Category Archives: Gene Medicine

GENEVA andCASTRES, France, Nov. 15, 2021 /PRNewswire/ --The EspeRare Foundation and the Pierre Fabre group announced today the start of the EDELIFE clinical trial aimed at confirming the safety and efficacy of ER004, a prenatal treatment for XLHED (X-linked Hypohidrotic Ectodermal Dysplasia), a rare and debilitating congenital disease. If positive, the study could lead to the first approved treatment for XLHED by 2026.

XLHED is a rare disease which affects approximately 4/100,000 live male births every year. This genetic disorder is a dermatologic-related condition which leads to abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity and respiratory mucosal glands resulting in serious clinical manifestations such as hyperthermia, craniofacial anomalies and recurrent respiratory infections.

"Starting patient enrolment in the EDELIFE clinical trial is a huge milestone for the Hypohidrotic Ectodermal Dysplasia community," said Caroline Kant, the Co-founder and CEO of the EspeRare Foundation, the primary sponsor of the study. "Administered during the second and third trimesters of pregnancy, ER004 has the potential to become a 'single-course treatment,' which significantly improves the symptoms of this debilitating disease throughout the lives of patients. If successful, ER004 could fundamentally change the lives of these patients and may also pave the way for other prenatal therapies to correct genetic diseases before birth."

The EDELIFE clinical trial will investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male foetuses who have been confirmed to have XLHED. In the main study phase, efficacy and safety of approximately 15 treated children will be assessed up to 6 months of age and safety of the mothers will be assessed up to 1 month after delivery. In the long-term follow-up phase, efficacy and safety of the treated children will be assessed up to 5 years of age. Treated children's sweating ability will be compared to that of an untreated affected relative, when available, or to that of a genotype-matched control subject coming from disease natural history data. The main phase of the clinical study is expected to last until 2025.

The study starts first in Germany, at the University Hospital of Erlangen, with Pr Schneider as the study coordinating investigator. Additional study centers will be progressively opened in France, Italy, Spain, United Kingdom and the USA.

"The EDELIFE study truly exemplifies Pierre Fabre's commitment to supporting those with rare dermatologic diseases as we have already done in infantile hemangiomas," said Eric Ducournau, CEO of the Pierre Fabre Group. "Our priority is to enrol 20 pregnant women with a confirmed diagnosis of XLHED in the foetus. As this is a very rare condition, together with the patient community, we are doing everything we can to support these women participate in the study, including helping them travel to a nearby country if there is no open investigational site in their own country."

The treatment ER004 has received the "breakthrough therapy" designation in 2020 by the US Federal Drug Administration (FDA). Its clinical development also benefits from the European Medical Agency's (EMA) PRIME (PRIority MEdicines) program.

A dedicated web site (www.EDELIFEclinicaltrial.com) is being made available for interested families, providing details on the clinical trial and the conditions for enrolment. Details are also available on http://www.clinicaltrial.gov.

About XLHED

XLHED is a severegenetic disorder that affects the structure of the ectoderm, the most exterior part of the three primary germ layers formed during early embryonic life, from which the skin and its appendages are derived. XLHED is caused by mutations in EDA, a gene that encodes an important developmental signaling protein, EDA1. The absence of functional EDA1 in the ectoderm results in abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands.

About ER004

ER004 is a pioneering in-utero therapy designed to replace the function of endogenous Ectodysplasin A1 (EDA1), a protein key to the normal development of ectodermal structures in the foetus. ER-004 is a recombinant, soluble, and humanized form of EDA1 that is given as a single course treatment and delivered through intra-amniotic injections during the late stage of pregnancy. This approach has already demonstrated a significant potential in humans where it normalized sweat gland function in three patients treated in this fashion by Prof. Holm Schneider at the University Hospital Erlangen in Germany. First results were published in the New England Journal of Medicine[1] and in the British Journal of Clinical Pharmacology[2] as well as featured in Nature Medicine's Research Highlights[3].

For more information on the EspeRare Foundation, please visit http://www.esperare.org.

For more information on the Pierre Fabre Group, please visit http://www.pierre-fabre.com.

References

1.Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Krber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann MW, Schneider P. N Engl J Med 2018; 378: 1604-1610.2.Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.Krber I, Klein OD, Morhart P, Faschingbauer F, Grange DK, Clarke A, Bodemer C, Maitz S, Huttner K, Kirby N, Durand C, Schneider H. Br J Clin Pharmacol. 2020;86(10):2063-2069.3. In utero correction of a genetic disorder.Stower H.Nature Medicine 2018; 24: 702.

Contacts:

EspeRare Foundation[emailprotected]

Pierre Fabre[emailprotected]

SOURCE Pierre Fabre; EspeRare foundation

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Pierre Fabre and the EspeRare Foundation start the EDELIFE clinical trial of a prenatal treatment for a rare genetic disease, XLHED - PRNewswire

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X-rays show dog lungs examined in the Valley fever veterinary vaccine trials. On the left is a fully vaccinated dog, in the center is a partially vaccinated dog, on the right is an unvaccinated dog.

When veterinarian Scott Hoffmanattended veterinary school in Ohio, heread about Valley fever, but never expected he'd encounter it. That changed when he began working in Phoenix.

At our clinic, I probably would say we see anywhere from two to 20 cases a month," Hoffman said of his central Phoenix practice, North Kenilworth Veterinary Care. "If youd interview other veterinarians they may even give you a higher number."

For dogs, Valley fever can mean coughing, weight loss, skin lesions, and even seizures. Hoffman warns clients the diagnosis typically precedes months of suffering for the dogs and months of veterinary bills for owners. Arizona dog owners spend about $60 million on the disease each year, according to the University of Arizona College of Medicine Valley Fever Center for Excellence. And Hoffman said theres really no way to avoid the disease.

Unfortunately, the No. 1 way you can prevent it is not live here in Arizona," Hoffman said.

That may soon change.For the first time, University of Arizona researchers say theyve found a vaccine that can prevent the illness in pets. Theyre hopeful it will protect humans someday, too.

Valley fever, or coccidioidomycosis,comes from a fungus that grows in desert soils. When dogs or humans inhale airborne fungal spores, the fungus can infect the lungs and other parts of the body. It can be a grueling disease, and its more common in Arizona than anywhere else.

Valley fever is considered an orphan disease because nationally, its a very small problem," said Dr.John Galgiani, director of theUniversity of Arizona College of Medicine Valley Fever Center for Excellence anddirector of the Banner Health Valley Fever Center. "But if you talk to people who have lived [in Arizona], everyone usually knows somebody who's had Valley fever. And it's often their dog."

Katherine Davis-Young/KJZZ

Dr. John Galgiani is a professor with the University of Arizona College of Medicine and director of the Banner Health Valley Fever Center.

Galgiani and other researchers have spent decades trying to find a vaccine to prevent Valley fever. But that goal has always been a long-shot. Not only does Valley fever not get the national attention and research funding that other diseases get, but there's never been a vaccine for a fungal illness in the history of medicine.

But Galgiani and his team say theyre onto something.

Lisa Shubitz, a veterinarian and research scientist with theValley Fever Center for Excellence, is the lead author ona new paper on a Valley fever vaccine trial in dogs. She said the findings came about in a stroke of serendipity.

Galgiani and Shubitz's team worked with Marc Orbach on the research. Orbach is aplant pathologist in the University of Arizona College of Agriculture and Life Sciencesnot the kind of scientist who might typically work on vaccine development. But in this case, Orbach's expertise was exactly what Valley fever researchers needed.

We were interested in, what are the genes in fungi that make them pathogens? So, what allows them to cause disease in hosts?" Orbach said.

Orbach and his lab isolated the gene they thought made the Valley fever fungus infectious and removed the gene. To test their theory, they exposed lab mice to their edited version of the fungus.Without that gene, the fungus didnt make the mice sick.

So the next question was, it doesnt make them sick; does it vaccinate them? Shubitz said.

Noelle Haro-Gomez/University of Arizona Health Sciences

Veterinarian Lisa Shubitz with the University of Arizona Valley Fever Center for Excellence is lead author on new research on a Valley fever vaccine for dogs.

After more trials in mice, researchers used the edited fungus to vaccinate a group of dogs. After vaccination, they exposed the dogs to real Valley fever spores.When they looked at those dogs lungs, in most cases, there were no detectable signs of infection. Only a few of the dogs had developed very mild lung infiltrates.

None of the dogs were sick, in other words, no one would have taken that dog to the vet," Shubitz said.

The dogs tolerated the vaccines well, and with two doses, Orbach said the vaccine was even more effective than researchers thought possible.

It was really exciting when we got the first results, pretty much beyond anything that we could expect because it was better than anything that had been tried," Orbach said.

The first-of-its-kind fungal vaccine is harder to preserve than traditional, viral vaccines. So now, researchers are looking for a way to give the vaccine doses a longer shelf-life. But theyre optimistic they could have their vaccine in veterinary offices by 2023 if they can get USDA approval.

It would be a huge step toward protecting Arizona dogs. But Galgiani said its exciting for another reason.

Sky Schaudt/KJZZ

It just looks like this vaccine works really, really well. And for me, as a physician, it adds that much more pretty powerful evidence that we should be able to do the same thing for humans," Galgiani said.

At least 9,500 Arizonans have been infected with Valley fever this year, according to the Arizona Department of Health Services. As with dogs, the human disease can last months. Galgiani said one of the most common symptoms is fatigue debilitating enough that it keeps people from being able to work. The illness has a $1.5 billion annual impact on Arizona and California's economies, according to the Valley Fever Center for Excellence.

A human vaccine wouldnt be very different from the veterinary vaccine, Galgiani said, but one major difference would be its development cost.

The veterinary vaccine is probably fully funded," Galgiani said. "But we dont have yet the funding for the human campaign.

He said development of the veterinary vaccine cost about $15 million. He expects years-long clinical trials for humans could cost ten times that.

Arizona Congressmen Tom OHalleran and David Schweikert recently signed ontoa bipartisan billalong with representatives from California to fund fungal vaccine research. Galgiani hopes the bill gets traction in Congress. And, even though Valley fever is most common to the Southwest, he hopes otherlawmakers will see the value of the investment.

This is a biohazard that we live in. Its a very small part of the country, but its ours, Galgiani said.

Challenges remain, but Galgiani is optimistic.Even if a human vaccine is still years away, he said, its more within reach now than ever before.

Katherine Davis-Young/KJZZ

Banner University Medicine in Phoenix

Katherine Davis-Young/KJZZ

The Banner University Lung Institute

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Arizona researchers have a Valley fever vaccine for dogs and that's good news for humans - KJZZ

For three decades, a mysterious cluster of proteins found on the cell body of neurons in the hippocampus has puzzled scientists. Highly conserved features are relatively unchanged through evolutionary timescales, suggesting they have an essential functional property in these very different types of animals.

A new study has finally revealed what these clusters are. The UC Davis School of Medicine study has shown that these mysterious clusters of proteins are calcium-signaling hotspots that activate gene transcription.

Transcription allows portions of the neurons DNA to be transcribed into strands of RNA that are then used to create the proteins needed by the cell.

Scientists knew that these clusters are formed by a protein that passes potassium ions through membranes. Whats more, these clusters have a particular type of calcium channel that allows calcium to penetrate cells. Inside the cells, the calcium triggers various physiological responses based on cell type.

Disturbance to these clusters can cause severe neurological disorders. But the reason behind it remains unclear.

To determine the function of the neuronal clusters, scientists came up with a new approach that allowed them to uncouple the calcium channel from the potassium channel clusters in neurons.

Nicholas C. Vierra, a lead author for the study, said,A key finding was that this treatment blocked calcium-triggered gene expression. This suggests that the calcium channel-potassium channel partnership at these clusters is important for neuronal function.

Scientists tricked the calcium channels at these clusters for their experiment by flooding the neurons with decoy potassium channel fragments. They fell away from the clusters when the calcium channels grabbed onto the decoys instead of the real potassium channels. As a result, the process known as excitation-transcription coupling, which links changes in neuronal electrical activity to changes in gene expression, was inactivated.

Trimmer said,There are a lot of different calcium channels, but the particular type of calcium channel found at these clusters is necessary for converting changes in electrical activity to changes in gene expression. We found that if you interfere with the calcium-signaling proteins located at these unusual clusters, you eliminate excitation-transcription coupling, which is critical for learning, memory, and other forms of neuronal plasticity.

The study is expected to open up new avenues of research.

Vierra said,A lot of research has focused on calcium signaling in dendrites the sites where neurons receive signals from other neurons. Calcium signaling in the cell body of neurons has received less attention. Now we understand much more about the significance of signaling at these specific sites on the cell body of the neuron.

Trimmer said,We are only at the beginning of understanding the significance of this signaling, but these new results may provide information that could shape new research into its role in brain function, and perhaps eventually into the development of new classes of therapeutics.

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Study revealed the function of mysterious structure found on neurons - Tech Explorist

Which genes control the defining features that make us look as we do? And how do they make it happen?

In 1990, University of California San Diego biologist William McGinnis conducted a seminal experiment that helped scientists unravel how high-level control genes called Hox genes shape our appearance features. The McGinnis experiment helped pave the way for understanding the role of Hox genes in determining the uniform appearances of species, from humans to chimpanzees to flies.

Drosophila mimica, a rare fruit fly collected from Hawaii Volcanoes National Park.

McGinnis, a professor emeritus of Cell and Developmental Biology and former dean of the Division of Biological Sciences, helped discover a defining DNA region that he termed the homeobox, a sequence within genes that directs anatomical development. Since the now-famous McGinnis experiment, evolutionary and developmental biologists have pondered how these highly influential Hox genes determine the identities of different body regions.

More than three decades later, a study published Nov. 10 as the featured cover in Science Advances and led by Ankush Auradkar, a UC San Diego postdoctoral scholar mentored by coauthor McGinnis and study senior author Ethan Bier, helps answer questions about how Hox genes function.

The now-textbook McGinnis experiment tested whether the proteins produced by a human or mouse Hox gene could function in flies. Following in these footsteps, the new study leveraged modern CRISPR gene editing to investigate whether all aspects of Hox gene function, which consists of both protein coding and control regions, could be replaced in a common laboratory fruit fly (Drosophila melanogaster) with its counterpart from a rarer Hawaiian cousin (Drosophila mimica), which has a very different face.

The gene in question, proboscipedia, would plainly reveal itself since it directs the formation of strikingly different mouth partssmooth and spongy in D. mel but more grill-like (resembling the face of the alien in Predator science fiction films) in D. mim.

Study coauthor Emily Bulger first collected the notoriously difficult-to-breed D. mim samples from Hawaii Volcanoes National Park, along with the only native fruit (Sapindus saponaria - Hawaiian soapberry) that the insects are known to eat, in order to establish a temporary colony in Biers laboratory. Auradkar then collaborated with coauthor Sushil Devkota to decipher the genome sequence of the D. mim proboscipedia gene, which was nearly 44,000 bases long. The researchers then deleted the D. mel proboscipedia gene and replaced it with the D. mim version of the same.

Electron microscopy images contrast the smooth and spongy features of the common Drosophila melanogaster fruit fly (left) and the grill-like features of its rarer cousin, the Hawaiian Drosophila mimica.

As McGinnis had predicted, the new results revealed that the graceful facial structure of D. mel emerged as the winner over the rough features of D. mim. One trait of D. mim, however, did surface during the experiment: Sensory organs called maxillary palps that stick out from the face in D. mel instead ran parallel to feeding mouthparts as they do in D. mim. Auradkar used sophisticated genetic tools to determine the basis for this difference and tracked it down to a change in the pattern by which the proboscipedia gene is activated (control region changes).

The experiments results help answer longstanding questions about whether Hox genes function as master regulatory genes that dictate different body parts in organisms. Or, as McGinnis proposed, whether Hox genes instead provide abstract positional codes and serve as scaffolds for downstream genes that best benefit the organism. Other than the maxillary palps, the new results demonstrated that McGinnis scaffolding idea proved to be the case.

William McGinnis, professor emeritus of Cell and Developmental Biology.

McGinnis says that beyond the implications for evolutionary biology, the results could help explain developmental issues rooted in fundamental human genetic processes.

These fly studies provide a window into deep evolutionary time and inform us about the mechanisms by which body plans change during evolution, said Bier. These insights may lead to a better of understanding of processes tied to congenital birth defects in humans. With the advent of powerful new CRISPR-based genome editing systems for human therapy on the horizon, new strategies might be formulated to mitigate some of the effects of these often debilitating conditions.

According to Bier, these investigations also provide an example of the intimate connection between the support of basic science and human welfare. The research described in the Science Advances paper was supported by a Paul G. Allen Frontiers Group Distinguished Investigators Award, National Institutes of Health grant R01 GM117321 and a gift from the Tata Trusts in India to the Tata Institute for Genetics and SocietyUniversity of California San Diego (TIGS-UC San Diego). The paper was authored by Ankush Auradkar, Emily Bulger, Sushil Devkota, William McGinnis and Ethan Bier.

Competing interest note: Bier has equity interest in two companies he co-founded: Synbal Inc. and Agragene, Inc., which may potentially benefit from the research results. He also serves on Synbals board of directors and the scientific advisory board for both companies.

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New Research Helps Explain the Genetic Basis of Why We Look the Way We Do - UC San Diego Health

Led by Ben Philpot, PhD, and Matt Judson, PhD, the new therapy was generally well-tolerated and prevented key signs of the condition in animal models.

CHAPEL HILL, NC Scientists at the UNC School of Medicine have reported in the journal JCI Insight encouraging early tests of a gene therapy strategy against Angelman syndrome, a neurodevelopmental disorder that features poor muscle control and balance, hard-to-treat epilepsy, and intellectual disabilities.

Angelman syndrome affects roughly one in every 20,000 children, and in the US alone it is thought that there are more than 15,000 people with the condition. There is no specific treatment, but scientists led by Ben Philpot, PhD, Kenan Distinguished Professor of Cell Biology and Physiology at UNC School of Medicine and Associate Director of the UNC Neuroscience Center, previously suggested that the best way to treat the disorder would be to restore function of the UBE3A gene in neurons, which has been lost in the brains of people with Angelman syndrome.

The genetics of Angelman syndrome are more complicated than classic single-gene disorders such as cystic fibrosis and sickle-cell anemia. Humans inherit one maternal and one paternal copy of most genes. Angelman syndrome arises in children whose maternal UBE3A copy has somehow been mutated or deleted. For reasons that arent fully clear, mature neurons normally express only the maternal copy of UBE3A; the paternal copy is effectively silenced. Thus, when the maternal copy is lost, the genes function is absent in neurons. Because UBE3A encodes a protein that helps regulate the levels of other important proteins, its absence severely disrupts brain development.

Compounding the complexity, neurons express two different variants or isoforms of UBE3A that vary slightly in length a short form and a long form in a ratio of about three short forms for every one long form.

Philpots team was able to craft a version of UBE3A that, when expressed by neurons, yields short and long forms of the UBE3A protein at a near-normal ratio. The scientists inserted their therapeutic UBE3A gene into a virus-derived carrier, or vector, engineered for reliable delivery to neurons. They injected a solution of this vector into hollow spaces, called ventricles, in the brains of newborn Angelman syndrome model mice, which lack the maternal copy of the mouse Ube3a gene. Like humans with Angelman syndrome, these mice fail to express UBE3A protein in their neurons and develop motor deficits, seizures, and other neurological symptoms in the first months of life.

Philpot and colleagues verified that vector-borne UBE3A became active in neurons throughout the Angelman model mouse brain just days after injection, at a level similar to that of the normal gene. This treatment restored motor skill-learning and the essential mouse behaviors of digging, burrowing, and nest-building. Untreated mice developed the usual Angelman-like impairments. The treated mice also did not become as susceptible as their untreated counterparts to experimentally induced epileptic seizures, and importantly, did not suffer any obvious negative side effects.

This was a proof-of-concept study, but if these early results were translated to the clinic, they would represent big improvements in the quality of life for individuals with Angelman syndrome, said study lead author Matt Judson, PhD, a research associate in the Philpot Lab, who performed most of the experiments.

The researchers plan to further develop their strategy, first with more tests in mice and monkeys to optimize dose and delivery methods, and ultimately, pending promising safety results, human clinical trials. If such a therapy were available, the researchers expect it might be able to deliver benefits to individuals of any age, but perhaps with varying benefits.

The range from birth to four years is probably ideal, but we think that whenever we can reinstate this genes function in the brain, were likely to see some improvements, Philpot said.

Along with Judson and Philpot, who was recently ranked as the worlds leading Angelman syndrome researcher, the JCI Insight paper was co-authored by Charles Shyng, Jeremy Simon, Courtney Davis, Mattijs Punt, Mirabel Salmon, Noah Miller, Kimberly Ritola, Ype Elgersma, David Amaral, and Steven Gray.

The research was supported by the Angelman Syndrome Foundation, and the National Institutes of Health (R01HD093771, R01MH120229, R01NS114086).

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Gene Therapy Shows Early Promise as Angelman Syndrome Treatment | Newsroom - UNC Health and UNC School of Medicine

The National Institutes of Environmental Health Sciences has selected a study published by Wayne State University School of Medicine researchers as an Extramural Paper of the Month.

The paper, Paternal preconception phthalate exposure alters sperm methylome and embryonic programming, published in in the October issue of the journal Environment International by J. Richard Pilsner, Ph.D., professor and Robert J. Sokol, M.D., Endowed Chair of Molecular Obstetrics and Gynecology, and director of Molecular Genetics and Infertility for the C.S. Mott Center for Human Growth and Development; and Stephen Krawetz, Ph.D., the Charlotte B. Failing Professor of Fetal Therapy and Diagnosis, and associate director of the Mott Center, was selected by the NIEHS as a paper of the month for September.

The Extramural Papers of the Month are selected based on their important findings and potential for public health impact.

The researchers reported that male mice exposed to phthalates before conception had DNA methylation changes in sperm, which can be transferred to the next generation as altered gene expression in embryos. DNA methylation occurs when a chemical compound, called a methyl group, attaches to DNA, affecting whether a gene is turned on or off.

They exposed male mice to either a low or high level of di(2-ethylhexyl) phthalate for two sperm production cycles, or 67 days. Following exposure, they mated the mice with unexposed females. They then assessed genome-wide methylation in sperm, embryos and extra-embryonic tissues, which support the developing embryo.

Compared with unexposed controls, paternal preconception DEHP exposure altered methylation in 704 sperm gene regions, 1,716 embryo gene regions, and 3,181 extra-embryonic gene regions. Of these, 29 gene regions overlapped between sperm and embryonic tissues, suggesting methylation changes related to paternal DEHP exposure may be transmitted to the next generation. The researchers also identified changes in gene expression in embryos in both exposure groups compared with controls. Many of the altered genes were related to pathways important in development.

The researchers said their results indicate that preconception is a sensitive window in which phthalate exposure alters sperm methylation and embryo gene expression in ways that may influence offspring health and development.

Others involved in the research and subsequent publication include Oladele Oluwayiose, a doctoral student at the University of Massachusetts Amherst; Chelsea Marcho, Department of Environmental Health Sciences, University of Massachusetts Amherst; Haotian Wu, Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University; Alexander Suvorov, Department of Environmental Health Sciences, University of Massachusetts Amherst; Emily Houle, Department of Environmental Health Sciences, University of Massachusetts Amherst; and Jesse Mager, Department of Veterinary and Animal Sciences, University of Massachusetts Amherst.

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Report by Mott Center researchers named NIEHS Extramural Paper of the Month - The South End

CAMBRIDGE,Mass., Oct. 20, 2021 (GLOBE NEWSWIRE) -- Editas Medicine, Inc. (Nasdaq: EDIT), a leading genome editing company, today announced that an abstract featuring initial clinical data from the BRILLIANCE clinical trial of EDIT-101 has been selected for an oral presentation at the 2021 European Society of Gene and Cell Therapy (ESGCT) Annual Congress being held virtually October 19 22, 2021. EDIT-101 is under development for the treatment of Leber congenital amaurosis 10 (LCA10), a CEP290-related retinal degenerative disorder.

We are pleased to be working at the forefront of this research with Editas Medicine, evaluating genome editing for the treatment of CEP290-associated retinal disease in the BRILLIANCE trial, said Eric A. Pierce, M.D., Ph.D., Director of the Ocular Genomics Institute and William F. Chatlos Professor of Ophthalmology at Massachusetts Eye and Ear and Harvard Medical School, and the senior BRILLIANCE principal investigator. I am highly encouraged by the early efficacy signals in the mid-dose cohort, which suggest positive biological activity and potential early clinical benefits. I am also very pleased that the initial data from the BRILLIANCE trial demonstrate a favorable safety profile. I believe that the trial data support continued EDIT-101 development as well as the evaluation of gene editing approaches for other inherited retinal disorders.

Details of the Editas Medicine presentation can be accessed on the ESGCT website.

Oral Presentation:Title: BRILLIANCE: A Phase 1/2 single ascending dose study of EDIT-101, an in vivo CRISPR gene editing therapy, in CEP290-related retinal degenerationSession Title: Parallel 4b: Gene editing IIDate and Time: Thursday, October 21, 2021, 10:15 10:30 a.m. CETPresenter: Dr. Eric A. Pierce, M.D., Ph.D., Director of the Inherited Retinal Disorders Service, Director of the Ocular Genomics Institute and William F. Chatlos Professor of Ophthalmology at Massachusetts Eye and Ear and Harvard Medical School, and a BRILLIANCE principal investigator.

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About EDIT-101 EDIT-101 is a CRISPR-based experimental medicine under investigation for the treatment of Leber congenital amaurosis 10 (LCA10), a CEP290-related retinal degenerative disorder. EDIT-101 is administered via a subretinal injection to reach and deliver the gene editing machinery directly to photoreceptor cells.

About BRILLIANCEThe BRILLIANCE Phase 1/2 clinical trial of EDIT-101 for the treatment of Leber congenital amaurosis 10 (LCA10), a CEP290-related retinal degenerative disorder, is designed to assess the safety, tolerability, and efficacy of EDIT-101 in up to 18 patients with this disorder. Clinical trial sites are enrolling up to five cohorts testing up to three dose levels in this open label, multi-center study. Both adult and pediatric patients (3 17 years old) with a range of baseline visual acuity assessments are eligible for enrollment. Patients receive a single administration of EDIT-101 via subretinal injection in one eye. Patients are monitored every three months for a year after dosing and less frequently for an additional two years thereafter. Additional details are available on http://www.clinicaltrials.gov (NCT#03872479).

About Leber Congenital AmaurosisLeber Congenital Amaurosis, or LCA, is a group of inherited retinal degenerative disorders caused by mutations in at least 18 different genes. It is the most common cause of inherited childhood blindness, with an incidence of approximately three per 100,000 live births worldwide. Symptoms of LCA appear within the first years of life, resulting in significant vision loss and potentially blindness. The most common form of the disease, LCA10 or a CEP290-related retinal degenerative disorder, is a monogenic disorder caused by mutations in the CEP290 gene and is the cause of disease in approximately 20-30 percent of all LCA patients.

About Editas MedicineAs a leading genome editing company, Editas Medicine is focused on translating the power and potential of the CRISPR/Cas9 and CRISPR/Cas12a (also known as Cpf1) genome editing systems into a robust pipeline of treatments for people living with serious diseases around the world. Editas Medicine aims to discover, develop, manufacture, and commercialize transformative, durable, precision genomic medicines for a broad class of diseases. For the latest information and scientific presentations, please visit http://www.editasmedicine.com.

Forward-Looking Statements This press release contains forward-looking statements and information within the meaning of The Private Securities Litigation Reform Act of 1995. The words anticipate, believe, continue, could, estimate, expect, intend, may, plan, potential, predict, project, target, should, would, and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. The Company may not actually achieve the plans, intentions, or expectations disclosed in these forward-looking statements, and you should not place undue reliance on these forward-looking statements. Actual results or events could differ materially from the plans, intentions and expectations disclosed in these forward-looking statements as a result of various factors, including: uncertainties inherent in the completion of clinical trials, including the BRILLIANCE trial, and clinical development of the Companys product candidates; availability and timing of results from pre-clinical studies and clinical trials; whether interim results from a clinical trial will be predictive of the final results of the trial or the results of future trials; expectations for regulatory approvals to conduct trials or to market products; and availability of funding sufficient for the Companys foreseeable and unforeseeable operating expenses and capital expenditure requirements. These and other risks are described in greater detail under the caption Risk Factors included in the Companys most recent Annual Report on Form 10-K, which is on file with the Securities and Exchange Commission, as updated by the Companys subsequent filings with the Securities and Exchange Commission, and in other filings that the Company may make with the Securities and Exchange Commission in the future. Any forward-looking statements contained in this press release represent the Companys views only as of the date hereof and should not be relied upon as representing its views as of any subsequent date. Except as required by law, the Company explicitly disclaims any obligation to update any forward-looking statements.

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Clinical Data from Editas Medicines Ongoing Phase 1/2 BRILLIANCE Clinical Trial of EDIT-101 for LCA10 to be Presented at the European Society of Gene...

NEW YORK Delic Labs has entered into a comarketing partnership with GT Research to provide detailed genomic analyses related to commercially interesting traits found in cannabis and psychedelic mushrooms to Canadian producers, its parent company Delic said on Tuesday.

Services provided under the agreement include sample preparation, DNA extraction, whole-genome sequencing, and computational analyses.

Delic Labs, a subsidiary of Delic, focuses on identifying scalable legal psychedelic medicine opportunities. As one of Canada's few licensed psilocybin labs, it applies chemical analytics, metabolomic identification, and process optimization to the psychedelics industry.

GTR performs gene profiling and trait optimization services related to the production of cannabis and psychedelics.

"As the cannabis and psychedelic sectors grow, interest in genomic analysis of the underlying organisms is increasing. GTR is excited to offer its cutting-edge suite of capabilities in partnership with Delic, a pioneer in this space," Sam Proctor, cofounder and CEO of GTR, said in a statement.

"Delic is committed to researching and identifying the safest, highest quality psychedelic compounds for commercial use," said Matt Stang, cofounder and CEO of Delic.

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Delic Partners With GT Research for Genetic Analysis of Cannabis, Psychedelic Mushrooms - GenomeWeb

Published: Oct. 25, 2021 at 7:00 AM EDT

LOWELL, Mass., Oct. 25, 2021 /PRNewswire/ -- Alcyone Therapeutics ("Alcyone"), a biotechnology company developing precision therapies for neurological disorders with high unmet medical needs, today announced four key appointments to its executive leadership team, bringing significant expertise in neuroscience and genetic medicines development. Alcyone Therapeutics appointed Ottavio Vitolo, M.D., M.M.Sc., Chief Medical Officer and Global Head of R&D; Ravi Mehrotra, Ph.D., Chief Financial Officer and Head of Strategy; Susan D'Costa, Ph.D., Executive Vice President & Global Head of Technology; and Rachel Salzman, D.V.M., Executive Vice President of Portfolio, External Affairs & Development.

"I am thrilled to welcome Ottavio, Ravi, Susan and Rachel to Alcyone's executive management team. They are all accomplished leaders who bring diverse and vast expertise in the development of novel treatments for neurological disorders, in particular precision genetic therapies. They also all share the mission to build Alcyone into a premier organization that will bring transformative medicines to patients in need of better treatment options," said PJ Anand, Founder and Chief Executive Officer of Alcyone Therapeutics. "They will be integral to building our future as a leader in the development of central nervous system (CNS) therapies through a uniquely integrated, multi-disciplinary approach, as we leverage our FalconTM precision dosing technology and our multiple genetic therapy platforms."

About Alcyone TherapeuticsAlcyone Therapeutics is a biotechnology company developing precision therapies for neurological disorders with high unmet medical needs. The company integrates innovation in neuroscience, precision dosing platforms and in-house manufacturing capabilities to deliver transformative therapies to patients. Alcyone leverages the synergy between FalconTM, the company's proprietary intrathecal precising dosing platform that incorporates deep knowledge of CSF fluid dynamics, computational modeling and bioengineering, and multiple novel genetic therapy platforms developed at the Abigail Wexner Research Institute at Nationwide Children's Hospital (AWRI). This comprehensive approach allows for the optimization of central nervous system (CNS) dosing and delivery to better target the pathophysiology and anatomy specific to various neurological disease areas. Alcyone's lead programs target the treatment of Rett syndrome and IGHMBP2-Related Diseases (IRD). For more information, visit https://alcyonetx.com/, and follow Alcyone on LinkedIn and Twitter.

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Alcyone Therapeutics Strengthens Executive Team with New Senior Leadership Appointments - WABI