that advances medicine when she was recruited as a National Scholar of Data and Technology by the National Institutes of Health. She will be contributing ideas and tools that will leverage large genomics datasets to provide better understanding of Alzheimers disease in the quest for effective treatments.

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mRNA Could Fight Diseases Such as Alzheimer's and Cancer, With Help of UVA Scientist - University of Virginia

MCLEAN, Va., Oct. 1, 2021 /PRNewswire-PRWeb/ --The Multiple System Atrophy ("MSA") Coalition announces a ground-breaking million-dollar multi-year collaborative project focused on exploring the genetics of up to 1,200 people with either a diagnosis of probable MSA, in the case of living patients, or postmortem pathological confirmation of multiple system atrophy, aimed at locating commonalities in their genes that might contribute to the development of multiple system atrophy. The aim of this collaborative study is to sequence and organize the genomes of existing genetic samples as well as to organize previously sequenced whole-genome data into a single database that is accessible to researchers worldwide. While many researchers have looked at the genetics of MSA, this will be the first time such a large number of genomes from ethnically diverse populations have been sequenced and organized in such a way as to facilitate thorough analysis and collaborative enterprise.

"MSA is not typically passed from parent to child, except in extremely rare cases. However, there are still important clues about the underlying cause of MSA that can be found by examining the genetic code of a large population of MSA patients and looking for commonalities. Because MSA is a such a rare disease, there is a need for multiple researchers to work together and pool their data. Until now there has not been a concerted effort among genetic labs to combine these rare genetic samples from MSA patients with diverse backgrounds into a large, shared database," said Pam Bower, chair of the MSA Coalition's research committee. "The MSA Coalition is proud to be the driver of this ground-breaking study."

University of Florida will perform genetic sequencing under the direction of Matt Farrer, PhD, while storage, analysis and visualization of data will occur at Harvard Medical School in the Clinical Genome Analysis Platform ("CGAP") under the direction of Dana Vuzman, PhD. Additional genomic information will be provided by University College of London, Queen Square Institute of Neurology under the direction of Henry Houlden, MBBS, MRCP, PhD; by Translational Genomics Research Institute (TGen) under the direction of Matt Huentelman, PhD (Funded in part by the Rex Griswold Foundation, a grant from the NIH NINDS (R21-NS093222, PI: Huentelman), and through institutional support of TGen.); and by Seoul National University, under the direction of Beomseok Jeon, MD, PhD and Han-Joon Kim, MD, PhD. The Core G team also plans to coordinate their work with that being done at NIH under the direction of Sonja Scholz, MD, PhD. The group, collectively known as "Core G" (Genetics), will work closely with Vik Khurana, MD, PhD, board member and Scientific Liaison of the Board of Directors of the MSA Coalition and Chief of the Movement Disorders Division at Brigham and Women's Hospital and Harvard Medical School. Dr. Khurana will endeavor to integrate Core G team-member efforts more broadly into the MSA Collaborative Cores Initiative sponsored by the Coalition that will seed fund additional projects over time.

"I am thrilled that after years of planning and deliberation that Core G is funded and ready to go," said Khurana. "This group of terrific researchers, together with their expertise, bring precious patient samples from three continents to establish a foundation upon which other collaborations and initiatives will be built. We are under no illusion that the genetics of MSA will prove challenging, no less than a moonshot. At the same time, genetic insights promise to unlock powerful hypothesis-driven science that can find cures. And so, this moonshot is worth the effort and has been structured to be collaborative, open and sustainable in the long-term."

"We are incredibly proud of assembling this group of world-renowned researchers to collaborate on this project. It has taken almost three years to organize this project and obtain consents from all the institutions involved. Great care has been taken by all contributing institutions to safeguard the privacy of the patients and anonymize the genetic materials, so that patient privacy is protected," said Cynthia Roemer, MSA Coalition board chair. "We are also grateful to our many donors, who have made this project possible, and to the patients we have lost to MSA who generously left bequests to the MSA Coalition to further critical research like this. We quite literally could not do it without them!"

Dana Vuzman, PhD is an Instructor of Medicine at Harvard Medical School and the Director of Genomic Platform Development at DBMI. Dr. Vuzman oversees the implementation of the Clinical Genome Analysis Platform (CGAP) and the Single Cell RNA Platform in the Department. Prior to joining DBMI, she served as Chief Informatics Officer at One Brave Idea, Sr. Director of Biomedical Informatics at KEW, Inc., and Co-Director at Brigham Genomic Medicine. Dr. Vuzman earned her PhD in Computational Biology from the Weizmann Institute of Science in Israel and completed her postdoctoral training in Computational Genetics at Brigham and Women's Hospital and Harvard Medical School.

Matt Farrer, PhD is critically acclaimed for his work in the genetics and neuroscience of Parkinson's disease. His inspiration to apply genetic analysis to complex neurologic disorders came from early work as a care assistant of patients and families with neurologic and psychiatric disorders. Dr. Farrer earned his first degree in Biochemistry with a Doctoral degree in Molecular and Statistical Genetics from St. Mary's Hospital Medical School, UK. He completed a fellowship in Medical Genetics at the Kennedy-Galton Centre, UK and in Neurogenetics at Mayo Clinic. Dr. Farrer became an Assistant Professor of Molecular Neuroscience in 2000 where he opened his first laboratory to predict and prevent Parkinson's disease. Dr. Farrer became a tenured professor in 2006, a Mayo Consultant, and subsequently, a Distinguished Mayo Investigator. In 2010, Dr. Farrer was awarded a Canada Excellence Research Chair to build the Centre for Applied Neurogenetics and Neuroscience at the University of British Columbia, Vancouver, Canada where he became a Professor of Medical Genetics. The Province of British Columbia subsequently awarded him the Don Rix Chair in Precision Medicine, and his team had many notable accomplishments including several new genes and mouse models for Parkinson's disease. The team also implemented high-throughput sequencing in pediatric seizure disorders and neonatology in clinical service. The former was funded through the Medical Services Plan of British Columbia and was a first for Canada.

In 2019, Dr. Farrer accepted an endowed chair at the Norman Fixel Institute for Neurological Diseases (thanks to a generous endowment from the Lauren and Lee Fixel Family Foundation). Dr. Matt Farrer also directs the UF Clinical Genomics Program. As such he currently has appointments and affiliations in the UF College of Medicine's Neurology and Pathology Departments, Clinical and Translational Science Institute, the Evelyn F. and William L. McKnight Brain Institute, the Center for Translational Research in Neurodegenerative Disease, and the Center for Neurogenetic in addition to the Norman Fixel Institute for Neurological Diseases.

Henry Houlden, MBBS, MRCP, PhD: Dr. Houlden is a professor of neurology and neurogenetics in the Department of Neuromuscular Disease, University College, London, Queen Square Institute of Neurology, and undertakes research laboratory works on neurogenetics and movement disorders with a particular interest in rare diseases that are adult or childhood-onset, such as multiple system atrophy (MSA), spinocerebellar ataxia and other movement disorders, inherited neuromuscular conditions, and difficult to diagnose disorders, particularly in diverse and underrepresented populations. He assists with the integration of new gene discovery with exome and genome sequencing identifying disease genes such as CANVAS, NARS1, NKX-6.2, SCA11, SCA15, GRIA2, and GAD1, with functional experimental validation in human tissue and other model systems. Dr. Houlden has clinical expertise in inherited neurological disorders and movement disorders such as multiple system atrophy, ataxia, leukodystrophy, epilepsy and paroxysmal conditions, spastic paraplegia and neuromuscular conditions.

Matt Huentelman, PhD: Dr. Huentelman's research interests center around the investigation of the "-omics" (genomics, transcriptomics, and proteomics) of neurological traits and disease. His laboratory's overarching goal is to leverage findings in these disciplines to better understand, diagnose, and treat human diseases of the nervous system.

Dr. Huentelman joined TGen in July of 2004 after completing his doctoral work at the University of Florida's Department of Physiology and Functional Genomics at the McKnight Brain Institute where he investigated the application of gene therapy in the study and prevention of hypertension. His undergraduate degree is in Biochemistry from Ohio University's Department of Chemistry and Biochemistry at Clippinger Laboratories. Dr. Huentelman's career includes visiting researcher stints in Moscow, Russia at the MV Lomonosov Moscow State University "Biology Faculty" and in the United Kingdom within the University of Bristol's Department of Physiology.

Beomseok Jeon, MD, PhD: Professor Jeon is the medical director of the Movement Disorder Center, Seoul National University Hospital and is interested in genetics of Parkinsonism and medical and surgical treatment of advanced Parkinson's Disease.

Dr. Jeon earned his undergraduate, MD and PhD degrees from Seoul National University. His clinical interests include Parkinson's disease and other movement disorders including tremor, ataxia, dystonia, and chorea. His research focuses on the role of genetics in movement disorders, especially in the Korean population. He has established a DNA bank of thousands of Korean patients with movement disorders and normal controls. He is also involved in treatment of advanced Parkinson disease, and works with neurosurgical colleagues for various surgical treatment.

Han-Joon Kim, MD, PhD: Dr. Kim is a Professor in the Department of Neurology and the Movement Disorder Center at Seoul National University Hospital, Seoul, Korea. After graduation from the Medical College of Seoul National University in 1997, Dr. Kim took an internship and residency in neurology at Seoul National University Hospital (SNUH) where he became a Movement Disorder Specialist.

Clinically, Dr. Kim has experience with patients with various movement disorders including Parkinson's Disease (PD), Multiple System Atrophy (MSA), other atypical Parkinsonisms, and ataxias. Notably, Dr. Kim has set up a large registry of Korean MSA patients, which will serve as a basis for both observational and interventional studies in this rare disease.

Sonja W. Scholz, MD, PhD: Dr. Scholz is a Neurologist and Neurogeneticist specialized in movement and cognitive disorders. She received her medical degree from the Medical University Innsbruck, Austria. Following graduation, she was a post-doctoral fellow at the Laboratory of Neurogenetics at the NIH's National Institute on Aging (NIA) under the supervision of Drs. Andrew Singleton and John Hardy. She obtained a Ph.D. in Neurogenomics from the University College London, UK in 2010. She then moved to Baltimore to complete her neurology residency training at Johns Hopkins. In 2015, Dr. Scholz received the McFarland Transition to Independence Award for Neurologist-Scientists. She is a Lasker Clinical Research Tenure Track Investigator within the Neurogenetics Branch at the NIH's National Institute of Neurological Disorders and Stroke (NINDS). Her laboratory focuses on identifying genetic causes of neurodegenerative diseases, such as dementia with Lewy bodies, multiple system atrophy, and frontotemporal dementia.

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Moriah Meeks, MSA Coalition, +1 (312) 270-0171, [emailprotected]

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The Multiple System Atrophy Coalition Announces a Groundbreaking Project to Explore the Genetics of MSA - Johnson City Press (subscription)

NEW YORK, Sept. 29, 2021 /PRNewswire/ --The DeGregorio Family Foundationhas awarded$250,000 to Bryson Katona, MD, PhD, Assistant Professor of Medicine and Director at the Gastrointestinal Cancer Genetics Program at University of Pennsylvania Perelman School of Medicine. Dr. Katona is a physician-scientist who seeks to better define the gastric cancer risks associated with the CTNNA1 gene in order to aid both patients and medical professionals in their abilities to manage the cancer risks associated with the gene.

Hereditary diffuse gastric cancer syndrome (HDGC), the most common cause of familial diffuse gastric cancer, leads to substantially increased gastric cancer risk that often necessitates the prophylactic removal of the stomach for cancer prevention.The CDH1 gene was the first gene found to be associated with HDGC and remains the most common and best characterized gene associated with this condition.More recently, the CTNNA1 gene has also been shown to be associated with HDGC; however, given limitations in the amount of available data, the true gastric cancer risk for carriers of an abnormal CTNNA1 gene remain uncertain.

With support from the DeGregorio Family Foundation Grant Award, Dr. Katona's lab plans to conduct an international study to allow collection of cancer information from families who carry a CTNNA1 gene variant, which will allow him and his team to calculate the cancer risks associated with this gene. Secondly, they will utilize gastric organoids, which are novel three-dimensional models of gastric tissue that are derived directly from biopsies of the stomach, to study how different changes in the CTNNA1 gene may contribute to gastric cancer growth.

In 2020, gastric and esophageal cancers combined to kill over 1.3 million people worldwide making it the second-leading cause of cancer-related death. Patients continue to face poor prognoses following gastric and esophageal cancer diagnoses due to their chemo-resistant behavior and ability to metastasize.

The DeGregorio Family Foundation, founded in 2006 after a 10th member of the DeGregorio family died of stomach cancer, has raised more than $5 million to fund innovative research focused on curing gastric and esophageal cancers. Lynn DeGregorio, President and Founder, stated, "We are so thankful for the support we have received and honored to award grants to projects that have the capacity to change the paradigm for those impacted by these diseases."

Commenting on his award, Dr. Katona said, "I am absolutely thrilled to be selected as a recipient of the DeGregorio Family Foundation Grant Award.This award will be instrumental in advancing our understanding of the hereditary diffuse gastric cancer syndrome risk gene CTNNA1, which will help inform future clinical care as well as cancer risk reduction strategies for CTNNA1 carriers."

Media Contact: Sarah Fletcher 917-855-7994 [emailprotected]

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Grant Awarded to Better Define Gastric Cancer Risks of the Hereditary Diffuse Gastric Cancer Gene CTNNA1 - PRNewswire