Category Archives: Genetic Medicine

Recently published research in Nature Genetics featured the most diverse genetic study on type 2 diabetes.

While scientists are aware of certain factors that may increase a persons risk of developing type 2 diabetes, one major question is what role genetics plays.

Researchers from the US and England collaborated to analyze the DNA profiles of thousands of people of varying ancestries. In doing so, they not only identified new genes that contribute to type 2 diabetes, but they also became a step closer to developing a genetic risk score for the disease.

Type 2 diabetes occurs when a persons body does not make enough or use insulin effectively, making it difficult for the body to regulate blood sugar levels. It can be life threatening if someones blood sugar levels get too high or low.

The Centers for Disease Control and Prevention reports that around 37 million Americans have diabetes, and around 90-95% of these people have type 2 diabetes.

According to the American Diabetes Association, a person with type 2 diabetes may experience some of the following symptoms:

If a person suspects they have type 2 diabetes, they can consult with their physician, who can order a blood test to check for the disease.

There is not a cure for type 2 diabetes, but people with the disease can manage their blood sugar levels by taking medications and avoiding foods that spike blood sugar levels.

While there is a lot of research on type 2 diabetes, much of it has primarily targeted people of European ancestry.

Risk scores derived from one ancestry often do not transfer well to others, explained Professor Nathan Tucker in an interview with Medical News Today. Inclusion of diverse ancestries helps us understand the mechanisms of the risk, improving the probability of successful therapeutic development.

Prof. Tucker is an assistant professor and genetics core manager at Masonic Medical Research Institute in Utica, NY.

The authors also noted that genetic risk scores provide unreliable prediction when deployed in other population groups.

The researchers accessed data from other studies to create the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. They analyzed the genetic makeup of 180,834 individuals with type 2 diabetes and compared it to 1,159,055 people without diabetes.

The scientists placed people in 1 of 5 groups: European ancestry (51.1%); East Asian ancestry (28.4%); South Asian ancestry (8.3%); African ancestry (6.6%); and Hispanic ancestry (5.6%).

By comparing the DNA of the people with type 2 diabetes to those without, the researchers were able to identify more than 200 loci that were genetically significant in terms of developing the disease.

According to the National Human Genome Research Institute, a locus (or loci in the plural form) is a physical site or location within a genome (such as a gene or another DNA segment of interest.).

This study identifies 237 genomic regions that are associated with altered risk of type 2 diabetes, with nearly 100 evidence-based targets that are prioritized for the next stages of therapeutic development, Prof. Tucker explained.

The researchers also identified genes that may contribute to developing type 2 diabetes.

We have now identified 117 genes that are likely to cause type 2 diabetes, 40 of which have not been reported before. That is why we feel this constitutes a major step forward in understanding the biology of this disease, says Professor Anubha Mahajan.

Dr. Mahajan is a human genetics researcher and professor at the University of Oxford in England.

The sheer magnitude and diversity of this study create enormous potential for being able to one day identify a persons genetic risk for type 2 diabetes.

Inclusion of diverse ancestries helps us understand the mechanisms of the risk, improving the probability of successful therapeutic development, Prof. Tucker commented.

Dr. Brian Fertig, the Founder and President of the Diabetes and Osteoporosis Center in Piscataway, NJ, also spoke with MNT regarding the study.

The findings of this study are not surprising because diagnostic and therapeutic stratifications are too often overly simplified as one size fits all, Dr. Fertig said.

Dr. Fertig also thought the study emphasized the importance of diversity and inclusion in research.

This data underscores the need for a precision, personalized and dynamic scale of medicine, as its rare to see two diabetics with the same clinical and biochemical profile, Dr. Fertig commented. Every individual is unique and as such should have individualized treatment plans.

Continued here:
Type 2 diabetes and genetics: What is the link? - Medical News Today

The new report on Genetic Modification Therapies Market Report 2022 by Key Players, Types, Applications, Countries, Market Size, Forecast to 2030 offered by Market Research, Inc. includes a comprehensive analysis of the market size, geographical landscape along with the revenue estimation of the industry. In addition, the report also highlights the challenges impeding market growth and expansion strategies employed by leading companies in the Genetic Modification Therapies Market.

Genetic modification therapy incorporates a functional gene into a cell-based therapy. The genetic modification generally occurs outside the body, but the resulting genetic change to the patients DNA is permanent. The active payload comprise of the gene encoding for production of the therapeutic protein and gene controls that regulates production of the therapeutic gene. The vector, which may be either non-viral or viral, delivers the gene and gene control payload to the cells which are to be genetically modified.

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This market study covers and analyzes the potential of the global Genetic Modification Therapies industry, providing geometric information about market dynamics, growth factors, major challenges, PEST analysis and market entry strategy analysis, opportunities and forecasts. One of the major highpoints of the report is to provide companies in the industry with a strategic analysis of the impact of COVID-19 on Genetic Modification Therapies market.

Genetic Modification Therapies Market: Competition Landscape

The Genetic Modification Therapies market report includes information on the product presentations, sustainability and prospects of leading player including: Casebia Therapeutics, Acer Therapeutics Inc., 4D Molecular Therapeutics, Beam Therapeutics, Abeona Therapeutics, Editas Medicine, GE Healthcare, Allergan Plc., Marcala Biotech, Orchard Therapeutics

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All the regional segmentation has been studied based on recent and future trends and the market is forecasted throughout the prediction period. The countries covered in the regional analysis of the Global Genetic Modification Therapies market report are North America, Europe, Asia-Pacific (APAC), Middle East and Africa (MEA) and Latin America.

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Genetic Modification Therapies Market Growth Rate and Recent Trends by Top Player: Beam Therapeutics, Abeona Therapeutics, Editas Medicine, GE...

Sequencing the genome of cancer tumours is often used to help identify the type of cancer a person has and the best treatment for it.

Although cancer genomics has been used for a few years now, scientists are still learning about the best way to use genomic information to grade and categorize cancers.

One area that has received little attention until now is the methylation status of the cancer genome around specific genes. Methylation refers to the presence or absence of a methyl group on a base molecule within a gene that can affect whether or not a gene is expressed. This control of genetic expression is referred to as epigenetics.

Levels of expression of certain genes can also be affected by copy number variants (CNVs). CNVs arise because some sections of DNA are repeated, and the number of repeats varies between individuals due to deletions or duplications of DNA.

This leaves some people with many copies of a particular DNA sequence, whilst others have far fewer. These variations between individuals can be normal and harmless however, they can also underpin disease.

A type of brain cancer called meningioma is known for the diversity of CNVs that occur between the genomes of different tumors. CNVs can also affect methylation, which further affects gene expression.

In a study by researchers at Northwestern University in Evanston, IL, the scientists decided to look at both the level of methylation in the meningioma genomes and the number of repeats in different CNVs. They included certain genes in the cancer genome known to control growth and repair to see if this provided any insight into outcomes.

The findings are published in the journal Nature Genetics.

Using genomic data from 565 tumors taken from two cohorts of patients who had been followed up for 56 years, researchers profiled the DNA methylation of the cancer genomes. They then analyzed this alongside the presence of DNA repeats at certain points in the genome and also looked at the RNA present in the tumors to determine which genes had and hadnt been expressed.

They found that looking at the number of repeats within certain genes alone did not predict patient outcomes accurately, but looking at the number of repeats of genes alongside the level of methylation revealed three different grades of tumor.

Just over one-third of the tumors in the cohort were designated merlin intact meningiomas, where patients had the best outcomes. These tumors did not involve abnormal numbers of repeats on the gene that codes for a protein called merlin, which acts as a tumor suppressor. There was also normal methylation around this gene, allowing it to be expressed normally.

Conversely, 38% had immune-enriched meningiomas where patients had intermediate outcomes. These tumors were characterized by loss of the gene that codes for merlin and downregulation of other tumor-suppressing genes due to methylation.

This allowed them to overcome normal responses from the immune system.

A further 28% had hypermitotic meningiomas where the patient not only had fewer repeats of the gene that codes for merlin but a number of other gene repeats that caused either increased growth or decreased tumor suppression.

They also had methylation that allowed the increased expression of a gene known to promote cell growth. These patients had the least favorable outcomes.

Using this information, the researchers then tested the drug abemaciclib, a cancer drug already used for breast cancer, on tumor cells in cell lines, organoids, and xenografts in mice.

Results from these experiments indicated the drug could be used to treat individuals who had been identified as having either immune-enriched tumors or hypermitotic tumors.

Previously trials have failed to identify drugs that could reliably treat meningioma, but the identification of a biomarker could help identify patients who could benefit from certain treatments, said lead study author Dr. Stephen Magill.

Dr. Magill is an assistant professor of neurological surgery at Northwestern University Feinberg School of Medicine. He told Medical News Today in an interview: Some of our findings are really raising the possibility that the more we know about the biology, [the more] we can then say: this isnt just a meningioma, you have a hypermitotic meningioma.

So we can really use that as a biomarker to stratify who would go into a clinical trial.

Cancer researcher professor Noam Shomron from the Sackler Faculty of Medicine from Tel Aviv University, Israel, who was not involved in the research told Medical News Today:

I think its a wonderful study, because its so comprehensive, and it spans molecular and clinical findings and structural variations and methylation which is epigenetics [and something that] doesnt often take center stage.

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Brain tumor growth may be halted with breast cancer drug - Medical News Today

Additional safety data, including 12-month follow-up on all subjects, demonstrated GNSC-001 is safe and well tolerated

Injection of GNSC-001 was associated with increased synovial concentrations of IL-1Ra and improved pain and function scores

Osteoarthritis affects more than 30 million Americans, and is leading cause of disability

PALO ALTO, Calif., May 17, 2022 /PRNewswire/ -- Genascence Corporation ("Genascence"), a clinical-stage biotechnology company revolutionizing the treatment of prevalent musculoskeletal diseases with gene therapy, today announced that additional safety data from the Phase 1 clinical trial of GNSC-001 for the treatment of osteoarthritis (OA), including 12-month follow-up on all subjects, demonstrated that it was safe and well tolerated. These data will be delivered in a poster presentation today at the American Society of Gene & Cell Therapy's (ASGCT) 25th Annual Meeting being held virtually and in-person May 16-19, 2022, in Washington, D.C.

Genascence Corporation (PRNewsfoto/Genascence)

GNSC-001 is the company's lead program in OA. GNSC-001 is a genetic medicine a recombinant adeno-associated vector (AAV) carrying a coding sequence for interleukin-1 receptor antagonist (IL-1Ra), a potent inhibitor of interleukin-1 (IL-1) signaling. IL-1 is considered one of the key mediators involved in the pathogenesis of OA, causing inflammation as well as cartilage destruction. GNSC-001 is designed to offer long-term, sustained inhibition of IL-1 following a single injection into the affected joint.

"Osteoarthritis is incapacitating, causing years of pain and disability for people living with the disease. Further, patients have limited treatment options, and nothing is currently available that is able to slow down progression of OA," said Thomas Chalberg, Ph.D., founder and CEO of Genascence. "We are excited by these findings as they demonstrate the initial safety of GNSC-001 and provide encouraging data to pursue GNSC-001 as a novel treatment for OA patients. We look forward to advancing the clinical program for GNSC-001 so that we can deliver transformative results for patients suffering from this disabling disease."

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Title: A Phase I Trial of Osteoarthritis Gene Therapy (NCT02790723)Date: May 17, 2022 5:30-6:30 PM ETSession: Gene and Cell Therapy Trials in ProgressAbstract Number: 799Location: Walter E. Washington Convention Center, Hall DPresenter: Christopher H. Evans, Ph.D.

In this investigator-sponsored Phase 1 single-arm, open-label, dose-escalation clinical trial of GNSC-001, a total of nine subjects with knee OA were enrolled and monitored for one year. Three subjects were treated in each of three cohorts, receiving either 1x1011 vg, 1x1012 vg, or 1x1013 vg GNSC-001 delivered by intra-articular injection. The primary endpoint is safety and tolerability. Additional measures include levels of circulating viral genomes, immune response to the vector, blood and urine analysis, and physical examination. Although the study was not powered for efficacy and had no control group, patients reported pain via VAS (0-10) and pain and function via WOMAC. Knee joints were imaged by X-ray and MRI upon study entry and after one year.

Results showed that intra-articular injection of GNSC-001 produced no severe adverse events; blood chemistries and hematologies remained normal during the 12-month follow-up period with no evidence of neutropenia. There were no vector-related adverse events in eight of the nine subjects; one subject experienced a mild/moderate knee effusion following injection which resolved with ice and rest. Clinical trial participants developed various degrees of anti-AAV neutralizing antibodies after injection of GNSC-001, as seen in preclinical studies. Small amounts of viral genomes were found in peripheral blood, beginning one day after injection and clearing within four weeks. Injection of GNSC-001 was associated with increased concentrations of IL-1Ra in synovial fluid, which remained elevated after 12 months of follow up. Pain and function scores improved following injection of GNSC-001.

"These additional data from the Phase 1 trial of GNSC-001 in patients with osteoarthritis showed that it safe and well tolerated including after one year," said Dr. Evans. "These results are encouraging as we believe this therapy has the potential to reduce structural disease progression in osteoarthritis patients."

The study was supported by funding from the U.S. Department of Defense Peer Reviewed Medical Research Program (PRMRP). More information is available at https://clinicaltrials.gov/ct2/show/NCT02790723.

Abstracts can be accessed via the conference website at annualmeeting.asgct.org.

About Osteoarthritis (OA) of the Knee

Osteoarthritis (OA), or degenerative joint disease, is the leading cause of disability. It is characterized by destruction of cartilage and structural changes in bone within the joint, which contribute to pain and loss of joint function. Osteoarthritis affects more than 30 million Americans and is increasing as a result of the aging population and increasing prevalence of obesity. Osteoarthritis represents a major economic burden, owing to direct medical costs and loss of productivity. Each year, millions of patients are treated for knee OA with NSAIDs, opioids, and steroid injections into the knee to manage their knee pain. There are no currently available therapies known to alter or slow down OA progression.

About Genascence Corporation

Genascence, a clinical-stage biotechnology company revolutionizing the treatment of prevalent musculoskeletal diseases with gene therapy, is developing life-changing treatments for highly prevalent conditions affecting millions of people. The company was founded in 2017 with technology licensed from three leading U.S. research institutions: Mayo Clinic, University of Florida, and NYU Langone Health. Headquartered in Palo Alto, California, Genascence's founders and leadership team have deep experience in the design, development, and manufacturing of successful gene therapies and biological medicines. For more information, please visit http://www.genascence.com.

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Genascence Announces Data From Phase 1 Clinical Trial on GNSC-001, Company's Lead Program in Osteoarthritis, Presented at American Society of Gene...

Matt Triplett

In the rapidly evolving world of cancer treatment, Bothwell Regional Health Center patients have access to some of the most advanced testing available.

Bothwell has recently begun working with Caris Life Sciences, an organization that provides personalized genetic testing for different types of cancer. The American Cancer Society describes personalized or precision medicine as a method of care in which health care professionals evaluate a patients needs based on their genes, or in the case of cancer patients, the genes in their cancer cells. This allows clinicians to plan and tailor care to an individual and their unique needs. For people who might be at a higher risk of cancer, genetic testing can help guide healthy habits and preventative medicine.

According to Dr. Matt Triplett, hematology oncologist at Bothwells Susan OBrien Fischer Cancer Center, there are two main types of personalized genetic testing that can be done tumor testing and germline testing.

Tumor testing looks at features of a patients DNA to provide information specific to their cancer, he said. Germline testing is also done at the DNA level and can provide information about inherited genetic features in patients and family members who may be at risk.

Personalized genetic testing is becoming the new standard of care set by the National Comprehensive Cancer Network (NCCN). Through this type of testing, physicians can personalize their treatment plans to each individual patient, thereby providing a higher level of care.

Using genetic testing to guide cancer treatment is not new. Its been used for decades in lung and breast cancer testing, Triplett said. What is changing is that the use of genetic testing is becoming more widespread and playing a role in the treatment of many types of cancer. Current genetic testing can provide information about scores of potentially important genetic features. This progress is due to advances in genetic testing, decreasing costs, and progress in drug development.

According to the American Cancer Society, although two people may have the same type of cancer, the mutations within their genes may not be the same. For this reason, a drug that may be ideal for one patient may not work as well for another patient. With personalized genetic testing, physicians can get a better idea of a patients individual genetic mutations and how to treat them best.

One example would be a patient who, after a diagnosis of early-stage breast cancer, can avoid

chemotherapy because the genetic test result indicates she has a very low risk of cancer coming back, Triplett said. Another example is a patient with late-stage lung cancer could receive treatment in the form of a pill rather than chemotherapy because genetic testing discovered a certain mutation.

Genetic tests are straightforward, requiring either tissue from a biopsy or a blood draw. Samples are sent to a lab, and results are typically received within 10 to 14 days. Most insurance plans offer coverage for these types of tests, making them available to the majority of cancer patients.

At Bothwell, we have been keeping up with the rapidly changing landscape of genetic testing over the years by following the medical literature and adopting testing guidelines as they are put forth by experts, Triplett said. The impact of genetic test results can be enormous for patients. By personalizing care, patients can receive better treatment, giving them a better chance of beating their cancer.

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Genetic testing a weapon in the war on cancer - Sedalia Democrat

I was all for it, Malcolm said. So was Martin.

When they were tested, the brothers learned they had the variants and that the variants, not lupus, most likely were damaging their kidneys. They hardly knew how to react.

I am still trying to grapple with it, Malcolm said.

But Dr. Olabisi was not surprised. Researchers think the variants cause kidney disease only when there is a secondary factor. A leading candidate is the bodys own antiviral response, interferon, which is produced in abundance in people with lupus.

High levels of interferon also occur in people with untreated H.I.V. As happens in people with Covid-19, they can suffer an unusual and catastrophic collapse of their kidneys if they have the variants. Other viral infections, including some that may go unnoticed, can elicit surges of interferon that could set off the APOL1 variants. Interferon is also used as a drug to treat some diseases including cancer and was tested as a treatment for Covid patients.

For now, there is little Malcolm and Martin can do except take medications to control their lupus.

Martin said he understands all that, but hes glad he learned he has the variants. Now, he knows what he might be facing.

Im the kind of person who likes to plan, he said. It does make a difference.

While Dr. Olabisi is waiting to start his study, a drug company, Vertex, has forged ahead with its own research. But there was no agreement on how APOL1 variants caused kidney disease, so it was not clear what a drug was supposed to block.

If you dont understand the mechanism, that means you cant measure effects in a lab, said Dr. David Altshuler, chief scientific officer at Vertex. And if you cant measure effects in the lab, that means you cant correct them.

It was known how the APOL1 protein protected against sleeping sickness it punched holes in the disease-causing trypanosomes, making them swell with fluid and burst.

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Targeting the Uneven Burden of Kidney Disease on Black Americans - The New York Times