Members Bradley Bernstein, M.D., Ph.D., Paula Cannon, Ph.D., Howard Chang, M.D., Ph.D., and Ahmad (Mo) Khalil, Ph.D., will guide advancement of the company's epigenetic editing platform and key programs

Scientific Advisors join Chroma Founders, Luke Gilbert, Ph.D., Keith Joung M.D., Ph.D., David Liu, Ph.D., Angelo Lombardo, Ph.D., Luigi Naldini, M.D., Ph.D., and Jonathan Weissman, Ph.D., expanding the company's world-class team of leaders in genomic medicine

CAMBRIDGE, Mass., Sept 20, 2022 /PRNewswire/ -- Chroma Medicine, Inc., (Chroma) a genomic medicine company pioneering single-dose epigenetic editing therapeutics, today announced the formation of a Scientific Advisory Board (SAB) comprising renowned leaders in epigenetics, cell and gene therapy, and synthetic biology: Bradley Bernstein, M.D., Ph.D., Paula Cannon, Ph.D., Howard Chang, M.D., Ph.D., and Ahmad (Mo) Khalil, Ph.D. The SAB members will provide key input to Chroma as the company advances its programs addressing a wide range of diseases.

"Each of these distinguished experts will be instrumental as we unlock the potential of epigenetic editing therapeutics," said Catherine Stehman-Breen, M.D., Chief Executive Officer of Chroma Medicine. "We are honored to welcome them to the Chroma team and eager to leverage their expertise as we build the future of genomic medicine."

"The SAB is composed of scientific leaders whose seminal research has significantly advanced the fields of genome editing and cell and gene therapy," said Vic Myer, Ph.D., President and Chief Scientific Officer of Chroma. "They bring a wealth of knowledge and experience to Chroma as we continue to advance our platform with the goal of bringing novel single-dose genomic therapeutics to patients."

Members of the Chroma Scientific Advisory Board include:

About Chroma Medicine

Chroma Medicine is a biotechnology company pioneering a new class of genomic medicines that harness epigenetics, nature's innate mechanism for gene regulation, to deliver single-dose therapeutics for patients with genetically driven diseases. The company was founded by the world's foremost experts in genomic research and is led by a veteran team of industry leaders and scientists with deep experience in genomic medicine, drug discovery, and development. For more information, please visit chromamedicine.com or follow the company on LinkedIn and Twitter.

SOURCE Chroma Medicine

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Chroma Medicine Announces Formation of Scientific Advisory Board of Global Experts in Gene Editing and Cell and Gene Therapy - PR Newswire

Every person is unique, from their fingerprints to their DNA. Why then would a one-size-fits-all treatment program be appropriate for every person with a particular illness or condition?

Thats the basic idea behind the precision medicine, or personalized medicine, movement.

Precision medicine is a means of providing health care tailored to a patients individual characteristics, right down to the genetic level, says Dr. Antony Ruggeri, hematology and oncology physician at Aurora St. Lukes Medical Center.

When devising a targeted treatment, precision medicine considers not only a persons environment and lifestyle, but also their DNA. Each persons DNA is made up of unique gene patterns and variations that control their bodys functions.

In a sense, doctors have been personalizing medicine for years, Dr. Ruggeri says. We might not treat a middle-aged patient the same as an elderly patient. But where precision medicine has more recently taken a monumental step forward is in the use of molecular testing to determine a treatment course based on genetic makeup.

Modern molecular testing allows doctors to sequence, or identify, large portions of a persons DNA and then recommend a specific treatment based on a persons specific genetic variations.

Recent advances in precision medicine have led to powerful changes in disease treatment, particularly in the field of cancer care.

Cancer researchers have found that individual tumors also have unique molecular footprints, explains Dr. Ruggeri. Even among the same type of cancer, the genetic changes driving tumor growth will vary.

By taking a tumor tissue sample and comparing the tumors genetic makeup to those of other tumors recorded in an electronic database, doctors may find a treatment with a history of success against a tumor thats genetically similar.

For example, the American Society of Clinical Oncology Targeted Agent and Profiling Utilization Registry (TAPUR) study now underway at Advocate Aurora Health cancer clinics across Wisconsin is evaluating precision medicine cancer treatments with dozens of anticancer drugs that are already on the market.

The drugs available through the study are all approved by the U.S. Food and Drug Administration (FDA) for the treatment of a type of cancer but havent been FDA-approved to treat each study participants specific type of cancer. Researchers hope the study will help identify new treatments for many different types of advanced cancer.

Want to know more about research at Advocate Aurora Health? Visit aah.org/research.

ASCO, American Society of Clinical Oncology, and TAPUR are trademarks of the American Society of Clinical Oncology, Inc., used with permission.

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What exactly is precision medicine anyway? - health enews

Completing an investigational new drug (IND) application can be a long and tedious process, one known to bog down timelines and frustrate sponsors looking to take their cell or gene therapy (CGT) to the clinic. In a tight race to trials, program sponsors look for efficiencies from bench to bedside.

Using off-the-shelf materialssuch as plasmid DNA products and CRISPR-associated nucleases is one way to potentially speed things up particularly if they come with a drug master file, or DMF.

Drug master files are reference packages that report to the FDA information about the processes involved in new drug products. Theyre not FDA-required nor approved nor denied but they can help supplement INDs and other applications as a way to cross-reference new processes with pre-filed submissions.

And as a concept, DMFs arent new. Download the DMF list and youll see tens of thousands of submissions, some dating to 1939. Theyve always been used to support various materials, even ibuprofen and acetaminophen. But as normalized as theyve become, DMFs are still novel among CGTs, which only recently began using off-the-shelf materials that would benefit from a DMF.

With the growing standardization of cell and gene therapies, interest has emerged in DMFs as a tool to expedite the path to clinical trials. If you use an off-the-shelf reagent that has a DMF, the application links to that preexisting file without the filer having to provide redundant information.

As more off-the-shelf materials such as plasmids become available for cell and gene therapies, suppliers are submitting DMFs for those products as a benefit to customers. Doing so gives researchers a dual offering: They can not only access standardized materials at GMP-grade with the cost and time savings that come with that but they can also cross-reference their INDs to the already prepared DMF.

Two examples of these DMF-ready products are Aldevrons SpyFi Cas9 nuclease and pALD-X80 helper plasmid, each available from research grade to GMP. When new cell and gene therapy products use these materials, users automatically get the benefit of a pre-filed DMF that references Aldevrons manufacturing processes involved in making them.

The reason IND submissions have long embraced DMFs is the same reason DMFs are likely to rapidly expand among CGT applications in the months and years ahead: Theyre not just efficient in saving time, but theyre also potentially more comprehensive with less of a risk of missed information.

If you use the SpyFi Cas9 nuclease, for example, or others offered from Aldevron, you can skip the drug substance part for the Cas9 product when filing the IND because Aldevron has already prepared the DMF.

And when linking to the DMF, the FDA gets complete access to manufacturing information without the filer having to do so. This avoids overlooking information the FDA might need, which can delay application review.

Moreover, translational medicine organizations may find particular value in DMF-ready products because they overcome resource barriers inherent to hospitals and academic institutions. Unlike big pharma or biotech companies, many such organizations may not have easy access to field experts. Turning to DMFs gives academic outfits the economies of scale they might not get otherwise.

By 2025 thats just two years away the FDA expects to approve up to 20 cell and gene therapy products per year. With all that IND activity in a crowded market, sponsors will need any differentiating efficiency they can get along the pathway to clinical trials and beyond.

By taking advantage of pre-filed DMFs, researchers benefit from the value, time savings and reduced complexities of having someone else do the heavy lifting for key components of the final drug product. After all, this concept isnt new in drug development. However, the science in this so-called new frontier of medicine is. As it becomes more standardized, everyone wins including future patients.

Looking for other ways to standardize processes and accelerate your path to market? Stay tuned for Aldevrons next post, where well explore how plasmid backbones can simplify development logistics and reach your goals faster.

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Expediting IND applications with drug master files - BioPharma Dive

BOSTON, Sept. 22, 2022 (GLOBE NEWSWIRE) -- Decibel Therapeutics DBTX, a clinical-stage biotechnology company dedicated to discovering and developing transformative treatments to restore and improve hearing and balance, today announced that Laurence Reid, Ph.D., Chief Executive Officer, will participate in a fireside chat at the Jefferies Cell and Genetic Medicine Summit on Friday, September 30, 2022, at 10:00 a.m. ET in New York, NY.

A live webcast of the fireside chat may be accessed by visiting the Investors section of the Decibel Therapeutics website at https://ir.decibeltx.com. An archived replay of the webcast will be available on the Company's website for approximately 90 days following the fireside chat.

About Decibel Therapeutics

Decibel Therapeutics is a clinical-stage biotechnology company dedicated to discovering and developing transformative treatments to restore and improve hearing and balance, one of the largest areas of unmet need in medicine. Decibel has built a proprietary platform that integrates single-cell genomics and bioinformatic analyses, precision gene therapy technologies and expertise in inner ear biology. Decibel is leveraging its platform to advance gene therapies designed to selectively replace genes for the treatment of congenital, monogenic hearing loss and to regenerate inner ear hair cells for the treatment of acquired hearing and balance disorders. Decibel's pipeline, including its lead gene therapy program, DB-OTO, to treat congenital, monogenic hearing loss, is designed to deliver on our vision of a world in which the privileges of hearing and balance are available to all. For more information about Decibel Therapeutics, please visit http://www.decibeltx.com or follow us on Twitter.

Investor Contact:Julie SeidelStern Investor Relations, Inc.julie.seidel@sternir.com212-362-1200

Media Contact:Chris RaileyTen Bridge CommunicationsChris@tenbridgecommunications.com617-834-0936

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Decibel Therapeutics to Participate in the Jefferies Cell and Genetic Medicine Summit - Decibel Therapeut - Benzinga

Weill Cornell Medicine investigators have identified definitive biological links between African ancestry and disease processes that affect an aggressive cancer type called triple-negative breast cancer (TNBC). Their analysis of TNBC tumors from a diverse patient population yielded a large set of genes whose expression differed in patients with African ancestry compared with patients with European ancestry.

In the study, published Sept. 19 in Cancer Discovery, a journal of the American Association for Cancer Research, the scientists identify the expression of 613 genes associated with African ancestry and more than 2,000 genes associated with regional African ancestry in patients with TNBC. They also describe distinct patterns of immune responses in patients of African descent that may explain patterns of disease progression and outcomes. Together, these findings provide a foundation for future research into better treatment options for this cancer, which has the worst survival outcomes of all breast cancer types.

Many people are not aware of the geographic origins of their ancestors nor how much of their DNA was inherited from each source, known as genetic ancestry. Previous studies of racial differences in TNBC analyzed data from African American patients and relied on self-reported race, said senior author Dr. Melissa B. Davis, associate professor of cell and developmental biology research in surgery and director of health equity in the Englander Institute for Precision Medicine at Weill Cornell Medicine. Our study is the first to determine each individuals ancestry not only by African descent but also by specific regions within Africa.

TNBC tumor cells have no estrogen or progesterone receptors and scant amounts of HER2/neu protein on their surface, making them challenging to treat as they dont respond to hormone therapies or anti-HER2 drugs that block cell proliferation. The subtype represents about 33 percent of breast cancer diagnoses in African countries compared with less than 20 percent in other nations. African American women have twice the risk of developing TNBC and a higher risk of mortality than white Americans of European ancestry.

For their current study, the investigators performed ancestry estimation on breast tissue samples from 132 patients and RNA sequencing on a subset of 26 cases provided by the Englander Institute of Precision Medicine at Weill Cornell Medicine; the University of Alabama at Birmingham; and The International Center for the Study of Breast Cancer Subtypes (ICSBCS), now headquartered at Weill Cornell Medicine. The ICSBCS was established in 2004 and features partners across different regions of Africa as well as the Caribbean and Central America. This study drew samples from ICSBCS founding member The Komfo Anokye Teaching Hospital (KATH) in Kumasi, Ghana, as well as the Millennium Medical College St. Pauls Hospital in Addis Ababa, Ethiopia.

After identifying the expression of genes associated with African ancestry at the country and regional levels, the researchers examined the affected biological pathways and estimated proportions of immune cells in tumors. They discovered that women with TNBC with a high degree of African ancestry, primarily East Africans from Ethiopia, had significantly higher immune cell populations infiltrating tumors, than women with a lower degree of African ancestry who were mainly African Americans and West Africans from Ghana. Increased immune responses in TNBC tumors in women of regional African descent will be particularly interesting to researchers studying the benefits of immunotherapies, said lead author Dr. Rachel Martini, a postdoctoral associate in surgery at Weill Cornell Medicine.

This recent discovery gives us hope that we will continue to find answers and contribute to solutions for a disease which has long afflicted all ancestries, but shows greater burden in Africa, said Dr. Ernest Adjei, consulting pathologist at KATH. The ICSBCS provides a great platform for strong research collaborations into the future as we work together for improved outcomes in breast cancer management.

The investigators also found that several African ancestry-associated genes detected in normal breast tissue switched expressions in tumor tissue. These findings suggest that some ancestry-specific differences in gene expression may be in response to malignancies, said Dr. Martini.

Finally, the researchers examined the data by self-reported race and found some of the same pathways they had associated with ancestry. However, they also found others imprinted on tumors relating to diabetes and obesity that were not associated with ancestry. This finding suggests its essential to look at both race and ancestry when exploring disparities in TNBC development and outcomes, said Dr. Davis, who is an ethnicity scholar at the New York Genome Center and also serves as scientific director of ICSBCS. For example, we could potentially harness aspects of the diabetes or obesity pathways in tumors as targets to treat cancer patients with comorbidities.

The teams most recent findings add to a robust legacy of studies utilizing the ICSBCS biorepository that are clarifying the role of genetic ancestry related to breast cancer risk, added co-author Dr. Lisa Newman, chief of the Section of Breast Surgery at Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center, professor of surgery at Weill Cornell Medicine and ICSBCS medical director and founder.

The investigators are now looking more deeply at gene expression differences to determine the master regulators of the pathways they identified and performing single cell analysis to learn more about the tumor microenvironment. We want to get to the bottom of the molecular features driving disparities in TNBC before we move our work into the clinical space, Dr. Davis said.

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Biological Links Identified Between an Aggressive Breast Cancer Type and African Ancestry - Weill Cornell Medicine Newsroom

Artificial intelligence (AI) and big data are transforming healthcare with high-throughput analyses of complex diseases. Machine learning and sophisticated computational methods can be used to efficiently interpret human genomes and other biomarkers, providing insights for patient treatment and with major applications in diagnostics and preventive care.

A personalised treatment plan may include preventive care for diseases that are at a higher risk of developing, for example increased screening for cancer if a patient possesses the BRCA 1 or BRCA 2 gene mutation. Additionally, AI can generate insights from genetic information, biomarkers, and other physiological data to predict how a patient will respond to different treatment options, which may help avoid adverse reactions, reduce the use of expensive or unnecessary treatments on patients that are unlikely to respond, and ultimately reduce hospitalisation and outpatient costs. For more information, GlobalDatas latest report, Precision and Personalized Medicine Thematic Research, provides insight into the most prevalent uses of personalised medicine, new applications, and the healthcare, macroeconomic, and technology themes driving growth.

Big data and bioinformatics can also offer human-centred data to be used for early drug research in lieu of, or in combination with, conventional methods like cell or animal models. This could help streamline the drug discovery process by reducing the time and money spent on inviable drug candidates, especially for conditions that translate poorly between animal models and humans. For example, laboratory mice have historically been utilised in early phase drug trials but are a poor model for genetic diversity and age-related diseases in humans. So, treatments for neurodegenerative and other age-related conditions could greatly benefit from the inclusion of human genetics in research and development (R&D).

The field of oncology has been the most accepting of personalised medicine, though other areas of medicine could greatly benefit from this medical model. Still, major barriers to commercialisation and access are funding and reimbursement. Stockholders want to invest in therapies that have a large patient pool and payers are hesitant to reimburse patients for novel diagnostic tests and treatments that lack the positive clinical data of traditional one-size-fits-all approaches. However, we could see interest in the sector resurge as increasing market competition and advances in technology rapidly drive down the cost of genetic sequencing. Physiological data is also more comprehensive and accessible than ever due to the recent growth of remote patient monitoring devices and wearable tech from the Covid-19 pandemic.

Furthermore, companies are collaborating to reduce development costs and share patient data for research. Recently, Valo Health Inc., a medical technology company, and Kahn-Sagol-Maccabi (KSM), a research and innovation center, announced they will perform joint studies utilising KSMs Tipa Biobank of more than 800,000 samples and Valos drug discovery and development platform Opal. The Tipa Biobank stores live samples, with plans to continue collecting genetic samples from the same subjects over their respective lifetimes. The collaboration provides an opportunity to utilise the growing patient data sector to capitalise on the race to get AI-designed drugs to market and could give Valo/KSM a competitive edge for developing treatments in oncology and for neurodegenerative diseases. Industry collaborations between big market players may also reassure healthcare payers that personalised technology is worth the investment, improving funding and patient identification for new trials and treatments.

Genetic and physiological data can help paint a clearer picture of overall patient health, and it is expected that the demand for preventive medicine will continue increasing as people live longer and the global elderly population grows. Looking to the future, precision and personalised medicine has the potential to expedite drug discovery, improve disease screening, and predict patient responses to treatment options, leading to improved quality of care and reduced overall healthcare costs.

Precision Micro, Small and Lead Frame / Insert Injection-Molded Plastic Components

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Personalised medicine and the advantages of big data and AI-based diagnostics - Medical Device Network

CAMBRIDGE, Mass., Sept. 22, 2022 (GLOBE NEWSWIRE) -- Verve Therapeutics, a clinical-stage biotechnology company pioneering a new approach to the care of cardiovascular disease with single-course gene editing medicines, today announced that management will participate in the following upcoming investor conferences:

Live webcasts will be available in the investor section of the company's website at http://www.vervetx.com and will be archived for 60 days following the presentations.

About Verve Therapeutics Verve Therapeutics, Inc. (Nasdaq: VERV) is a clinical-stage genetic medicines company pioneering a new approach to the care of cardiovascular disease, potentially transforming treatment from chronic management to single-course gene editing medicines. The companys initial two programs VERVE-101 and VERVE-201 target genes that have been extensively validated as targets for lowering low-density lipoprotein cholesterol (LDL-C), a root cause of cardiovascular disease, in order to durably reduce blood LDL-C levels. VERVE-101 is designed to permanently turn off thePCSK9gene in the liver and is being developed initially for heterozygous familial hypercholesterolemia (HeFH) and ultimately to treat atherosclerotic cardiovascular disease (ASCVD) not at goal on oral therapy. VERVE-201 is designed to permanently turn off theANGPTL3gene in the liver and is initially being developed in homozygous familial hypercholesterolemia (HoFH) and ultimately in patients with ASCVD who have not achieved goal LDL-C with oral therapy and a PCSK9 inhibitor. For more information, please visit http://www.VerveTx.com.

Investor ContactJen RobinsonVerve Therapeutics, Inc.jrobinson@vervetx.com

Media ContactAshlea Kosikowski1ABashlea@1abmedia.com

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Verve Therapeutics to Participate in Upcoming Investor Conferences - GlobeNewswire

Abhinav Achreja, PhD, Research Fellow at the University of Michigan Biomedical Engineering and Deepak Nagrath, Ph.D. Associate Professor of Biomedical Engineering work on ovarian cancer cell research in the bio-engineering lab at the North Campus Research Center (NCRC). Image credit: Marcin Szczepanski, Michigan Engineering

The way that tumor cells enable their uncontrolled growth is also a weakness that can be harnessed to treat cancer, researchers at the University of Michigan and Indiana University have shown.

Their machine-learning algorithm can identify backup genes that only tumor cells are using so that drugs can target cancer precisely.

Most cancer drugs affect normal tissues and cells. However, our strategy allows specific targeting of cancer cells.

The team demonstrated this new precision medicine approach treating ovarian cancer in mice. Moreover, the cellular behavior that exposes these vulnerabilities is common across most forms of cancer, meaning the algorithms could provide better treatment plans for a host of malignancies.

This could revolutionize the precision medicine field because the drug targeting will only affect and kill cancer cells and spare the normal cells, said Deepak Nagrath, a U-M associate professor of biomedical engineering and senior author of the study in Nature Metabolism. Most cancer drugs affect normal tissues and cells. However, our strategy allows specific targeting of cancer cells.

This approach is known as collateral lethalityusing information gleaned from genes that cancer cells discard to find weaknesses. The human body comes with many mechanisms designed to protect against cancer. Cancer cells themselves used to contain suppressor genes that prevent their spread. Those cells however, have a clever strategy for dealing with that; they simply delete a portion of their DNAthe part that includes those suppressor genes.

In doing so, the cells typically lose other genes that are necessary for survival. To avoid death, the cells find a paraloga gene that can serve a similar function. Usually there are one or, possibly, two genes that can step in and perform the same function to keep the cell alive.

What if you could identify the right paralog and target it in a way that shuts down its vital function for the cell?

When a direct replacement for the deleted metabolic gene is not available, our algorithms use a mathematical model of the cancer cells metabolism to predict the paralogous metabolic pathway they might use, said Abhinav Achreja, a U-M research fellow in biomedical engineering and lead author on the research paper. These metabolic pathways are important to the cancer cells and can be targeted selectively.

Study abstract: Metabolic collateral lethal target identification reveals MTHFD2 paralog dependency in ovarian cancer (DOI: 10.1038/s42255-022-00636-3)

Attacking metabolic pathways essentially shuts down the cells energy source. In examining ovarian cancer cells, U-Ms team zeroed in on one gene, UQCR11, that was often deleted along with a suppressor gene. UQCR11 plays a vital role in cell respirationhow cells break down glucose for energy in order to survive.

Disturbances in this process can lead to a major imbalance of an important metabolite, NAD+, in the mitochondria, where respiration takes place. Despite all odds, ovarian cancer cells continue to thrive by relying on their backup plan.

U-Ms algorithm correctly sorted through multiple options and successfully predicted a cell missing UQCR11 would turn to the gene MTHFD2 as its backup supplier of NAD+.

Researchers at the Indiana University School of Medicine helped validate the findings in the lab. This team, led by professor of medicine Xiongbin Lu, developed genetically modified cell and animal models of ovarian cancers with the deletions. Six out of six mice tested showed complete cancer remission.

This research was supported by funding from the National Cancer Institute, Office of the Director for the National Institutes of Health, University of Michigan Precision Health Scholars Award, and Forbes Scholar Award from Forbes Institute of Cancer Discovery.

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Shutting down backup genes leads to cancer remission in mice - University of Michigan News

When we are physically active our bones and muscles work together to make them stronger. To maintain bone health, the American College of Sports Medicine recommends a combination of weight-bearing activities 35 times per week and resistance exercise 23 times a week.

Research has shown lifelong exercise to be beneficial for preserving bone health, and a reduction in physical exercise results in bone loss. The CDC advocates regular physical activity to strengthen and maintain muscle and bone, research has shown improving muscle strength can have a moderate effect in relieving joint pain for people with osteoarthritis.

Despite its benefits, modern-day living is associated with a lack of physical activity. According to the World Health Organization, physical inactivity is a serious but insufficiently addressed public health problem with up to 85% of the worlds population leading a sedentary lifestyle.

Inactivity is also associated with an increased risk of chronic disease. The British Heart Foundation attributes more than 5 million deaths worldwide to physical inactivity, which equates to one in nine deaths overall.

Chronic conditions, injury, and aging may mean it is more difficult to undertake physical activity, which can lead to muscle weakening (sarcopenia) and bone loss (osteoporosis).

New research undertaken at Tokyo Medical and Dental University (TMDU) has identified a new drug that can mimic exercise, and promote similar changes in muscle and bone.

The work, led by Professor Tomoki Nakashima, has been published in Bone Research.

In the study, the research team identified a new compound called Locamidazole (LAMZ) as a potential therapeutic drug that can cause similar effects to exercise.

To test the new compound, the researchers administered either 10mg/kg of LAMZ orally once daily, 6mg/kg LAMZ by injection twice daily, or a control solution for 14 days to male mice.

Administration of LAMZ orally and by injection showed changes in both muscle and bone. Researchers noted that the treated mice had wider muscle fibers and increased muscle strength when compared to the non-LAMZ-treated mice.

Endurance was studied using a treadmill device, the LAMZ-treated mice were less fatigued and traveled a longer distance than the non-treated mice.

In an interview with Medical News Today, Dr. Joseph Watso, assistant professor at Florida State University, who was not involved in the study, explained:

It is thought-provoking that while the changes in distance traveled by the animals were small (around 2%), the increases in adjusted maximal muscle strength and muscle fiber width were quite substantial after 14 days of LAMZ administration.

Using gene analysis, the researchers showed that LAMZ increased the number of mitochondriathe powerhouse of the cellin muscle and bone cells. They noted an increase in the expression of the gene for the PGC-1 alpha, a protein known to maintain muscle and bone cells and increase the production of mitochondria.

PCG1a is a known transcriptional coactivator that increases mitochondrial biogenesis. This is an interesting feature of the agent they identified as mitochondrial biogenesis is a hallmark physiological adaption of exercise training, Dr. Watso explained to MNT.

To understand the pathway further, the researchers orally administered LAMZ to mice whilst blocking PGC-1 alpha. They found no increase in muscle strength, indicating the effects of LAMZ on muscle and bone through PGC-1 alpha.

3D images of bone samples generated using Micro-CT showed an increase in bone thickness, density, and bone mineral content, confirming the cell study findings of increased formation and a reduction of bone loss.

We were pleased to find that LAMZ-treated mice exhibited larger muscle fiber width, greater maximal muscle strength, a higher rate of bone formation, and lower bone resorption activity, the studys lead author Takehito Ono commented.

The study has shown that LAMZ can reinforce bone and muscle with no negative effects on surrounding tissues, and can function as a therapeutic drug by reinvigorating muscle and bone via PGC- 1, mimicking physical exercise.

Dr. Watso summarized the findings:

The article provides convincing evidence in animals for an agent with a high potential to improve bone and muscle health. Like most agents evaluated in animals, the key next question is whether those findings will translate to humans. Of course, without any harmful side effects that may not have been observed in the animal studies.

He cautioned that it will be an arduous task to develop one elixir of health to replace the innumerable benefits of regular physical activity and exercise. That said, continued efforts are needed to reduce the incidence of, and burden associated with, preventable diseases.

In certain cases, medication may be the safer option than exercise, but where possible, exercise should be the first consideration for those who have the capability to be physically active, said Dr. Watso.

Despite this, it is certainly worthwhile to continue to examine population-specific risk factors and pathophysiology for potential treatment targets, he added.

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Could a pill to strengthen muscle and bone replace exercise? - Medical News Today

We can now screen for over 500 different types of [disorders] depending on the company or test you are using, says Dr. Keegan. This gives us the opportunity to prevent the transmission of inherited genetic disorders through the technology available and a simple blood test.

The ACOG recommends considering family history and ethnicity, in addition to the most common genetic conditions, when deciding which mutations to include. Parents may also benefit from genetic counseling, which is a service that helps people understand the results of their tests and make informed decisions throughout the process.

Here are some of the most common conditions identified through genetic carrier screening:

There are currently almost 40,000 children and adults living with cystic fibrosis in the U.S. Cystic fibrosis is a disease that affects the lungs, pancreas and other organs. People who have cystic fibrosis have difficulties breathing. The mutation involved with cystic fibrosis causes a protein to not function correctly, which then causes mucus buildup in multiple organs throughout the body.

About 1 in 7,000 males and about 1 in 11,000 females have fragile X syndrome, the most common cause of inherited intellectual disability. Fragile X is associated with lower than average IQ, developmental delays and other co-occurring health conditions including seizures, autism, hyperactivity, attention difficulties and more.

One in every 6,000 babies is born with spinal muscular atrophy, or SMA, which is a group of genetic disorders that cause a weakening of the muscles. Symptoms may vary, but people with SMA may require physical and occupational therapy, support devices such as wheelchairs or assistance with breathing. Symptoms generally worsen over time and there is no cure.

Although anyone can be a carrier, Tay-Sachs disease is more common for people of Ashkenazi Jewish ancestry, as one in every 27 members of the population is a carrier for the disease. Symptoms may include deafness, blindness, seizures, decreased muscle tone, dementia and others.

It is estimated that approximately 100,000 people in the U.S. have sickle cell disease. This inherited condition is most common in Black or African American people but can affect any race. Sickle cell disease includes a group of red blood cell disorders that can cause acute chest syndrome, anemia, blood clots or infections.

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Genetic Testing Before Pregnancy: What You Need To Know - Forbes

This week, researchers delivered insights and breakthroughs in regenerative medicine, Long COVID, immuno-oncology and inflammatory diseases.

Epigenetic Treatment Shows Potential in Spinal Cord Regeneration

Researchers reported that activation of the CBP/p300 protein family led to increased axon growth, regenerative signaling and synaptic plasticity in the spinal cord after injury in mice.

The study, led by Imperial College London,used a molecule called TTK21 to activate the genetic program to induce axon regeneration in neurons. During this process, TTK21 changes the epigenetic state by activating the CBP/p300 family of co-activator proteins, effectively leading to increased axon regeneration.

In the study, researchers began treating the mice 12 weeks after severe spinal cord injury and continued for 10 weeks. They found axon sprouting in the spinal cord and retraction of motor neurons above the injury. These changes are believed to have been spurred by increased gene expression related to regeneration, which the researchers attributed to the TTK21 treatment.

The results, while early and limited, are a step toward potential treatments for spinal cord injury.

The next steps will be to enhance the effects of the treatments and trigger the regenerated axons to connect to the rest of the nervous system. The ultimate goal is to enable animals, and eventually people, to regain movement lost from their injuries.

Neurological Consequences Evident in Long-Term COVID Study

In a recent attempt to decode the long-term impacts of COVID-19, researchers built a dataset fromthe national healthcare databases of the US Department of Veterans Affairs.

The study,led by the Clinical Epidemiology Center, Research and Development Service at VA St. Louis Health Care System,included154,068 individuals with COVID-19, 5,638,795 contemporary controls and 5,859,621 historical controls.

Results were published Thursday in Nature Medicine.

Upon examination of the data sets, the researchers noted an increased risk in a series of neurological consequences. These included: ischemic and hemorrhagic strokes, episodic disorders, extrapyramidal and movement disorders, mental health disorders, musculoskeletal disorders, sensory disorders, Guillain-Barr syndrome and encephalitis or encephalopathy.

They estimated a hazard ratio of 1.42 neurological sequelae per thousand COVID-19 cases, and 70.69 burdens per 1,000 cases.

These numbers were not impacted by the severity of the infection or the need for hospitalization. The researchers note the sample set comprised a majority of white men, so further exploration into other demographic groups may be necessary for future studies.

Novo Nordisk and Octagon Unite on Inflammatory R&D

Octagon Therapeutics, a pre-clinical biopharmaceutical focused on autoimmune disease, announced the initiation of a multi-year research collaboration with Novo Nordiskto studypotential treatments for inflammatory diseases.

Octagon will bring its functional target discovery approach and novel chemistry approach, while Novo will contribute its specific disease expertise.

Uli Stilz, vice president of the Bio-Innovation Hub at Novo Nordisk, commented on the synergies.

Combined with our disease understanding in the cardiometabolic space and Octagons approach in targeting specific lymphocyte populations that drive disease progression, it will be exciting to see what therapeutic discoveries the collaboration can lead to, he said.

Regen's RNA/DNA-Based Cancer Immunotherapy

Regen BioPharmaannounced the filing of a provisional patent application for its RNA/DNA-based approach to cancer immunotherapy.

The patent pertains to what Regen believes is the first combination of an immunotherapy and a gene silencing agent in a single drug.

The novel composition acts as a checkpoint inhibitor drug that also silences the genes that regulate T-cells and cancer cells such as NR2F6 and Survivin.

The new drug takes advantage of aptamers - a short RNA or DNA sequence that can also function as an antibody, recognizing specific proteins and binding to them. The proprietary sequence codes for inhibitory RNA, while keeping the aptamer intact on the other side. When it binds to a checkpoint such as PD-1, that RNA is converted within the cell, thus killing it.

Used to target cancer cells, this could lead to better disease control and treatment. There is also hope that this process could be used to activate T cells, improving their immunotherapeutic potential.

Toronto-Based Researchers Uncover Potential Solve for CAR T Toxicities

Allogeneic double-negative (DN) chimeric antigen receptor (CAR)-T cells inhibit tumor growth without off-tumor toxicities, a new study found.

Current CAR-T therapies approved by the FDA in treating blood cancers are limited by their level of toxicity and cost of production. Researchers from the Toronto General Hospital Research Institute, University Health Network, reported a new version of these therapies that did not have these drawbacks.

The researchers found healthy donor-derived allogeneic DNTs as a CAR-T cell therapy platform had high levels of efficacy in both the human and mouse models.

The researchers found the DN CAR-T cells were as effective as previously studied CAR-T cells but did not have the associated toxicity levels. They also come with the advantage of being made from mixed donors and remained effective even after being frozen for long periods of time. This feature could potentially overcome manufacturing challenges in the space.

The authors noted these features make DN CAR-T cellsan attractive off-the-shelf CAR-T cell therapy option.

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Research Roundup: Regenerative Potential, Long COVID Insights, Immuno-Oncology and More - BioSpace

The past decade has witnessed a rapid expansion of genetic tests, including new instruments to inform patients who have been diagnosed with breast cancer about the risk of recurrence and to guide their treatment.

But the clinical significance of many of the inherited mutations that can now be identified remains unclear, and experts are torn on when and how to deploy all the new tests available. Patients are sometimes left paying out-of-pocket for exams that are not yet the standard of care, and even the most up-to-date oncologists may be uncertain how to incorporate the flood of new information into what used to be standard treatment protocols.

A quarter-century ago, Myriad Genetics introduced the first breast cancer genetic test for BRCA mutations, two genes associated with a substantially elevated risk of getting breast cancer, opening the door to a new era in genetic testing. BRCA1 and BRCA2 mutations account for as many as half of all hereditary breast cancers, and people with a problematic mutation on one of those genes have a 45% to 72% chance of developing breast cancer during their lifetimes. They may also be at higher risk for ovarian and other cancers than people without harmful BRCA mutations.

But the clinical significance is murkier for many other genetic tests.

Testing for BRCA1 and BRCA2 genes used to cost thousands of dollars. Now, for a fraction of that, doctors can order multi-gene test panels from commercial labs that look for mutations in dozens of genes. Some direct-to-consumer companies offer screening panels for a few hundred dollars, though their reliability varies.

When Jen Carbary was diagnosed with breast cancer in 2017 at age 44, genetic testing identified a mutation in a gene called PALB2 that significantly increases the risk of developing breast cancer. Guidelines suggest that breast cancer patients with a PALB2 mutation, much like those with BRCA1 and BRCA2 mutations, consider having a mastectomy to reduce the chance of a breast cancer recurrence.

"I wish genetic testing was the standard of care," said Carbary, who owed nothing for the test because her insurer covered the cost.

Carbary, who lives in Sterling Heights, Michigan, said the test results affirmed the decision she had already made to have a double mastectomy and provided important information for family members, including her 21-year-old daughter and 18-year-old son, who will likely be tested in their mid-20s or early 30s.

But some breast cancer experts are concerned that widespread testing may also identify genetic mutations whose impact is unclear, creating anxiety and leading to further testing and to treatment of questionable value that could raise costs for the health care system.

It can also confuse patients.

"It happens a lot, that patients find their way to us after getting confusing results elsewhere," said Dr. Mark Robson, chief of the breast medicine service at Memorial Sloan Kettering Cancer Center in New York City. Robson said the cancer center has a clinical genetics service, staffed by doctors and genetic counselors, that helps people make decisions about how to manage genetic testing results.

For people diagnosed with breast cancer, many professional groups, including the influential National Comprehensive Cancer Network, or NCCN, recommend limiting testing to certain people, including those with high-risk factors, such as a family history of breast cancer; those who are 45 or younger when they're diagnosed; and those with Ashkenazi Jewish ancestry.

But in 2019, the American Society of Breast Surgeons recommended a different approach: Offer genetic testing to all patients who are diagnosed with or have a personal history of breast cancer. The recommendation was controversial.

"The NCCN guidelines [cover] most of the women who needed testing, but we wanted to get them all," said Dr. Eric Manahan, a general surgeon in Dalton, Georgia, and a member of the surgeons group's board of directors.

Mutations on other genes that are associated with breast cancer are much less common than BRCA1 and BRCA2 mutations and generally don't increase the risk of developing breast cancer as much. The cancer-causing impact of these genes may be less clear than that of the BRCA genes, which have been tested for since the mid-1990s.

And the appropriate response to the less common mutations whether to consider a risk-reducing mastectomy or stepped-up screening is often unclear.

"Things get sloppier and sloppier when you look at other genes," said Dr. Steven Katz, a professor of medicine and health management and policy at the University of Michigan. "The risks tend to be lower for different cancers, and less certain and more variable. You might walk away wondering, 'Why'd I have to know that?'"

After people are diagnosed with breast cancer, genetic testing can help inform their decisions about the types of surgery to pursue for example, a high risk of recurrence or a new breast cancer might persuade some to opt for more extensive surgery, such as a double mastectomy. Testing can also provide important information to family members about their potential cancer risk.

(This type of "germline" genetic testing, as it's called, looks at mutations in the genes that people inherit from their parents. It is different from genomic tumor tests that look at specific genes or proteins in the cancer cells and can help doctors understand the rate at which the cancer cells are dividing, for example, and the likelihood of a cancer recurrence.)

Increasingly, germline genetic testing can also help guide other treatment decisions. Some patients with metastatic breast cancer who have BRCA1 or BRCA2 mutations may be good candidates for PARP inhibitors, cancer drugs that target tumors with mutations in those genes.

But genetic testing that uncovers inherited mutations in many other genes yields less clearly actionable information, even though positive results may alarm people.

At Memorial Sloan Kettering, cancer specialists focus on "therapeutic actionability," said Robson. Will testing help someone decide whether she should get a double mastectomy or provide other important guidance? "A policy of testing everyone will identify very few additional BRCA breast mutations but will cost a lot," he said.

As a result, doctors are debating how best to deploy and incorporate new genetic knowledge. Insurers are trying to figure out which to pay for.

There is both underuse of tests that science says are relevant and overuse of tests that experts say provide information that can't be interpreted with any scientific certainty.

The result may be confusion for patients newly diagnosed with breast cancer as they confront the expense of genetic tests and sometimes little guidance on the proper treatment.

Some doctors say the first step is to make sure that the small group of people who would clearly benefit are getting the genetic tests whose meaning is clearly understood. Only 15% of breast cancer patients who met select NCCN testing guidelines for inherited cancer received genetic testing, according to a 2017 study that examined data from a national household health survey between 2005 and 2015.

"I would argue that our focus needs to be on the people who are at high risk for breast cancer that aren't even identified yet," said Dr. Tuya Pal, associate director for cancer health disparities at Vanderbilt-Ingram Cancer Center and vice chair of the NCCN guidelines panel for genetic/familial high-risk assessment of breast, ovarian, and pancreatic cancers.

Patients may fall through the cracks because no one tells them they should be tested. In one analysis, 56% of high-risk breast cancer patients who didn't get genetic testing said their doctors didn't recommend it.

Even if doctors recommend genetic testing, they may lack the expertise to determine which tests people need and how to interpret the results. That's the role of genetic counselors, but their ranks are stretched thin.

The consequences can be serious. In a study of 666 breast cancer patients who received genetic testing, half of those at average risk for inherited cancer got double mastectomies based on test results that found "variants of uncertain significance," which aren't clinically actionable. As many as half of surgeons reported managing such patients the same way as those with cancer-causing mutations.

"The bulk of our research would say that there is still room for improvement in terms of clinicians getting the understanding they need," said Dr. Allison Kurian, director of the women's clinical cancer genetics program at Stanford University and a co-author of the study.

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Genetic Tests Create Opportunities and Confusion for BRCA Patients - Medscape

The dynamics of the cell and gene therapies market in rare disorders are anticipated to change as companies across the globe are thoroughly working toward developing new therapeutic options to treat a wide array of indications.

LAS VEGAS, May 9, 2023 /PRNewswire/ --DelveInsight's Cell and Gene Therapies in Rare Disorders Market Insights report includes a comprehensive understanding of current treatment practices, emerging cell and gene therapies for various rare disorders, market share of individual therapies, and current and forecasted market size from 2019 to 2032, segmented into 7MM [the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan].

Key Takeaways from the Cell and Gene Therapies in Rare Disorders Market Report

Discover which therapies are expected to grab the major cell and gene therapies in rare disorders market share @ Cell and Gene Therapies in Rare Disorders Market Report

Cell and Gene Therapies in Rare Disorders Overview

Cell and gene therapies use genes and cells to treat disease. A gene is a unit of DNA containing genetic information passed down from generation to generation. The genome comprises all genes; genes may contain information on observable features such as height or eye color. Many genes contain instructions for RNA or protein molecules that are not visible from the outside but serve crucial tasks in the body's cells. Cells are the building blocks of plants and animals (including humans); they are small functional units that work together to generate organs and tissues. Cell and gene therapy technology is quickly evolving for many different diseases. However, cell and gene treatments are still experimental drugs, and much more study is required before many of these therapies are available to patients worldwide.

Cell and Gene Therapies in Rare Disorders Epidemiology Segmentation

DelveInsight estimates that there were approximately 900K prevalent cases of selected indications for cell and gene therapies in rare disorders in the 7MM in 2022.

As per our analysis, the highest prevalent cases from the selected indications for cell and gene therapies in rare disorders were for Retinitis Pigmentosa in the United States, whereas the least cases were reported for Hunter Syndrome in 2022.

The cell and gene therapies in rare disorders market reportproffers epidemiological analysis for the study period 20192032 in the 7MM segmented into:

Cell and Gene Therapies in Rare Disorders Market Insights

Numerous cell and gene therapies for rare diseases are currently approved in the 7MM, including retinitis pigmentosa (LUXTURNA), beta-thalassemia (ZYNTEGLO), epidermolysis bullosa (JACE), limbal stem cell deficiency (OCURAL), and many others. As per Delveinsight analysis, the total cell and gene therapies in rare disorders market size was around USD 1.5 billion in 2022. According to predictions, the United States will have the largest cell and gene therapies in rare disorders market. ZOLGENSMA produced the highest revenue of roughly USD 1 billion among the 7MM in 2022, while ROCTAVIAN is predicted to take the highest market share by 2032. ROCTAVIAN has received conditional approval in Europe for the treatment of severe hemophilia A. In addition to this approval, BioMarin Pharmaceutical is working to approve the drug in the United States, with a PDUFA target action date of June 30, 2023.

Hemophilia A is predicted to produce the most revenue among the selected indications by 2032, owing to the precedence of existing high treatment cost and expected high cost for emerging therapies along with significant residual unmet need. Gene treatments for Hemophilia A are estimated to earn around USD 6 billion in sales revenue by 2032 in the 7MM. The field of cell and gene therapies for rare indications is expected to rapidly expand in the coming years, as an increasing number of companies submit investigational new drug applications for these treatments each year, along with rising regulatory approval in the United States and Europe. In terms of manufacturing aspects of cell and gene therapies, there will be more competition for contract manufacturing businesses and pharmaceutical/biotechnology firms. The competition for contract manufacturing organization's production capacity will intensify as more companies enter the cell and gene therapy market, possibly driving up manufacturing costs. To ensure pharmaceutical/biotechnology firms can compete or obtain an advantage over competitors, companies may need to invest in manufacturing technologies or acquire companies with manufacturing expertise.

To know more about cell and gene therapies in rare disorders treatment guidelines, visit @ Cell and Gene Therapy Insights

Emerging Cell and Gene Therapies for Hemophilia A and Key Companies

Emerging Cell and Gene Therapies for Hemophilia B and Key Companies

Emerging Cell and Gene Therapies for Fabry Disease and Key Companies

Emerging Cell and Gene Therapies for Pompe Disease and Key Companies

Emerging Cell and Gene Therapies for Leber Hereditary Optic Neuropathy and Key Companies

Emerging Cell and Gene Therapies for Retinitis Pigmentosa and Key Companies

Emerging Cell and Gene Therapies for Hunter Syndrome and Key Companies

Emerging Cell and Gene Therapies for Batten Disease and Key Companies

Emerging Cell and Gene Therapies for Duchenne Muscular Dystrophy (DMD) and Key Companies

Emerging Cell and Gene Therapies for Amyotrophic Lateral Sclerosis (ALS) and Key Companies

Emerging Cell and Gene Therapies for Beta Thalassemia and Sickle Cell Anemia and Key Companies

Emerging Cell and Gene Therapies for Dystrophic Epidermolysis Bullosa and Key Companies

Emerging Cell and Gene Therapies for Ornithine Transcarbamylase Deficiency and Key Companies

Emerging Cell and Gene Therapies for Sanfilippo Syndrome Type A and Key Companies

Emerging Cell and Gene Therapies for Glycogen Storage Disease Type IA and Key Companies

Learn more about the FDA-approved cell and gene therapies for rare disorders @ Approved Cell and Gene Therapies in Rare Disorders Treatment

Cell and Gene Therapies in Rare Disorders Market Dynamics

The cell and gene therapies in rare disorders market is predicted to grow positively due to an increase in the approval of a growing number of gene therapies and their ease of adoption following approval, the ability to treat a wide range of conditions, an increase in the number of cases, an expected one-time dosing approach, and curative treatment options.

The approval of LIBMELDY, SKYSONA, HOLOCLAR, UPSTAZA, ROCTAVIAN, and other medicines has successfully created regulatory channels for the development of further cell and gene therapies. Companies around the world are working hard to develop new cell and gene therapies options to treat a wide range of indications, such as hemophilia A and B, lysosomal storage disorder (Fabry, Pompe Disease, Danon Disease, MPS I, MPS II, MPS III), neurological disorders (Batten, Parkinson), musculoskeletal disorders (DMD, myotubular myopathy), eye diseases (achromatopsia, limbal stem cell deficiency, retinitis pigmentosa, retinoschisis, age-related macular degeneration, Leber's hereditary optic neuropathy), and other indications such as diabetic macular edema, inborn metabolism disorder (Wilson's disease, Phenylketonuria, OTC deficiency/urea cycle disorders), dystrophic epidermolysis bullosa, gangliosidosis, and xerostomia.

Many diseases' treatment landscapes have drastically evolved in the last few years. Companies are now developing cell and gene therapies that will play an important role in the future, particularly in the treatment of rare genetic disorders. The process of defining ideal candidates for given gene therapy and cell therapy will have to wait for the enrolment and long-term follow-up of a sufficient number of study subjects to provide satisfactory clarity regarding its safety and efficacy. In conclusion, the future of cell and gene therapy looks optimistic. Several clinical trials have yielded favorable results in terms of safety and efficacy. The findings of these studies motivate additional research into many indications, and the current scenario predicts a positive shift in the cell and gene therapies in rare disorders market for the forecast period.

However, several factors may impede the growth of cell and gene therapies in rare disorders market in the coming years. Despite advances since the enactment of the Orphan Drug Act, people in the United States with rare diseases continue to face challenges to diagnosis, care, and treatment. Moreover, in Europe, a possible crisis with gene treatments for rare diseases is developing, and few companies have withdrawn the drug after failing to get reimbursement in the EU.

Report Metrics

Details

Study Period

20192032

Coverage

7MM [the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan]

Base Year

2019

Cell and Gene Therapies in Rare Disorders Market CAGR

35.8%

Cell and Gene Therapies in Rare Disorders Market Size in 2022

USD 1.5 Billion

Key Cell and Gene Therapies in Rare Disorders Companies

Roche, Freeline Therapeutics, Spark Therapeutics, Astellas Gene Therapies, Actus Therapeutics, GenSight Biologics, Coave Therapeutics, Johnson & Johnson, MeiraGTx, Applied Genetic Technologies Corporation, GenSight Biologics, Nanoscope Therapeutics, 4D Molecular Therapeutics, Ocugen, jCyte, ReNeuron, REGENXBIO, Amicus Therapeutics, Pfizer, Sarepta Therapeutics, Capricor Therapeutics, Nippon Shinyaku, Brainstorm Cell Therapeutics, CRISPR Therapeutics, Vertex Pharmaceuticals, Editas Medicine, Sangamo Therapeutics, Krystal Biotech, Abeona Therapeutics, Castle Creek Biosciences, Holostem Terapie Avanzate S.r.l., RHEACELL, Ishin Pharma, Anterogen, Ultragenyx Pharmaceutical, and others

Key Pipeline Cell and Gene Therapies in Rare Disorders Therapies

Giroctocogene fitelparvovec, Dirloctocogene samoparvovec, Fidanacogene elaparvovec, Verbrinacogene setparvovec (FLT-180a), FLT190, Isaralgagene civaparvovec (ST-920), 4D-310, SPK-3006, AT845, ACTUS-101, LUMEVOQ (lenadogene nolparvovec), CTx-PDE6b, Botaretigene sparoparvovec, ATGC-501 (laruparetigene zosaparvovec), GS030, MCO-010 (sonpiretigene isteparvovec), 4D-125, OCU400, jCell, RGX-121, AT-GTX-502 (scAAV9.P546.CLN3), PF-06939926, SRP-9001, CAP-1002, NurOwn (MSC-NTF cells), Exagamglogene autotemcel, EDIT-301, BIVV003, VYJUVEK (beremagene geperpavec), EB-101, D-Fi (dabocemagene autoficel), RV-LAMB3-transduced epidermal stem cells, Allogeneic ABCB5-positive Stem Cells, ISN001, ALLO-ASC-SHEET, DTX301, UX111 (ABO-102), DTX401 (AAV8G6PC), and others

Scope of the Cell and Gene Therapies in Rare Disorders Market Report

Discover more about cell and gene therapies for rare disorders in development @ Cell and Gene Therapy Clinical Trials

Table of Contents

1

Cell and Gene Therapies in Rare Disorders Market Key Insights

2

Cell and Gene Therapies in Rare Disorders Market Report Introduction

3

Cell and Gene Therapies in Rare Disorders Market Key Highlights from Report

4

Executive Summary of Cell and Gene Therapies in Rare Disorders

5

Key Events: Cell and Gene Therapies in Rare Disorders

6

Cell and Gene Therapies in Rare Disorders Epidemiology and Market Forecast Methodology

7

Cell and Gene Therapies in Rare Disorders Market Overview at a Glance in the 7MM

8

Disease Background and Overview of Cell and Gene Therapies in Rare Disorders

9

Epidemiology and Patient Population

10

Marketed Cell and Gene Therapies in Rare Disorders

10.1

Key Competitors in Cell and Gene Therapies in Rare Disorders

10.2

Hemophilia A

10.2.1

ROCTAVIAN (valoctocogene roxaparvovec): BioMarin Pharmaceutical

10.3

Hemophilia B

10.3.1

HEMGENIX (etranacogene dezaparvovec): CSL Behring/uniQure

10.4

Retinitis Pigmentosa

10.4.1

LUXTURNA: Sparks Therapeutics (a company of Roche)/ Novartis

10.5

Spinal Muscular Atrophy (SMA)

10.5.1

ZOLGENSMA (onasemnogene abeparvovec-xioi): Novartis (AveXis)

10.6

Metachromatic Leukodystrophy (MLD)

10.6.1

LIBMELDY (atidarsagene autotemcel): Orchard Therapeutics

10.7

Limbal Stem Cell Deficiency

10.7.1

HOLOCLAR (Autologous human corneal epithelial cells containing stem cells): Holostem Terapie Avanzate S.r.l.

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Significant Positive Shift in the Cell and Gene Therapies in Rare ... - PR Newswire

GCC governments have invested significantly in healthcare infrastructure in the past couple of decades. Evidently, healthcare cities and luxurious health complexes are mushrooming, raising the quality of medical services, and aspiring to establish the gulf region as a medical hub.

With a world leading infrastructure, the healthcare sector is ready for the future that will come with a new set of foreseen and unforeseen challenges, including a growing population and density, growing life expectancy, share of population over 65, changing lifestyle, and more.

Related: Clinical Communication & Collaboration Platforms: Foundational Technology for Smart Hospitals

Conversely, the upcoming trends in health-tech services illustrate a promising perspective, empowering patients to play an active role in health management at every stage of the treatment process. Meanwhile, technology advancements will have a-far-reaching impact that enables prevention, diagnostics, treatment, rehabilitation and care.

Related: Interconnected solutions can boost personalised healthcare systems

The changing demographics and epidemiological trends are the main factors contributing to the increasing healthcare demand in the gulf countries. However, transformation programs across larger economies, such as the Kingdom of Saudi Arabia and the United Arab Emirates, are driving a fundamental change that aims to leapfrog the healthcare industry from an emerging market status to a market of opportunity and transformation.

Jad Bitar, Managing Director and Senior Partner, Boston Consulting Group (BCG)

The expanding and ageing population, high prevalence of noncommunicable diseases (NCDs), rising cost of treatment and increasing penetration of health insurance are contributing to the higher costs in the industry. Navigating through these challenges requires a deeper look into personalised healthcare, developing a patient's "digital profile. Several technologies are pushing the boundaries of traditional medicine and enabling the transition to personalised medicine and more customised treatments, including targeted and gene medicine, bionics and robotics technology, tissue engineering and 3D printing. Overall, the wave of innovation is expected to offer more personalised services and treatment options especially coupled with Artificial Intelligence (AI), Machine Learning and massive data. This will usher the era of consumer-driven digital health that has been much talked about in the last decade.

We have recently conducted extensive research across 25 cities and identified trends that are shaping the future of healthcare. With digital and technology acting as fundamental shaping forces, five key trends stand out:

Patient empowerment: Patients will take an increasingly active role in the patient journey, leveraging access to their own health records and personal health analytics, home testing kits, personal electronic monitoring devices, etc. to shape their health and become a major component in the decision-making process.

Prevention: Health systems will benefit from predictive diagnosis of diseases, supported by technologies such as AI-enabled risk profiling, epidemiological understanding of different districts and cities, and data analytics for targeted health screenings. This will be the foundation of predictive-preventive systems. 2

Personalised treatment: New technologies (e.g., tissue engineering and 3D printers) will enable personalised and more accurate treatment allowing the arrival of bespoke medicine; health systems will build and leverage a patients 'digital profile' to enable targeted treatment for individuals as well as populations with similar profiles.

Integrated delivery models: Significant shifts are underway, from in-patient to out-patient care, and the emergence of alternative patient friendly formats and seamless virtual health delivery networks, to home care and malls care, as well as other formats.

Healthcare Professional 4.0: Machine enabled diagnosis will facilitate a symbiosis between health professionals and AI, where digital image diagnostics, virtual reality, digital twins, and routine surgery will deliver greater value and better health results. 4.0 health professionals will require increased digital, cognitive and behavioral skills.

Rapid health technological advancements in the GCC result from the regions agility to overcome the COVID-19 pandemic with an expedited rollout of technology-enabled solutions. Healthcare has witnessed a more prominent and disruptive change with a massive shift towards prevention rather than cure through Health-Tech solutions that are more data-driven and are creating efficiencies in operations, costs, and delivery of care. Moving forward, decision-makers may leverage these solutions at-scale by envisaging public-private partnerships with HealthTech start-ups, consequently driving growth across the servicing chain in the health sector.

By Jad Bitar, Managing Director and Senior Partner, Boston Consulting Group (BCG)

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The Future of Healthcare: Five Trends in HealthTech Services - Omnia Health Insights

There is no complete genetic explanation for why humans live longer than mice or why tortoises can live for a century. Looking for answers in long-lived animals genomes is tempting for researchers who want to figure out which genes extend lifespan.

I want to live as long as possible, said Stephen Treaster, a postdoctoral researcher at Boston Childrens Hospital. I want to see what technology and society looks like in 1000 years, ideallyhe said. Treaster used rockfish as an unlikely organism to explore the possibilities for longevity and uncovered two new pathways that appear connected to lifespan. He and his colleagues published their results in Science Advances(1).

For aging studies, researchers mostly use short-lived animals like mice, which live about three years, or Drosophila and Caenorhabditis elegans, which live for months or days (24). To make them live 10, 15, 20 percent longer, it doesn't necessarily apply to our end of the aging spectrum, said Treaster. Evolution has already solved the aging problem. There are individual species that can live hundreds and hundreds of years. My approach is to look at these exceptionally long-lived models.

Lifespan arises in different species from a complex network of genes and environmental interactions. Because of that complexity, it is difficult to look at the genetics of many model organisms and say for certain which genes contribute to that organisms lifespan. Fortunately, a natural evolutionary experiment on longevity exists. Rockfish are a family of common marine fish with worldwide distribution. Some species of rockfish live as little as 10 years while others can reach ages of 200 years or more. Since the rockfish clade emerged a relatively recent eight million years ago, there hasnt been time for rockfish to develop much genetic diversity.

The wide variety of lifespans in rockfish make them an interesting model for aging research.

credit: NOAA's National Ocean Service

The rockfishs nascent lineage is an analysts advantage. The wide variety of lifespans that different rockfish lineages exhibit can easily be pinned to genetic differences. Just as important, rockfish lifespans do not correlate with environmental conditions such as temperature or water depth, the kind of confounding effects that might make a genetic link to longevity in other animals less clear.

By analyzing genes related to aging that seemed to be evolutionarily selected across a variety of different rockfish species with varying lifespans, Treaster identified two different genetic pathways that seem to have evolved along with changes in lifespan.

The first pathway controls insulin signaling. Scientists know that insulin signaling affects aging and metabolism from past studies in other model organisms. On one hand, this is kind of a boring result, said Treaster. On the other hand, however, the fact that insulin signaling reappeared when analyzing rockfish seems to confirm the groups approach.

It was extremely clever analysis. It's not an easy analysis to do because the genomes of these [fish] are not well described.-Stephen Austad, University of Alabama

The other less well-known pathway they found is in the flavonoid signaling network. The flavonoid pathway is made up of proteins with activity modulated by flavonoid molecules, which are three-ring and 15-carbon structures common in plants (5).

None of the previous mouse or fly studies have pointed to the flavonoid network, said Steven Austad, an evolutionary biologist and aging researcher at the University of Alabama at Birmingham who was not involved in the study. It was extremely clever analysis. It's not an easy analysis to do because the genomes of these [fish] are not well described.

While Treaster is excited about identifying a possible new genetic link to lifespan, he emphasized that how exactly flavonoid pathway genes affect lifespan is not known. The next step is to play with these genes from rockfish to see if we can extend longevity in a conventional model. We're doing that right now. We are targeting these genes in zebrafish to see if we can extend lifespan, said Treaster. If that work confirms that flavonoids do directly alter lifespan, then Treaster hopes that scientists interested in aging-related diseases may explore the pathway for potential drug targets.

Austad isnt certain that identifying these genetic pathways to aging in fish will result in druggable targets in humans. He doubts that the insulin pathway, which has a demonstrated connection to longevity in flies and roundworms, can be connected to human lifespan. The evidence that that's a major player in human aging is relatively sparse, he said, noting that there havent been any human centenarians with identified novel mutations in the insulin signaling pathway.

Nevertheless, the publication gave him hope. This flavonoid network it's really a new thing and deserves investigation, he said.

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New genetic pathways involved in aging - Drug Discovery News

BEIJING & BURLINGTON, Mass.--(BUSINESS WIRE)--CANbridge Pharmaceuticals Inc. (HKEX:1228), a leading global biopharmaceutical company, with a foundation in China, committed to the research, development and commercialization of transformative rare disease and rare oncology therapies, announced that data from its gene therapy research agreement with the Horae Gene Therapy Center, at the UMass Chan Medical School, was presented at the 29th European Society of Gene and Cell Therapy Annual Congress in Edinburgh, Scotland, today.

In an oral presentation, Guangping Gao, Ph.D., Co-Director, Li Weibo Institute for Rare Diseases Research, Director, the Horae Gene Therapy Center and Viral Vector Core, Professor of Microbiology and Physiological Systems and Penelope Booth Rockwell Professor in Biomedical Research at UMass Chan Medical School, discussed the study that was led by the investigator Jun Xie, Ph.D., and his team from Dr. Gaos lab, and titled Endogenous human SMN1 promoter-driven gene replacement improves the efficacy and safety of AAV9-mediated gene therapy for spinal muscular atrophy (SMA) in mice.

The study showed that a novel second-generation self-complementary AAV9 gene therapy, expressing a codon-optimized human SMN1 gene. under the control of its endogenous promoter, (scAAV9-SMN1p-co-hSMN1), demonstrated superior safety, potency, and efficacy across several endpoints in an SMA mouse model, when compared to the benchmark vector, scAAV9-CMVen/CB-hSMN1, which is similar to the vector used in the gene therapy approved by the US Food and Drug Administration for the treatment of SMA. The benchmark vector expresses a human SMN1 transgene under a cytomegalovirus enhancer/chicken -actin promoter for ubiquitous expression in all cell types, whereas the second-generation vector utilizes the endogenous SMN1 promoter to control gene expression in different tissues. Compared to the benchmark vector, the second-generation vector resulted in a longer lifespan, better restoration of muscle function, and more complete neuromuscular junction innervation, without the liver toxicity seen with the benchmark vector.

This, the first data to be presented from the gene therapy research collaboration between CANbridge and the Gao Lab at the Horae Gene Therapy Center, was also presented at the American Society for Cellular and Gene Therapy (ASGCT) Annual Meeting in May 2022. Dr. Gao is a former ASCGT president.

Oral Presentation: Poster #: 0R57

Category: AAV next generation vectors

Presentation Date and Time: Thursday, October 13, 5:00 PM BST

Authors: Qing Xie, Hong Ma, Xiupeng Chen, Yunxiang Zhu, Yijie Ma, Leila Jalinous, Qin Su, Phillip Tai, Guangping Gao, Jun Xie

Abstracts are available on the ESGCT website: https://www.esgctcongress.com/

About the Horae Gene Therapy Center at UMass Chan Medical School

The faculty of the Horae Gene Therapy Center is dedicated to developing therapeutic approaches for rare inherited disease for which there is no cure. We utilize state of the art technologies to either genetically modulate mutated genes that produce disease-causing proteins or introduce a healthy copy of a gene if the mutation results in a non-functional protein. The Horae Gene Therapy Center faculty is interdisciplinary, including members from the departments of Pediatrics, Microbiology & Physiological Systems, Biochemistry & Molecular Pharmacology, Neurology, Medicine and Ophthalmology. Physicians and PhDs work together to address the medical needs of rare diseases, such as alpha 1-antitrypsin deficiency, Canavan disease, Tay-Sachs and Sandhoff diseases, retinitis pigmentosa, cystic fibrosis, amyotrophic lateral sclerosis, TNNT1 nemaline myopathy, Rett syndrome, NGLY1 deficiency, Pitt-Hopkins syndrome, maple syrup urine disease, sialidosis, GM3 synthase deficiency, Huntington disease, and others. More common diseases such as cardiac arrhythmia and hypercholesterolemia are also being investigated. The hope is to treat a wide spectrum of diseases by various gene therapeutic approaches. Additionally, the University of Massachusetts Chan Medical School conducts clinical trials on site and some of these trials are conducted by the investigators at The Horae Gene Therapy Center.

About CANbridge Pharmaceuticals Inc.

CANbridge Pharmaceuticals Inc. (HKEX:1228) is a global biopharmaceutical company, with a foundation in China, committed to the research, development and commercialization of transformative therapies for rare disease and rare oncology. CANbridge has a differentiated drug portfolio, with three approved drugs and a pipeline of 11 assets, targeting prevalent rare disease and rare oncology indications that have unmet needs and significant market potential. These include Hunter syndrome and other lysosomal storage disorders, complement-mediated disorders, hemophilia A, metabolic disorders, rare cholestatic liver diseases and neuromuscular diseases, as well as glioblastoma multiforme. CANbridge is also building next-generation gene therapy development capability through a combination of collaboration with world-leading researchers and biotech companies and internal capacity. CANbridges global partners include Apogenix, GC Pharma, Mirum, Wuxi Biologics, Privus, the UMass Chan Medical School and LogicBio.

For more on CANbridge Pharmaceuticals Inc., please go to: http://www.canbridgepharma.com.

Forward-Looking Statements

The forward-looking statements made in this article relate only to the events or information as of the date on which the statements are made in this article. Except as required by law, we undertake no obligation to update or revise publicly any forward-looking statements, whether as a result of new information, future events or otherwise, after the data on which the statements are made or to reflect the occurrence of unanticipated events. You should read this article completely and with the understanding that our actual future results or performance may be materially different from what we expect. In this article, statements of, or references to, our intentions or those of any of our Directors or our Company are made as of the date of this article. Any of these intentions may alter in light of future development.

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CANbridge-UMass Chan Medical School Gene Therapy Research in Oral Presentation at the European Society of Gene and Cell Therapy (ESGCT) 29th Annual...

Low- and middle-income countries (LMICs) can and should play a leading role in dictating the future of the worlds most advanced healthcare technologies, according to the World Economic Forums Accelerating Global Access to Gene Therapies: Case Studies from Low- and Middle-Income Countries white paper.

Gene therapy is at the forefront of modern medicine. By making precise changes to the human genome, these sophisticated technologies can potentially lead to one-time lifelong cures for infectious and non-communicable diseases (e.g. HIV, sickle cell disease) that affect tens of millions of people around the globe, most of whom live in LMICs. However, too often the benefits of advanced healthcare technologies remain restricted to high-income countries (HICs), a reality that could happen to gene therapies.

The narrative that new healthcare technologies are unsuitable for LMICs is a long-standing rationale for excluding a majority of the world from the benefits of modern medicine. Without concerted efforts to build gene therapy capacity in LMICs, the global health divide will continue to widen.

The gene therapy industry is in its infancy, but early clinical successes and substantial funding have generated enormous momentum. This is an ideal moment for LMICs to enter the global market, prioritizing the needs of communities carrying the highest disease burdens.

We asked five clinical researchers from LMICs, who are all co-authors on the recent white paper, what innovations on the ground and changes at policy-level need to happen for gene therapy to make a real impact on global health.

Dr. Cissy Kityo Mutuluza, Executive Director, Joint Clinical Research Centre, Uganda

Although gene therapy has the potential to treat or even cure life-limiting diseases and infections, the full impact will only be realized if we deliver it for the benefit of all people, instead of fueling more health inequity between and within countries.

An essential first step towards maximizing the global impact of gene therapies is to build research and development (R&D) capacity in LMICs. Current gene therapy R&D has mainly excluded LMICs, instead centering pre-clinical and clinical work in HICs. Gene therapy R&D needs to be performed in regions where target diseases are prevalent to ensure that these therapies are safe and effective for those populations. Manufacturing technologies and healthcare infrastructure, which are the cost drivers for gene therapy products in HICs, need to be replaced with innovative and simplified platforms and workflows that bring down costs and are functional and cost-effective within LMIC health systems.

As for policy and regulation, individual countries must establish gene therapy frameworks that enable R&D. The construction of such frameworks should be guided by recommendations from the World Health Organization, emphasizing safety, effectiveness and ethics.

A critical component in effective global health interventions is community outreach. Treatment acceptability is essential for future clinical trials, thus it is important for scientists and clinicians to be clear about the risks and benefits of gene therapies. Communication and education activities should be made accessible to a broad range of stakeholders. Gene therapy and gene editing technologies are complex and it can be difficult for the public to understand their possible benefits or side effects. However, patient and public support is critical for the successful adoption of any new technology.

Professor Johnny Mahlangu, University of the Witwatersrand, South Africa

The ongoing COVID-19 pandemic is accelerating innovation, implementation and acceptance of molecular therapeutics (e.g. mRNA vaccines) globally. As a result, there is escalating interest in developing molecular interventions for many other conditions, such as gene therapies for genetic diseases. Strategically leveraging infrastructure that is being developed for molecular therapeutics will be critical in manufacturing, testing, and delivering gene therapies across diverse settings. Three critical areas of consideration include:

The application of precision medicine to save and improve lives relies on good-quality, easily-accessible data on everything from our DNA to lifestyle and environmental factors. The opposite to a one-size-fits-all healthcare system, it has vast, untapped potential to transform the treatment and prediction of rare diseasesand disease in general.

But there is no global governance framework for such data and no common data portal. This is a problem that contributes to the premature deaths of hundreds of millions of rare-disease patients worldwide.

The World Economic Forums Breaking Barriers to Health Data Governance initiative is focused on creating, testing and growing a framework to support effective and responsible access across borders to sensitive health data for the treatment and diagnosis of rare diseases.

The data will be shared via a federated data system: a decentralized approach that allows different institutions to access each others data without that data ever leaving the organization it originated from. This is done via an application programming interface and strikes a balance between simply pooling data (posing security concerns) and limiting access completely.

The project is a collaboration between entities in the UK (Genomics England), Australia (Australian Genomics Health Alliance), Canada (Genomics4RD), and the US (Intermountain Healthcare).

Professor Vikram Mathews, Christian Medical College, Vellore, India

Gene therapy is on course to revolutionize medical care for several conditions. The hope is that gene therapy will be a one-time curative therapeutic intervention for diseases ranging from inherited hemoglobinopathies, such as sickle cell disease and thalassemia, to acquired diseases such as HIV.

A primary challenge limiting access to these life-saving therapies is their astronomical costs, making them inaccessible even in developed countries where most gene therapies have originated. Due to economic challenges, there is often a mismatch between regions in the world where development and clinical research happens versus regions in the world where the incidence of the disease target is the highest. Classic examples of these are sickle cell disease and HIV with the highest incidence rates in Africa.

Moving the manufacturing of gene therapy products to local regions and point of care settings (within hospitals) are strategies that can both significantly reduce the cost of these products and improve accessibility. Additionally, current gene therapy approaches use expensive ex vivo procedures that require removal of a patients cells from their body. Instead, researchers must develop novel in vivo methods that simplify the procedure to a single injection directly into the patient, saving time and money.

Professor Julie Makani, Muhimbili University of Health and Allied Sciences, Tanzania

In order for gene therapy to have an impact on global health, changes in innovation and policy must occur at several levels: individual, institutional, national, continental and global.

At the individual level, patients and personnel are the primary focal points. Taking a patient-centered approach will ensure that the community is involved in research and will have a say in receiving a particular health intervention when it is available. For personnel working in areas pertinent to gene therapy including healthcare, research and education, there is a need to increase knowledge and to change perspectives regarding the advancements and achievements made within the field of gene therapy.

At the national, continental and global levels, genomic research is catalyzed by strategic partnerships and often occur in Centers of Excellence (CoE). Many countries in Africa have established CoEs in academic settings, which integrate health and science programmes. These innovative environments help maximize resources (physical and human) and provide settings that facilitate research and translation of research findings to health interventions to be done contemporaneously, in the appropriate population and geographical region.

At the policy-level, investments in global health and research in gene therapy must change. This can be done in three ways: direct investment to institutions in Africa; increase in the level of investment through funding partnerships; and recognition that the duration of investment needs to be longer than the normal funding cycles of three to five years.

Professor Suradej Hongeng, Mahidol University, Thailand

Gene therapy has received global attention over the last few years, recognition that continues to grow with each new clinical success. The field is constantly evolving, with disruptive innovation across public and private sectors. However, access to these life-saving treatments remain restricted due to a number of technical and policy challenges.

First, researchers must continue to develop cost-effective ways to administer gene therapies into patients, an area of R&D where the private sector can play an important role. Yet many LMICs have weak ecosystems to support the emergence of new companies or entice collaborations with multinational companies. Stronger private sector involvement will be critical for penetration into emerging markets.

Second, the unique nature of these personalized treatments makes them difficult to regulate within traditional frameworks, meaning that agencies must update current policies and regulations. As regulation evolves, it must also converge with the frameworks of other countries. This will make it easier for companies to navigate regulations and interact with agencies when performing clinical trials or bringing a therapy to multiple markets.

See the article here:
Gene therapy can make a real impact on global health but we need equitable access, say experts - World Economic Forum

NEW YORK & CAMBRIDGE, England--(BUSINESS WIRE)--Empyrean Neuroscience, Inc., a leading genetic engineering company dedicated to developing neuroactive compounds to treat neuropsychiatric and neurologic disorders, today announced that it has launched with a $22 million Series A financing and a genetic engineering platform to advance a pipeline of neuroactive compounds targeting disorders of the central nervous system (CNS). The company is founded on a proprietary platform designed to genetically engineer small molecule therapeutics from fungi and plants. Veteran biotech executives Usman Oz Azam, M.D., Chief Executive Officer, and Fred Grossman, D.O., FAPA, Chief Medical Officer, lead the company.

Through precision targeting and engineering of the fungal and plant genomes, Empyrean is working to enhance and modulate neuroactive compounds produced by these kingdoms. The platform is being used to identify therapeutic fungal alkaloids, cannabinoids, and other small molecules that may exhibit enhanced efficacy and safety. In addition, the platform is designed to discover novel small molecules that may exhibit a therapeutic benefit.

There is an enormous medical need for safe and effective therapeutics that treat neuropsychiatric and neurologic disorders and we believe genetic engineering provides the answer, said Dr. Azam, Empyreans Chief Executive Officer. By applying our genetic engineering platform to make precise modifications to the genomes of fungi and plants, we can change the amount and kind of neuroactive small molecules they produce, with the goal of developing safe and effective treatments for difficult-to-treat diseases of the CNS.

The companys developmental pipeline includes fungal alkaloids, cannabinoids, and other neuroactive compounds, such as N,N-Dimethyltryptamine (DMT), for the potential treatment of major depressive disorder (MDD), post-traumatic stress disorder (PTSD), neurologic disorders, substance abuse and dependence, and chronic pain. Investigational New Drug (IND) enabling studies of the companys first genetically engineered encapsulated mushroom drug product are currently underway, and the company aims to enter the clinic for MDD in 2023.

Fungal alkaloids and cannabinoids have shown promise in treating depression, PTSD, anxiety, and other neuropsychiatric and neurologic disorders, said Dr. Grossman, Empyreans Chief Medical Officer. We believe our approach of genetically engineering fungi and plants can improve their safety and efficacy and will ultimately help to address the substantial unmet medical need in patients who suffer from these diseases.

As part of its genetic engineering platform, the company has licensed CRISPR/Cas9 technology from ERS Genomics for genetic engineering applications related to its therapeutic pipeline.

Dr. Azam was previously President and Chief Executive Officer of Tmunity Therapeutics, a biotech developing genetically engineered cell therapies for applications in cancer. Before Tmunity, he was Global Head of Cell & Gene Therapies at Novartis, where he was responsible for commercial operations, business development licensing, new product commercialization, clinical development, regulatory affairs, and other aspects of the global cell and gene therapies business. He was Chief Executive Officer of Novaccel Therapeutics, Chief Medical Officer of Aspreva Pharmaceuticals, and earlier in his career, held positions at Johnson & Johnson, GSK, and Pfizer. Dr. Azam received his M.D. from the University of Liverpool School of Medicine and is board certified in obstetrics and gynecology in the United Kingdom.

Before joining Empyrean, Dr. Grossman was Chief Medical Officer of Mesoblast Ltd. and President and Chief Medical Officer of Glenmark Pharmaceuticals. He has held executive leadership positions in large pharmaceutical companies, including Eli Lilly, Johnson & Johnson, Bristol Myers Squibb, and Sunovion. He has been responsible for leading the development, approval, and supporting the launch of numerous global medications addressing significant unmet medical needs across therapeutic areas, particularly in the CNS. He has held academic appointments and has authored numerous scientific publications. He was trained in psychiatry at Hahnemann University in Philadelphia and at the National Institute of Mental Health in Bethesda, Maryland and completed a Fellowship in the Section on Clinical Pharmacology at the National Institutes of Health. Dr. Grossman is a board-certified psychiatrist and Fellow of the American Psychiatric Association.

About Empyrean Neuroscience

Empyrean Neuroscience is a genetic engineering company developing a pipeline of neuroactive therapeutics to treat a range of neuropsychiatric and neurologic disorders. Through precision genetic modification, transformation, and regeneration of fungi and plants, the platform allows for the creation of small molecule therapeutics. In addition, the platform enables the discovery of novel small molecules that may exhibit therapeutic properties. The company is based in New York City and Cambridge, UK.

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Empyrean Neuroscience Launches with $22M Series A and Genetic Engineering Platform to Advance Pipeline of Neuroactive Compounds Targeting CNS...

Study characteristics

Sixteen studies were included in the analysis [46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61]. Most were quantitative (n=12), using questionnaires to assess public perceptions [46,47,48,49,50,51,52, 54, 56, 57, 59, 61]. Three studies conducted focus groups [53, 55, 60] while one study used both focus groups and a survey [58]. The US has contributed the most to this field thus far, undertaking six of the 16 studies identified in the literature search [49, 50, 52, 53, 55, 58]. This is followed by Canada (n=2) [48, 51] and Japan (n=2) [54, 59]. Each of the following countries contributed one study: Jordan [56], Korea [57], The Netherlands [61], Singapore [60], Qatar [46] and the UK [47]. Ten of the studies attempted to recruit a representative sample [46,47,48,49, 51, 53, 54, 56, 59, 61]. Higher educated participant populations (compared to the general population) were noted in four studies [48, 59,60,61]. Three studies recruited participants from specific sites [52, 55, 57]. No studies attempted to discern the views of underrepresented populations aside Mallow et al. [58] who conducted focus groups with a rural community (Table3, Supplementary File3).

Education level influenced decisions to hypothetically partake in genomic testing in different ways [49, 51, 56, 59, 61]. Three studies found that more educated individuals were more likely to be interested in testing [49, 56, 59], while two other studies found that being more educated led to more critical attitudes towards testing [51, 61]. One study found no association between education level and attitude towards testing [57]. Khadir, Al-Qerem and Jarrar [56] found that having a low perceived knowledge of genomic testings social consequences reduced the likelihood of having a reserved attitude. Abdul Rahim et al. [46] found genetic/genomic knowledge did not impact whether a participant would engage in testing.

The age of the participant was reported to influence decision making [49, 54, 56, 57, 59], with no consensus on attitudes of older versus younger adults. Lee et al. [57] found that older adults were more likely to approve of integrating personalised medicine testing into standard healthcare. Two other studies also found that older adults were slightly more interested in genomic testing [54, 56]. In contrast, Okita et al. [59] found that older adults were less willing to partake in genomic testing, while Dodson et al. [49] found no association between age and likeliness to have testing.

Abdul Rahim et al. [46] found that marital status was not significantly associated with willingness to partake in testing in Qatari adults, while Dodson et al. [49] found American participants planning to have children in the next five years had significantly increased interest in testing. Dodson et al. [49] was the only study to investigate whether ethnicity influenced decision-making, showing no association.

Okita et al. [59] assessed the influence of employment status on willingness to partake, reporting that students had significantly more positive attitudes towards testing compared to employed respondents. Bombard et al. [48] found that having an income of more than CAD$80,000 led to a 11-12% decrease in likeliness of believing parents have a responsibility to have their child tested via expanded NBS. No study assessed the impact of sex on attitude towards testing, however Lee et al. [57] found that sex did not significantly influence whether the participant had heard of personalised medicine.

Using the NASSS domains we were able to map primary source data to technology (Domain 2), value proposition (Domain 3), the adopter system (Domain 4) and the wider context (Domain 6) (Fig.2). Greenhalgh et al. [39] does not provide specific definitions for their domains, rather they frame these domains in the form of questions that need to be answered. We replicated this approach and adapted the questions to align with our study questions (Supplementary File4).

The NASSS Framework considers the influences on adoption, nonadoption, abandonment, spread, scale-up, and sustainability of healthcare technologies. Domains 2 (Technology), 3 (Value proposition), 4 (Adopter system) and 6 (Wider context) of the NASSS Framework have been addressed in this scoping review to consider how public perceptions are incorporated in the framework.

Domain 2 considers the technical aspects of the technology that will influence its implementation [39]. Questions 2B, types of data generated; 2C, knowledge needed to use the technology; and 2E, Who owns the IP generated by the technology?, are addressed in the primary sources.

This question considers the knowledge generated by the technology and how this is perceived by patients and/or caregivers. Two studies cited the accuracy of genetic information as an issue for their participants [54, 58].

Greenhalgh et al. [39] defines this as the type of knowledge needed by both healthcare providers and patients to use the technology. However, we will only focus on the views of the general public. Although patients of genomic testing do not necessarily need knowledge to undertake testing, the informed consent process is essential. To gain informed consent from patients, understanding the baseline genomic knowledge of the public is beneficial for those taking consent. Knowledge of genetics and genomics was assessed in several different ways across the included articles [46, 52,53,54, 56, 58, 60]. These included asking participants if they had heard of various genetic and/or genomic terms, how they had heard about genomic testing, how participants describe genomics (in a focus group setting) and questions on genetics knowledge.

Abdul Rahim et al. [46] found that less than a third (n=245) of survey respondents had heard of genomic testing while just over half (n=447) had heard of genetic testing. Gibson, Hohmeier and Smith [52] found that 54% (n=7) of their participants had heard the term pharmacogenomics. Hishiyama, Minari and Suganuma [54] found that more than two-thirds of their participants had heard of classic genetic terminology (e.g. DNA, gene, chromosome), whereas fewer participants had heard of newer, genomics terminology (e.g. personal genome and pharmacogenomics). Hahn et al. [53] found that the majority of their participants had not heard the term genomic medicine and personalised medicine. Ong et al. [60] found that English and Mandarin-speaking participants had heard of the term personalised medicine but not precision medicine, while Malay-speaking participants had not heard of either term.

Three studies questioned participants on how they had heard about genomics [46, 52, 53]. Abdul Rahim et al. [46] asked about both genetic and genomic testing whereas Gibson, Hohmeier and Smith [52] asked their participants where they had heard certain terms from. Abdul Rahim et al. [46] found that 30% (n=69) of participants who knew of genomic testing, heard about it through word of mouth. Gibson, Hohmeier and Smith [52] found that 54% (n=7) of participants had heard of pharmacogenomic testing, and other key terms associated with genomics, from the internet. Hahn et al. [53] used focus groups to discern participant understanding of the term genomic medicine, and found that some college students had heard of the term on the news and in biology classes.

Two studies used focus groups to discern genomic understanding [53, 58]. Mallow et al. [58] used a Community Participating Research approach. Community leaders suggested they use terms like genes and family health history rather than scientific terminology to assist discussions with the community. They found that participants were more likely to describe inheriting disease rather than inheriting health and wellness [58]. Hahn et al. [53] found that their focus group participants described genomic medicine in terms of genetics, family history, the genome project, using genetics to heal people and cloning. Ong et al. [60] also used focus groups to discuss baseline understanding of personalised medicine and precision medicine divided into the primary language spoken by the participants, allowing for discussions on terminology specific to the language.

Knowledge of genetic and/or genomic facts was directly assessed in two studies [46, 56]. Abdul Rahim et al. [46] and Khadir, Al-Qerem and Jarrar [56] both questioned respondents on their basic genetic literacy via survey questions. Abdul Rahim et al. [46] found that 56.1% of survey respondents (n=464) were able to answer at least 5 out of 8 genetic literacy questions correctly, while Khadir, Al-Qerem and Jarrar [56] found that participants were knowledgeable in hereditary genetic information but not other scientific facts. Khadir, Al-Qerem and Jarrar [56] also gave participants the opportunity to self-report their knowledge of genetics. Many participants reported having sufficient knowledge on basic medical uses of testing and potential social consequences, such as refusing testing and the rights of third parties to request genetic test results of individuals [56].

For genomic testing, we have interpreted this question to mean whether patients own their genetic information or if it belongs to the group that conducts sequencing. Four studies found that participants had concerns about the privacy of their or their childs genetic information [46, 53, 55, 57]. Hishiyama, Minari and Suganuma [54] also found that 37.1% (n=1112) of their participants were concerned about management and storage of genetic information.

Greenhalgh et al. [39] use this domain to consider the value placed on the technology by healthcare professionals and the patient. Question 3B, demand-side value (to patient), is addressed in the primary sources.

Greenhalgh et al. [39] define this question as the downstream value of the technology, including the evidence of benefit to patients and affordability. Willingness to pay for genomic testing was directly assessed in three studies [50, 52, 57]. Gibson, Hohmeier and Smith [52] found that if the entire cost of the pharmacogenomic test was covered by insurance, 89% of participants (n=24) would undertake testing [52]. Lee et al. [57] determined that age, gender, income, inconvenience of testing and prior knowledge all influenced whether participants would pay extra for personalised medical testing. Cost of testing was a concern for 44.8% of participants (n=316) [57]. Edgar et al. [50] found that most adoptees (72.4%) and non-adoptees (80.3%) were willing to pay between US$1 and US$499. Education level was a predictor for adoptee willingness to pay, while income predicted willingness to pay in non-adoptees [50]. Abdul Rahim et al. [46] did not directly assess willingness to pay, however they noted that a high income was associated with participant willingness to partake in testing.

Hahn et al. [53] and Ong et al. [60] did not directly assess willingness to pay for genomic sequencing, but participants did express concerns about the cost of testing to the individual and whether there would be equitable access to testing.

Greenhalgh et al. [39] use this domain to consider the adoption of the technology. The adopter system includes caregivers, healthcare professionals and patients. Question 4B addresses whether patients will adopt a technology, while 4C addresses if lay caregivers are available to facilitate adoption. As we did not include patients or lay caregivers in our review, we have adapted these definitions to incorporate hypothetical patients and/or carers under the term genomic naive public. Greenhalgh et al. [39] also emphasise patient acceptance and family conflict as influencing factors on use of technology.

Several personal values were identified across the included studies [46, 48,49,50,51,52,53,54, 56, 59]. Abdul Rahim et al. [46] and Hishiyama, Minari and Suganuma [54] found that contributing to science and medical research were reasons to partake [46, 54]. Other reasons for partaking in genomic testing suggested by Qatari adults included improved health knowledge and prevention of future health conditions [46]. This was also suggested by participants in Etchegary et al. [51], Hahn et al. [53] Khadir, Al-Qerem and Jarrar [56].

Bombard et al. [48] found that most of their participants preferred using scientific evidence (82%, n=994) and receiving expert advice (74%, n=897) when making important healthcare decisions. However, only half (53%) of participants had trust in healthcare (n=639). Hahn et al. [53] also found that many participants were sceptical of genomic medicine specifically, and often associated it with genetic engineering and cloning despite these not being directly related to genomic testing. Some participants felt they did not need the information genomic testing could provide, while others who would hypothetically want testing, believed it could promote the development of new treatments and provide more information on family history [53].

Primary reasons for not willing to partake in testing, as noted by Abdul Rahim et al. [46] were lack of time, information or knowledge, and privacy concerns. Similar concerns were suggested by Hahn et al. [53] and Lee et al. [57]. Fear of the unknown was also suggested in Hahn et al. [53] and Mallow et al. [58]. Participants in Hahn et al. [53] also noted they may be uncomfortable with the results, and the results may be too deterministic.

Aside from general concerns about the nature of genomic testing, concern regarding communication of genetic information among family members was also highlighted [47, 51, 53, 56, 58, 61]. Ballard et al. [47] noted that most participants, whether asked to imagine either they or a family member had a genetic condition, believed other family members who might also be affected should be notified. Etchegary et al. [51] and Khadir, Al-Qerem and Jarrar [56] also found that most participants would share genomic test results with family members. Participants in Hahn et al. [53] generally had a positive view of learning about genetic information if it would help other family members as some had family members who had passed away without explanation. Mallow et al. [58], however, found that communicating genetic information to family members may be an issue. Participants cited several reasons for this including: upsetting children and the creation of family issues, older family members not willing to disclose information and stigmatisation by the community, particularly if the information in question regarded mental illness or substance abuse disorders [58]. Participants also suggested they would only discuss genetic risk if there was a health crisis in the family [58]. Etchegary et al. [51], although noting that many participants would want to share information, found that those with the highest education levels and income were less likely to share results with family members. Vermeulen et al. [61] also found that 17% of their participants (n=160) were worried about causing friction within their families. However, participants who believed family history assessments were worthwhile cited disease prevention as a benefit to involving family members [61].

Greenhalgh et al. [39] describe the wider context as the institutional and sociocultural contexts. Examples of the wider context include health policy, fiscal policy, statements and positions of professional and peak bodies, as well as law and regulation. Here, in order to respond to our research questions, we focus on the socio-cultural aspects of the public.

Societal concerns were noted in many studies [51, 53,54,55,56, 58, 60, 61]. Twenty-two percent of participants (n=1425) in the Hishiyama, Minari and Suganuma [54] study noted employment and insurance discrimination as a concern. This was also noted in Etchegary et al. [51] and Khadir, Al-Qerem and Jarrar [56]. Participants in Hahn et al. [53] and Mallow et al. [58] noted discrimination and segregation as key societal issues that may arise. One-third of participants (n=311) in Vermeulen et al. [61] thought that individuals may be coerced into testing if it is normalised.

Cultural context may influence participant responses. For example, Abdul-Rahim et al. found the 45.1% of their respondents (n=241) were in consanguineous relationships [46]. No other study reported on consanguinity, demonstrating that different cultures prioritise different elements when reporting. Abdul-Rahim et al. found that 70.9% population (n=584) were willing to undergo genomic testing [46], whereas Dodson et al. found that 39.5% of their US population (n=805) were somewhat interested and 19.1% (n=389) were definitely interested in genomic testing [49]. These papers demonstrates that different cultures can influence perceptions of genomic testing. However, the Caucasian US population in Gibson et al. were more willing to undergo testing at 81.0% (n=21) [52], showing that even within the same country there can be cultural differences that may lead to differences in perception.

Read more here:
How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review | European Journal of Human Genetics -...

Led by Sam McLean, MD, MPH, University of North Carolina at Chapel Hill researchers and collaborators were awarded $3 million from the U.S. Department of Defense for to evaluate the efficacy of a therapeutic to reduce the frequency and severity of acute stress disorder and posttraumatic stress disorder.

The UNC Institute for Trauma Recovery in the UNC Department of Psychiatry has been awarded a $3-million grant from the U.S. Department of Defense (DoD) to investigate the potential of a therapeutic agent to reduce the frequency and severity of acute stress disorder and post-traumatic stress disorder (PTSD). Acute stress disorder refers to the bodys immediate response to trauma, whereas PTSD is the long-term effects of trauma.

Historically, we have been able to provide emergency care to address immediate and long-term problems after visible wounds using tools such as sutures and antibiotics. However, we still have nothing to offer trauma survivors, whether in the emergency department or on the battlefield immediately after trauma, to prevent the development of invisible wounds, said principal investigator Samuel McLean, MD, MPH, professor of psychiatry and emergency medicine and director of the Institute for Trauma Recovery at the UNC School of Medicine. We need to investigate potential treatments like ACER-801 in an effort to better address these challenges.

The proposed OASIS trial will examine the safety and efficacy of ACER-801 (osanetant) to reduce acute stress response symptoms, posttraumatic stress disorder symptoms and behavioral changes among patients presenting to the emergency department after a motor vehicle collision.

Participating sites will include Washington University in St. Louis, University of Massachusetts Chan Medical School, Rhode Island Hospital, University of Florida College of Medicine Jacksonville, and Indiana University School of Medicine. The study, proposed to begin in the first half of 2023, will evaluate the efficacy of ACER-801, which Acer Therapeutics licensed from Sanofi in 2019.

The OASIS trial builds upon a foundation of knowledge and infrastructure developed through the UNC-led, $40 million AURORA initiative. The AURORA study is a major national research initiative to improve the understanding, prevention, and recovery of individuals who have experienced a traumatic event. AURORA is supported by funding from NIH, One Mind, private foundations, and partnerships with leading tech companies such as Mindstrong Health and Verily Life Sciences, the healthcare arm of Googles parent company Alphabet.

We are proud to be partnering with a leading academic institution in the field of trauma recovery as we begin exploring ACER-801 as a treatment option to reduce the frequency and severity of acute PTSD, said Adrian Quartel, MD, FFPM, Chief Medical Officer of Acer. The data from thousands of motor vehicle collisions collected through the AURORA initiative should allow us to better predict the correlation of the emergence of acute stress disorder or PTSD symptoms following a motor vehicle collision.

Added Brandon Staglin, President of One Mind We are thrilled to see how our funding to the AURORA initiative over the last five years is accelerating further advancements such as the OASIS Trial. The targeted outcomes of the OASIS Trial are the types of results that One Mind supports and of incredible value to anyone who experiences trauma and traumatic stress.

Acute and chronic stress disorders can affect both civilian and military populations. According to the National Center for PTSD, in the US about 60% of men and 50% of women experience at least one trauma in their lives. In the United States alone, one-third of emergency department visits (40-50 million patients per year) are for evaluation after trauma exposures, and in a 2014 study involving 3,157 US veterans, 87% reported exposure to at least one potentially traumatic event during their service.3 Moreover, as many as 500,000 US troops who served in wars between 2001 and 2015 were diagnosed with PTSD.

Scientific rationale for OASIS:

TheTacr3gene encodes tachykinin receptor 3 (NK3R), which belongs to the tachykinin receptor family. This family of proteins includes typical G protein-coupled receptors and belongs to the rhodopsin subfamily. NK3R functions by binding to its high-affinity ligand, Neurokinin B (NKB), which is encoded by the Tac3 (human) gene.

The role ofNKB-NK3R in growth and reproduction has been extensively studied, butNKB-NK3R is also widely expressed in the nervous system from the spinal cord to the brain and is involved in both physiological and pathological processes in the nervous system. In animal models, Tac2 mRNA levels are rapidly up-regulated during fear consolidation 30 minutes after fear conditioning, and subsequent NKB-NK3R activation can lead to over stress sensitization and the consolidation of fear, and treatment with osanetant has been shown to block a critical fear/stress sensitization step in the brain. An effective therapeutic to reduce acute and persistent/long-term psychological and somatic symptoms would fulfill a large unmet need.

Media Contact: Mark Derewicz, 919-923-0959

Originally posted here:
UNC School of Medicine Awarded $3 Million to Lead Study to Reduce PTSD Frequency, Severity | Newsroom - UNC Health and UNC School of Medicine