Category Archives: Transhuman News

Cancer is, far and away, the most widely researched biological or biomedical topic, and for a good reason. In the United Kingdom, cancer will affect 1 out of every 2 people at some time in their lives.

However, a new analysis of the PubMed library of biomedical research literature finds that the search for connections between genes and cancer has created an overabundance of reported associations, making new research even more difficult.

At this point, almost all human genes have a connection with cancer in one way or another.

According to the article, which appears in Trends In Genetics, the PubMed library holds at least one paper on 17,371 human genes. Of these, 87.7% mention cancer in at least one publication.

Of the 4,186 genes that are the subjects of 100 or more PubMed articles, only three genes have no associations with cancer.

The author of the new paper, Dr. Joo Pedro de Magalhes of the University of Liverpool in the U.K., writes, An incredible 24.4% of all publications associated with genes in PubMed mention cancer.

Dr. de Magalhes suspects this wealth of associations has to do with how relatively easy it is to perform cancer research from a genetic perspective:

Compared with other common diseases, such as heart or neurodegenerative diseases, cancer is also seemingly more straightforward to study, given the wide availability of materials, such as cell lines.

In other words, the experimental methods necessary to study cancer seem to have lower technical limitations compared with many other disease scenarios.

The many connections cited in research imply that nearly all genes are involved in cancer, which is improbable, asserts Dr. de Magalhes.

Associations are not necessarily evidence of actual causal relationships, so much of this research may amount to unhelpful statistical noise that makes productive analysis more difficult.

The analysis cites several ways in which the glut of reported associations inhibit worthwhile research:

Dr. de Magalhes writes that researchers should be mindful of the bias toward seeking gene associations for cancer, considering it in their discussions with other researchers, and in appraising their work:

In genetics and genomics, literally everything is associated with cancer. If a gene has not been associated with cancer yet, it probably means it has not been studied enough and will most likely be associated with cancer in the future.

Says Dr. de Magalhes, In a scientific world where everything and every gene can be associated with cancer, the challenge is determining which are the key drivers of cancer and more promising therapeutic targets.

The rest is here:
Is every gene associated with cancer? - Medical News Today

When Misty Lovelace was a baby, her eyes were drawn to the light.

She could not focus on faces, only sources of light. Her grandmother Cynthia Lovelace, who would become her main caretaker, suspected vision problems.

By age three, Misty was diagnosed as legally blind. School systems struggled with how to handle her. She was intelligent and intuitive, but people would treat her as if she had a learning disability.

As she got older, Misty started carrying a lamp with her at school. She would put her lunch under it to see what she was about to eat. She learned Braille and used a cane to navigate. When she visited the doctor for checkups, her prognosis seemed to get worse.

"[The doctor] would take her little face and he'd put his hands on her face and say, 'Misty, I'm so sorry, there's nothing more we can do for you, honey. You're going to wake up in the dark one day,'" Lovelace recalled.

"It'd be like looking through a tunnel. And all of a sudden that tunnel goes out."

Misty has Leber congenital amaurosis, or LCA, a genetic disorder that often manifests at a young age, causing vision loss. In Misty's case, and for approximately 1,000 to 2,000 other people in the U.S., the disease is caused by mutations in a gene called RPE65.

Misty Lovelace, age 4

Courtesy of Misty Lovelace

What Misty didn't know as her vision got darker was that a scientist and doctor duo at the Children's Hospital of Philadelphia had already spent years working on a gene therapy for her disease.

The gene therapy, which would eventually become known as Luxturna, was not an overnight success. Decades of research and setbacks preceded the landmark U.S. approval of Luxturna four years ago, the first the Food and Drug Administration had ever granted to a gene therapy for an inherited disease. While Luxturna is not a cure for blindness, treatment has brought sustained improvements in sight, particularly in lower light, for several patients who spoke with BioPharma Dive. As a result, they've needed less help in educational and social environments, and have more independence.

Their experience with Luxturna is proof of gene therapy's potential as well as its limitations. As the first gene therapy of its kind, Luxturna also holds lessons for a field that's grown dramatically since its December 2017 approval.

Lovelace said she never stopped trying to find a way for Misty to regain her sight. The possibility gave her hope as she watched her granddaughter adjust to a life that, for her, was almost in total darkness.

A call from Jean Bennett was a lifeline.

Bennett and her husband, Albert Maguire, met at Harvard Medical School in the early 1980s. The two began researching gene therapy together, attempting to treat blindness in mice. Soon they were testing their approach on Briard dogs with the same defective RPE65 gene that causes LCA in humans.

By 2007, their gene therapy was ready to be tested in people a high-stakes proposition for a field that had largely been shut down nearly a decade before. After 18-year-old Jesse Gelsinger died during a 1999 gene therapy study, many questioned whether such research was safe. The success Bennett and Maguire had with Luxturna was a large part of gene therapy's journey back to the forefront of biomedical research, aided by improvements in how such treatments are designed and delivered.

Testing began at the Children's Hospital of Philadelphia, where Misty was recruited as a study participant. At age 12, she took her first flight out of Kentucky and received the gene therapy in both eyes, starting with the one with worse vision.

"We didn't know if I was going to get worse, stay the same or get better," she said. "But in my mind, I was going to be completely blind by 18, so what's knocking a couple years off?"

The improvements were almost immediate, however. Lovelace recalls her granddaughter commenting on her wrinkles as soon as the eye patches from the procedure were removed. Misty could make out the fine hairs on the manes of horses, her favorite animal and hobby. Rainbows and stars, though, she found underwhelming.

More than eight years later, Misty says she's grateful she "took the leap," attributing to Luxturna her independence and ability to pursue a career as a horse trainer.

Misty Lovelace

Courtesy of Misty Lovelace

Results from early participants like Misty led to the formation of Spark Therapeutics and a larger clinical trial in Pennsylvania and at the University of Iowa that gave the biotech company the evidence needed to approach the FDA.

On Oct. 12, 2017, a panel of scientists and FDA advisers unanimously endorsed the gene therapy, with Misty one of several individuals who shared their stories. The FDA followed with an approval on Dec. 18, a gene therapy milestone.

"For many of us, this is exactly the type of disease that we hoped that gene therapy would someday treat," Wilson Bryan, director of an FDA office tasked with reviewing Luxturna, said at the time. The next year, Luxturna was also approved in Europe.

It's unclear how many people have received Luxturna since. A Spark spokesperson told BioPharma Dive the company does not disclose that information. In 2019, the company told the Philadelphia Business Journal it had shipped 75 vials of the gene therapy in its first year post-approval. (One vial is used per eye.)

Spark is now owned by the Swiss pharmaceutical company Roche, which does not disclose sales of Luxturna. In February, however, Roche reduced the accounting value of Luxturna, citing "reduced sales expectations."

Luxturna consists of one hundred and fifty billion copies of the corrected RPE65 gene encoded into modified viruses, which are delivered into the eye via about 0.3 milliliters of liquid. Those few drops are injected underneath the retina and, over the course of a week, the viral particles shuttle the functional gene into the patient's eye cells. Once inside, the gene instructs the cells to produce a protein that's otherwise missing, helping restore visual function.

Vials of Luxturna

Spark Therapeutics

"This is not a cure," said Jason Comander, a physician at Massachusetts Eye and Ear in Boston who has administered Luxturna. "It will not make your vision normal," he added, "and there's a small chance that it could hurt your vision." Comander consults with other drugmakers and in 2019 received a nominal amount from Spark.

Luxturna also benefits each patient differently. Comander said the vast majority gain some night vision, while others report improvements in central or side vision. Some see more substantial improvements one of his patients was able to see in up to one thousand times dimmer light than in pre-surgery exams. Many have been able to walk without canes and read without using Braille after surgery.

Their vision isn't perfect, however. Some recipients, Misty included, are still considered legally blind and unable to drive. How long the benefit of gene therapy treatment will last is still unclear, though a recent study co-authored by Maguire and Bennett indicated "improvements were maintained up to 3 to 4 years" after Luxturna.

Comander, who was in his residency while Luxturna was tested, said seeing Maguire administer the therapy affirmed his decision to go into the practice. Now, Comander has done close to a dozen surgeries; his youngest patient was 4 years old at the time of treatment and his oldest was in their 30s. While younger patients saw greater improvements, each patient's eyes functioned better in lower light following treatment.

For Comander, Luxturna was an inspiration, one that he said has helped fuel greater interest in gene therapy. "Many careers have been dedicated to expanding on the success of Luxturna, and it's made a huge difference in the field," he said.

Since Luxturna's clearance, Novartis won FDA approval in May 2019 for a spinal muscular atrophy treatment known as Zolgensma, making it the second gene therapy for an inherited disease available in the U.S. A handful of other gene therapies are in late-stage testing and, behind them, are an expanding pipeline of experimental medicines for a constellation of genetic conditions. In 2020 alone, the FDA received more than 230 applications from cell and gene therapy developers to begin clinical trials, the head of the agency's biologic drugs division said earlier this year.

Gordon "Creed" Pettit was one of the kids who couldn't get into clinical trials for Luxturna. His mother, Sarah St. Pierre-Pettit, brought him from Florida to the University of Iowa a number of times. But he couldn't get through the tests needed to qualify him for treatment.

From there, it was a waiting game until Luxturna's approval. Soon after the FDA's decision, Pierre-Pettit brought Creed to Audina Berrocal at the Bascom Palmer Eye Institute in Miami.

Gordon "Creed" Pettit and Audina Berrocal, the surgeon who administered Luxturna to him.

Photo courtesy of Sarah Pierre-Pettit

Creed was Berrocal's first Luxturna patient. As a pediatric retina specialist, Berrocal said Spark sought her out in the fall of 2017. To date, she's performed a dozen surgeries, all of which have yielded positive results.

"Of all the things I've done in my career, this has been the most amazing and the most rewarding in the sense that we are changing the genetics, the DNA of a person, and we're allowing them to do things that before they couldn't do," Berrocal said. Berrocal consults with other drugmakers and has contributed to published research on Luxturna. In 2018 and 2019, she received nominal payments from Spark.

But treatment, even when positive, can come with adjustments, too. In Creed's case, he was overwhelmed by the sudden change, at first telling his mother he wished he had his old eyes back.

With time, however, Creed has started challenging himself more. "I think most of the gains were at the beginning," Pierre-Pettit said. "Whatever Luxturna did is done. But now that he finally feels confident with himself, he's putting Luxturna to the test now."

For Creed, that means being more social and inquisitive about the world around him. Now 12 years old, he hasn't mentioned wanting his old eyes back for years.

"It's still almost like a new kid every day, like a new baby that sees something new," his mother said.

From a young age, Luke Ward told his mother, Stephanie Joachim, about his dream of playing soccer. But the sport as well as many other daily tasks seemed out of reach.

His vision problems were apparent from birth. While his twin sister could track people with her eyes, Luke stared only at sources of light. When he started walking, he needed to put his hands out to stop himself from running into walls.

Genetic testing revealed Luke had LCA. His doctor said he'd be legally blind by kindergarten. Around the same time, Joachim read an article about Luxturna, but was too late to get Luke enrolled in clinical testing. By the time the FDA approved the therapy, the family had already decided that Luke was getting Luxturna.

Luke Ward with his twin sister, Leia.

Courtesy of Stephanie Joachim

But Joachim was anxious after learning Luxturna's price tag of $425,000 per eye. "I was just flabbergasted and I was like, 'You know what, it's fine. We have the best health insurance,'" she said.

To the family's disappointment, and as other Luxturna patients have experienced, insurance denied the request and cited the therapy's then "newness" as a reason.

At some point in the process, however, Luke's file crossed the desk of an anonymous person who was "so moved from Luke's story and from Luke's pictures, he volunteered to pay for Luke's surgery," Joachim said.

Luxturna's cost was criticized when the therapy was approved and has remained an issue within the patient community since. Shortly after the FDA gave its OK, Spark announced a program with health insurer Harvard Pilgrim and affiliates of Express Scripts, through which the company agreed to pay rebates if the drug doesn't help patients meet certain thresholds.

In a statement to BioPharma Dive, Spark said it offers a "range of patient services and payment models to help navigate and support access" to Luxturna, but did not respond to questions on the number of times rebates have been paid.

Luke Ward

Courtesy of Stephanie Joachim

"Parents shouldn't be paying for this out of pocket," Berrocal, who was also Luke's surgeon, said.

Berrocal told Luke he's the "poster child for Luxturna," Joachim said. He can play sports with his twin sister, including soccer and tee-ball. He started kindergarten this year and has no issues seeing the whiteboard. He still has visual impairments, though, including his peripheral vision. His mother says they keep their shoes tucked out of the way in the house to prevent Luke from tripping.

Four years after its approval, Luxturna continues to be sought out by patients. Joachim says she's received messages from people in Spain, South Africa and the U.K. inquiring about Luke and his progress.

And as Luxturna keeps working, other drugmakers hope to replicate its success. The eye, in particular, is the focus of many gene therapy developers, as it's easy to access and targeting it doesn't carry as many safety risks as other organs. Novartis, which sells Luxturna in Europe, AbbVie, Biogen and Johnson & Johnson are all exploring gene therapies for the eye.

Research into gene editing is advancing as well. In September, Editas Medicine shared preliminary results from the first trial testing a CRISPR gene editing treatment that does its work inside the body. Treatment appeared safe, although the efficacy results were mixed, with several patients experiencing little improvement in vision. The treatment uses CRISPR editing to restore the function of eye cells in people with another form of LCA known as type 10.

Berrocal believes Luxturna represents the beginning of what genetic medicine can offer to patients with many inherited diseases, not only those of the eye.

"20 years from now, we could look back and say, 'Oh my god, that was so rudimentary. Look how much you have advanced,'" she said. "But we have to start somewhere, right? And in 2021, this is what we have, and it's working."

Continued here:
Years later, a first-of-its-kind treatment shows the power, and limits, of gene therapy - BioPharma Dive

The first time geneticist George Church visited Siberia was the first summer the permafrost melted.

Permafrost by its nature is supposed to stay frozen year-round, but in a marker of encroaching climate change, in 2018 the top layer of soil thawed and didnt refreeze. Microbes began to eat the carbon that had been locked away in the ice and released it into the air as methane gas. Church watched a teammate light a match and ignite a pocket of the gas that hovered over the softening bog they stood in.

That was an ominous sign, Church recalled. Today, he says, thawing permafrost is burping up methane at an alarming rate, given that the gas is 30 times more potent than carbon dioxide in contributing to global warming.

The sight reinforced Churchs determination to combat climate change by ensuring that the worlds permafrost stays frozen, keeping its estimated 1.4 trillion tons of stored carbontwo and a half times more than the Amazon rainforest harborstucked safely away.

His plan for doing so: Genetically modifying a group of elephants to thrive in the cold and moving them north so their daily activities contribute to preserving and restoring Arctic environments.

Harvard Medicine News spoke with Church about this unusual approach to climate mitigation and the latest developments in his labs efforts. Church is the Robert Winthrop Professor of Genetics in the Blavatnik Institute at Harvard Medical School and a founding core member of the Wyss Institute for Biologically Inspired Engineering at Harvard University.

Church: People tend to use the shorthand that were de-extincting mammoths: bringing them back to life after the last of them died about 4,000 years ago. Were not. At least, not in the near future. Were trying to de-extinct genes. The field has actually already done this with two genes that confer cold-resistant properties to organisms. The idea is to safely introduce these and other genes into present-day elephants so the elephants can comfortably live in and restore Arctic environments.

Church: The main reasons have to do with biodiversity and climate mitigation.

A question we get asked frequently is, Why de-extinct something that already had its chance; why dont you focus on endangered species and saving them from going extinct? Well, thats exactly what were doing. Were dealing not with mammoths but with modern endangered species.

All elephant species are endangered. Were trying to give them new land in the Arctic thats far away from humans, who are the major culprits causing extinction. Were trying to cure Asian elephant-specific herpesvirus, which can be deadly, especially in young elephants. Were trying to develop tools that might be useful for other endangered species that other teams might be interested in working on.

The two-for-one is that not only would the elephants get a new homeland, but their homeland is in desperate need of environmental restoration, and they can help. Moving genetically adapted elephants to the Arctic offers an opportunity to sequester, or remove from the atmosphere, significant amounts of carbon and to prevent more carbon from escaping.

Understanding how this might work requires connecting a few dots. Elephants knock over trees, reducing bark that absorbs sunlight and heats the ground. Clearing a portion of the tree cover allows the animals to walk through new areas and pack down the snow there, facilitating permafrost freeze. Otherwise, the snow forms a fluffy, insulating layer that keeps the topsoil warm.

Basically, the idea is that we need to convert a portion of trees in the Arctic back to grass, and elephants are the only living large herbivore that will do that. They do so quickly and easily, and they like doing it. So a genetically adapted elephant-mammoth hybrid might prove to be a good proxy species for the ecological role the woolly mammoth used to play.

Church: Were trying to gather genetic diversity. We know diversity is useful for survival in a changing or new environment, and were getting better at identifying and gathering genes that are important for a given traitin this case, cold tolerance and virus resistance.

Were no longer limited to searching for beneficial genes in one elephant herd or even the global elephant population; now we can go all around the world, even to distant species, and back in time up to 1 million years to discover and obtain those genes. The DNA that mammoths left behind in their bones can offer us the genetic code for traits like warm, woolly hair and thick, subcutaneous fat.

Church: Most of the projects Ive worked on in my careerlike the publicizing and privacy of personal genomes, development of devices that print synthetic DNA, gene drives that eliminate malaria parasites from mosquitoesrequire broad public engagement. The problem isnt always getting scientists engaged; its getting the public engaged. People are focused on how to put food on the table and get their kids educated. The latest cutting-edge scientific thing is not always perceived as important.

As a start, my research group has worked with HMS geneticist Ting Wus Personal Genetics Education Project to brief Congressional staffers, who then bring information back to their constituents. Were working with writers who reach millions of people through their narrativesand the Arctic elephant story resonates particularly well. Were reaching out to representatives of key populations, including people from Indigenous groups, Arctic farming communities, other industries, and governments. Well engage with anyone who wants to participate, whether they take a positive or negative view of the work.

Church: I am a scientific co-founder of Colossal but have no management role there. The company is providing funding for my labs work toward creating an elephant-mammoth hybrid through a sponsored research agreement with Harvard. Its fairly open-ended research that we would have done anyway if wed had the money for itin fact, we were already doing some of the work through sparsely funded or volunteer labor. Now that Colossal has dedicated some funding to it, this work in my lab is a much more concerted and defined project that well be pursuing over the next few years.

Church: Definitely. First of all, climate change itself is a human health issue. Preventing further warming or reversing existing damage by sequestering carbon would safeguard human lives along with the ecosystems.

Side products of the Colossal effort will be technologies from my lab, with an additional potential for great impact on human health. Some of what were doing with reproductive medicine in elephants, like making gametes and finding ways to handle premature births, may open a path into various assistive reproductive technologies in humans, making those procedures safer for all sorts of cases.

There is a lot that human medicine and animal medicine can learn from one another. Weve seen in the past that a lot of our work on reading and writing DNA and developing medical diagnostics and therapeutics is directly translatable to veterinary efforts.

Church: Our lab does a lot of basic engineering and a little bit of basic science, and were heavily dependent on basic science from our close colleagues. An example of such pure science was the discovery of a repetitive family of gene sequences now called CRISPR. That was seen as just a bunch of junk DNA at first, and now it has revolutionized our ability to edit genes for medical and industrial purposes. The genomic sequencing of lots of vertebrate species, including extinct species, was basic science without necessarily any particular goal in mind, and that has been very valuable.

Church: Were trying to efficiently identify and test genes that would provide adaptation to Arctic environments. Weve been developing methods for multiplexed editingthe ability to make thousands of genetic and epigenetic changes at once. This allows us to turn adult elephant cells into pluripotent stem cells, introduce the changes, and mature the cells back into adult-like tissues fast, within four days to a couple of weeks, so we can then study our genes of interest as a batch. Speed and volume are important because introducing a single change and waiting for an entire elephant embryo to mature would take 22 months. In the time it would take to study every gene candidate that way, the climate crisis would either be resolved by some other method or have caused societal collapse.

Our record for multiplexed editing in general now is 22,000 edits in a few days. The number of edits well need to make in the elephant isnt clear yet. It could be as few as 40, which is the number of changes we made in the pig genome to facilitate organ transplantation to humans, and it probably wont be more than 500,000, which is the number of fixed genetic differences between mammoths and elephants.

Were also pushing the science forward on reprogramming techniques to grow healthy gametes and promote safe in vitro fertilization and embryonic development so that when the research is ready to deploy, elephants can successfully gestate the genetically modified offspring. Because we dont want to hinder the reproduction of endangered species.

Church: The big ones are the multiplexed editing and both accelerated and normal in vitro development. For initial testing, you want accelerated development. For complete testing and to ultimately birth calves, you need normal-speed development.

Getting ready for further down the road: Strategies are being developed for where the elephants should be located, how to guide them away from places where people live and toward places where they could contribute to reducing carbon risk, and what the appropriate landscapes and flora should be, including specific flowering plants they like to eat. These behavioral and geopolitical realities might take more time than the actual engineering.

People with sophisticated modeling tools want to be involved. Its better to find out now with a good model whether theres a problem than six years from now. Carbon reserves vary from place to place in the Arctic, and it might take dispersing elephants over only a small fraction of its 20 million square kilometers, in precisely targeted areas, to get the climate impact we want.

Church: The six-year estimate for birthing an Arctic-adapted elephant calf is an ideal-case scenario based on working backwards from the 22-month gestation period, figuring another two years to achieve successful IVF embryos in mice, and two years in between for debugging the system for producing healthy elephant fetal development. That assumes everything goes smoothly along the way, which doesnt typically happen.

I used to predict that reaching the final stage would take a very long time, maybe decades, because we didnt have any appreciable funding, and it does depend on funding. Today, I think six years is a good goal to strive forbut its not a promise. Its a similar kind of ambitious, engineering-focused, team-based target that President Kennedy set when he declared we would put a person on the moon within a decade. The scientific challenges of this project are considerable but ultimately surmountable. The bioethical dimensions are paramount. The execution will no doubt be daunting. However, we owe it to science, to humankind, to our fellow species, and to our planet to try.

This interview was edited for length and clarity.

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A mammoth solution - Harvard Office of Technology Development

PARIS, Nov. 15, 2021 /PRNewswire/ --Coave Therapeutics ('Coave'), a clinical-stage biotechnology company focused on developing life-changing gene therapies in rare Ocular and CNS (Central Nervous System) diseases, today announced that it has strengthened its leadership team with the appointments of Thomas Blaettler MD, as Chief Medical Officer, and Patricia Franon PhD, to the newly created position of Chief Operating Officer.

"I am very pleased to welcome Thomas and Patricia to the leadership team at Coave. Their collective accomplishments and deep domain expertisein neuroscience, cell and gene therapy, in addition to their extensive clinical drug development and project management experience will be invaluable as we progress our lead candidate through clinical development and advance our pipeline of novel gene therapies into clinical development targeting rare Ocular and CNS diseases," said Rodolphe Clerval, CEO.

Thomas Blaettler, MD

Dr Blaettler is an expert in the neuroscience therapy area, having over 25 years' experience in the field, both in clinical residency and industry. Thomas joins Coave from Orphazyme A/Swhere, since 2016, he served as Chief Medical Officer and was responsible for devising the clinical development strategy and progressing the company's rare neurodegenerative pipeline. In addition to championing the clinical and regulatory strategy, Thomas has contributed to Orphazyme's IPO on both the Copenhagen and Nasdaq stock exchanges. Prior to Orphazyme, Thomas held global leadership roles within the clinical neuroscience divisions at both Roche and Bristol Myers Squibb, with a further neuroscience translational medicine role at Novartis.

"I am delighted to be joining Coave at such an exciting stage of development," said Dr Blaettler. "I look forward to progressing CTx-PDE6b through the clinic, and to contributing to the advancement of the company's pipeline of next-generation gene therapies, which have the potential to deliver life changing outcomes for rare disease patients."

Thomas completed his Doctor of Medicine at the University of Zurich in 1994 and went on to complete almost 10 years of clinical residency and research in the neurology field. Thomas gained board certification from the Swiss Society of Neurology in 2003.

Patricia Franon PhD

Dr Franon is an experienced biotech professional with over 20 years' experience leading global CMC and regulatory strategies for the accelerated development of innovative biologics, advanced cell & gene therapies. Patricia joins Coave from Skinosive where she served as Chief Operating/Technology Officer, managing operational aspects of the business, proactively driving the company towards achieving its development goals. Patricia has also held various clinical development roles at Sartorius, Neuro-Sys, Enterome, Evry, Cellectis, Anaconda Pharma and Sanofi, managing all aspects of product development, coordinating multiple studies, selecting partners and managing regulatory processes.

"Coave's ALIGATER technology is truly innovative and demonstrates an important ability to provide gene therapies with increased tissue targeting and transduction, designed to enhance their potency and efficacy," added Dr Franon. "I look forward to working with Rodolphe and the team to drive the company forward on its mission of improving the effectiveness of advanced gene therapies for rare diseases."

Patricia obtained her PhD in Molecular and Cellular Biology from Paris VI University and completed postdoctoral research at McGill University.

About Coave Therapeutics

Coave Therapeutics is a clinical-stage biotechnology company focused on developing life-changing gene therapies in rare ocular and CNS (Central Nervous System) diseases.

Coave Therapeutics' next-generation AAV-Ligand Conjugate ('ALIGATER') platform enables targeted delivery and enhanced gene transduction to improve the effectiveness of advanced gene therapies for rare diseases.

The Company is advancing a pipeline of novel therapies targeting rare ocular and brain diseases where targeted gene therapy using AAV-Ligand has the potential to be most effective.

Coave Therapeutics, which is headquartered in Paris (France), is backed by leading international life science and strategic investors Seroba Life Sciences, Tha Open Innovation, eureKARE, Fund+, Omnes Capital, V-Bio Ventures, Kurma Partners, Idinvest, GO Capital, Sham Innovation Sant/Turenne.

For more information, please visit http://www.coavetx.com or follow us on LinkedIn http://www.linkedin.com/company/coavetx/

CONTACTS

Coave Therapeutics Rodolphe Clerval, CEO [emailprotected]

MEDiSTRAVA ConsultingSylvie Berrebi, Eleanor Perkin, Mark Swallow PhD[emailprotected] Tel: +44 (0)7714 306525

SOURCE Coave Therapeutics

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Coave Therapeutics Strengthens Leadership Team with the Appointments of Thomas Blaettler MD as Chief Medical Officer and Patricia Franon PhD as Chief...

The two partners will work together to identify areas ripe for innovation, hire a Founding Analyst to evaluate potential approaches for scientific and commercial viability, build teams around the optimal approaches, and create one or more high-impact ventures.

As well as improving patient outcomes, the partnership hopes to spur innovation in the sector and open up job opportunities.

The CGT Catapult was established as an independent center of excellence to advance the UK cell and gene therapy industry, bridging the gap between scientific research and full-scale commercialization. Deep Science Ventures, meanwhile, uses a unique venture creation process to create, spin-out and invest into science companies: earmarking high-impact ventures across pharmaceuticals, energy, agriculture and computation.

Recent advances in cell and gene therapies promise potential cures to some of mankind's most devastating diseases, the partners said as they announced their collaboration.

However, major hurdles still need to be overcome, including ensuring target specificity and effective manufacturing at scale.

This collaboration will leverage Deep Science Ventures novel outcome-focused approach to venture creation, which combines available scientific knowledge and founder-type scientists into high-impact ventures. CGT Catapult will provide its cell and gene therapy-specific technical, non-clinical and regulatory expertise to apply Deep Science Ventures approach to the ATMP sector.

Deep Science Ventures has so far built and invested in nine brand new companies in the curative therapeutics space, including three oncology ventures last year with Cancer Research UK. The nine companies are ConcR, ImmTune, Enedra, Neobe and Stratosvir (oncology); Reflection Therapeutics (neurodegeneration) and CC Bio and Ancilia (microbiome and AMR).

Only 10% of drugs succeed at Phase 3 clinical trials. DSV says the current rate of therapeutic failure is unsustainable and unnecessary: with various reasons ranging from poor models to lack of specificity.

It says the emergency of personalized and precision therapeutics creates the opportunity to address entrenched and repeated failures across the process of bringing a new product to market.

This includes leveraging computation to unpick complex dynamic systems, move the computation into the therapeutic itself, address root causes directly and drive the creation of better models and markers.

At DSV we aim to get back to first principles and understand the root cause and bottlenecks that have led to past failures. Not just failures in the science but perhaps even more importantly, to discover the gaps and biases in the innovation pipeline.

Our approach is to forge a less linear R&D process identifying analytical and model approaches that fully capture complexity and patient specificity; and force a truly multi-stakeholder creation process with academics, venture capital, charities and industry engaged in the design process from day one.

CGT Catapult will be speaking in our upcoming webinar: 'Cell and gene therapies: How can their promise be realized?'. Register for free here.

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Cell and Gene Therapy Catapult and Deep Science Ventures collaborate to overcome barriers in ATMPs - BioPharma-Reporter.com

Dr Pengyi Yang uses computational expertise to build virtual cells.

DrPengyiYanghasreceived one of two annual $55,000 Metcalf Prizes from the National Stem Cell Foundation of Australia inrecognition of his leadership in the field.

DrYangholds a joint position with the University of SydneySchool of Mathematics & Statistics, theCharles Perkins Centreand theChildren's MedicalResearch Institute. His work aims toremove much of the guesswork from stemcell science and eventually stemcell medicine.

Todays stem cell treatmentshave beenthe product of trial anderror, DrYang said.

My virtual stem cell will allow us to understand whats happening inside a single stem cell that makes it decide what type of cell it will becomesuch as, but not limited to,hair, skin, muscle, nerveorbloodcells.

He is mapping the many, complex influencescontrollingstem cells andthe waythey specialise into different cell types.

Stem cells are amazing because they can produce any kind of cell in the body. Theyre fundamental toregenerative medicine,DrYang said.

But, when theircontrols fail,rogue stem cells can lead to cancer.

Allhumanlifestartsas a single stem cell. It goes on to produce cells that eventually become every type of tissue and organ of the human body. Even in adulthood, stem cellsrepairandreplacetissue all the time.

People are excited about the potential of stem cell medicine, but thereality is extremely complicated. Thousands of genes, complex gene networks, environmental factors, and an individuals own health are all involved in pushing stem cells to become specific cell types,DrYang said.

DrYang, a computerscientist turned stem cell researcher, uses computational science and statistics to understand how stem cells function at a fundamental level work that will be useful forthe entire stem cell field ofresearch.

We need a computermodel to bring all of these influences togetherso we can identify the specific gene networks that drive the stem cells towards each cell type,he said.

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Dr Pengyi Yang wins National Stem Cell Foundation Metcalf Prize - News - The University of Sydney

SEATTLE, Nov. 12, 2021 /PRNewswire/ --The global regenerative medicine market is estimated to account for25,959.5Mn in terms of value by the end of 2028.

The field of regenerative medicine encompasses three areas that researchers from all around the world have been investigating: stem cell therapies, adult stem cell therapies, and gene therapy.Regenerative medicine seeks to treat illness by using the body's own ability to make new tissue, organ, or even cells. This field is the subject of regenerative medicine research all over the world. While the field of regenerative medicine continues to grow, there has been a lot of interest from the pharmaceutical and biotech industries with the hopes of finding treatments for age-related illnesses such as Alzheimer's and Parkinson's disease. However, the field of stem cell therapies is relatively new with researchers discovering and testing ways of producing new stem cells from adult cells in the human body. These stem cells are then injected into the patient in hopes that the new cells will grow and multiply and thus cure the patient of an illness or disease. Stem cell therapies has been successful in many cases, but scientists continue to research and test more effective methods. Another area that regenerative medicine looks into is the development of new and effective organs for transplant. Scientists and doctors have been trying for years to develop organs that can replace ones that are damaged or destroyed in certain accidents or diseases.

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Market Drivers:

Growing initiatives by key players to launch various regenerative medicine therapies is driving growth of the regenerative medicine market. For instance, in May 2021, The SingHealth Duke-NUS Academic Medical Centre (AMC) has announced the launch of a research institute and disease center that will advance regenerative medicine and introduce cellular therapies to improve patient care.

The increasing focus of key players on R &D of gene and stem cell therapy is again fostering growth of the market. For instance, in October 2021, VectorBuilder Inc. and Landau Biotechnology Co., have entered into a strategic partnership to establish the first primate gene therapy R&D center. The center will build advanced vector screening and optimization platforms to provide unique CRO services to the rapidly growing gene and cell therapy industry.

Market Opportunities:

Growing incidence of bone and joint disorders and orthopedic surgeries around the globe is expected to offer lucrative growth opportunities to the regenerative medicine market. According to Joint-surgeon.com, more than 24,000 orthopedic patients are treated per year. More than 2400 surgical procedures are performed per year. More than 250 international patients are treated per year.

Increasing development and launch of various novel innovative regenerative medicines products is expected to serve potential growth opportunities. For instance, in January 2021, Essent Biologics, a nonprofit biotechnology company, announced its launch to provide human-derived biomaterials and 3D biology data to the regenerative medicine research community.

Market Trends:

Growing number of public-private partnerships and agreements among key players is a major trend observed in the market. For instance, in February 2018, The National Institute of Standards and Technology (NIST) and the Standards Coordinating Body for Gene, Cell and Regenerative Medicines and Cell-based Drug Discovery (SCB) have partnered for the development of standards for accelerating R&D and clinical translation of regenerative medicine and advanced therapies.

The increasing focus of key players to invest in the field of regenerative medicine is expected to stimulate growth of the market. For instance, in September 2021, PTC Therapeutics announced that it will provide initial funding of $60 million to the Spinal Muscular Atrophy (SMA) Foundation to discover and develop regenerative medicines for neuromuscular diseases to help restore patients lost function.

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Competitive Landscape:

Major players engaged in the global regenerative medicine (Bone and Joint) market include Anika Therapeutics, Inc, Baxter International, Inc., Arthrex, Inc., CONMED Corporation, Medtronic, Plc, Smith & Nephew plc, Johnson & Johnson, Stryker Corporation, Aziyo Biologics, Zimmer Holdings, Inc., and Ortho Regenerative Technologies Inc etc.

Market segmentation:

Global Regenerative Medicine (Bone and Joint) Market, By Technology:

Global Regenerative Medicine (Bone and Joint) Market, By Application:

By Geography:

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Regenerative Medicine Market to reach US$ 25,959.5 Mn by end of 2028, Says Coherent Market Insights - PRNewswire

Identifying the genetic causes of rare neurodevelopmental disorders can be quite challenging. In a recent study, a global scientific team including researchers from Baylor College of Medicine, worked to find genetic answers for Turkish families.

Its very common in clinical practice to see a patient whose characteristics do not match what has been documented in the literature, limiting the physicians ability to guide clinical care and provide information about which other family members might be at risk, said Dr. Tadahiro Mitani, a postdoctoral associate in Dr. James R. Lupskis lab at Baylor College of Medicine.

In the current study, explains Mitani, who is the first author of the work by a team of 50 investigators from around the world, the researchers looked to identify the genetic causes of rare neurodevelopmental disorders in 234 subjects and 20 previously unsolved cases of affected families of the Turkish population.

To achieve this goal, we integrated improved genome-wide screening technologies, including exome sequencing and whole-genome sequencing, and newly developed computational tools and bioinformatic analyses to improve our ability to identify the genetic underpinnings of rare neurodevelopmental conditions, said co-corresponding author Dr. Davut Pehlivan, assistant professor of pediatrics neurology at BCM.

The researchers started this project in 2011 and over the years developed close collaborations with physicians and patients worldwide, as well as with researchers in the fields of genetics, genomics and bioinformatics. The team used GeneMatcher, a freely accessible web-based matchmaking service designed to enable connections between clinicians and researchers from around the world who share an interest in the same gene or genes.

The team identified new genes and confirmed genes previously associated with neurodevelopmental disorders.

They were able to make a molecular diagnosis in 181 of 254 (71%) of the individuals in this study and in approximately 80% of neurodevelopmental disorders overall. Twenty of the 181 diagnosed individuals had been studied before, but at the time the researchers did not identify a genetic diagnosis.

Our findings confirm that applying newly developed molecular and computational tools on existing data can provide answers to previously undiagnosed families, Pehlivan said.

Importantly, we also found an explanation for the diagnostic challenge presented by conditions with characteristics that do not match what has been reported in the medical literature, said Mitani, currently at Jichi Medical University, Tokyo, Japan. We determined that the accumulation of particular combinations of rare disease-causing gene mutations at multiple genes, a phenomenon called multilocus pathogenic variation, results in complex characteristics unique to each individual.

The original idea that a single disorder is caused by a mutation in a single gene does not explain the variety of complex neurodevelopmental disorders, Pehlivan explained.

In multilocus pathogenic variation, one patient may have multiple mutated genes. For instance, one gene mutation may result in muscle disease and a different gene mutation that leads to brain disease, while in another patient one mutation may affect the kidneys and another the brain.

The accumulation of specific combinations of rare multiple mutated genes results in conditions with complex characteristics that are unique to each individual.

Patients may present with neurodevelopmental disorders that share similarities but also have important differences, which need to be taken into consideration when deciding treatment and when evaluating risk for other family members.

In this study, for the first time we strictly applied a set of criteria to evaluate multilocus pathogenic variation in our patients and found that it was present in 28.9% of the cases in which we established a genetic diagnosis, Pehlivan said. Our findings confirm the value of routinely applying these criteria to assess the contribution of multilocus pathogenic variation to rare neurodevelopmental disorders and again revealed why genomic studies are superior to single gene testing.

The integrated analyses of the genetic and genomic characteristics of each patient enabled the team to improve their ability to reach a diagnosis in many cases, said co-author Dr. Zeynep Coban Akdemir, assistant professor at UT Health School of Public Health-Houston. Most patients with multilocus pathogenic variation are in consanguineous families.

With studies such as this one, we seek to tackle the challenge of finding the cause of currently unexplained rare genetic disorders, said co-author Dr. Jennifer Posey, assistant professor of molecular and human genetics at BCM. Posey also leads the newly launched BCM GREGoR (Genomic Research to Elucidate the Genetics of Rare) program, a part of the NIH-funded GREGoR Consortium.

The researchers comprehensive approach also adds a valuable resource of information to the study of the function of human genes, human biology and molecular mechanisms involved in neurodevelopmental disorders, all of which can lead to improved diagnosis and treatments.

For a complete list of the contributors to this paper, their affiliations and the financial support for the work, see the publication in The American Journal of Human Genetics.

By Ana Mara Rodrguez, Ph.D.

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Researchers make strides identifying genetic causes of rare neurodevelopmental disorders in the Turkish and worldwide populations - Baylor College of...