Category Archives: Genetic Medicine

July 08, 2020 -In the largest study of its kind, researchers discovered hundreds of novel genetic variants linked to type 2 diabetes, potentially improving care for millions living with this disease.

A team from the Perelman School of Medicine at the University of Pennsylvania and the Veterans Health Administrations (VHA) Corporal Michael J. Crescenz Veterans Affairs Medical Center (CMCVAMC) examined the genes of more than 200,000 people around the world with type 2 diabetes.

In addition to uncovering new genetic variants linked to the condition, researchers identified gene variants that vary by ethnicity, as well as variants tied to conditions related to type 2 diabetes like coronary heart disease and chronic kidney disease.

The group used data from the worlds largest biobank, the Million Veteran Program (MVP) in the VHA, as well as data from the DIAGRAM Consortium, the UK Biobank, the Penn Medicine Biobank, and Biobank Japan. Researchers analyzed a study population of 1.4 million people around the world, of whom almost 230,000 had type 2 diabetes.

The team then broke down the genetic makeup of those hundreds of thousands with type 2 diabetes and found 558 independent genetic variants that are differentially distributed between people with and without type 2 diabetes. Twenty-one of these variants were specific to European ancestry while seven were specific to African American ancestry. Of the 558 variants found, 286 had never been discovered.

Researchers set out to discover if certain genetic variants among this group of people could be linked to specific type 2 diabetes-related conditions.

Ultimately, three were linked to coronary heart disease, two to acute ischemic stroke, four to retinopathy, two to chronic kidney disease, and one to neuropathy, saidMarijana Vujkovic, PhD, a biostatistician at both the Perelman School of Medicine at the University of Pennsylvania, VHAs CMCVAMC and a co-leader for the VHAs national MVP Cardiometabolic Working Group.

Building on this research, the scientific community can assess which of the surrounding genes nearby the identified genetic variants is likely to be the causal gene that alters the risk of type-2 diabetes, and that could lead to early interventions to limit controllable risks of developing the condition.

While the researchers found many genetic variants in people with type 2 diabetes, no one variant was labeled as the worst or most dangerous.

However, just like heart disease, schizophrenia, or obesity, it is the accumulation of a large number of these variants that can add up to a considerable increase in risk, said co-senior authorBenjamin F. Voight, PhD, an associate professor of Systems Pharmacology and Translational Therapeutics at Penn, and a co-leader for the VHAs national MVP Cardiometabolic Working Group.

We hope this study can not only help find that subset of patients with substantial risk, but also to motivate new, future studies for treatments based on these findings.

Knowing more about the genetic variants linked to type 2 diabetes could help identify potential therapeutic targets for type 2 diabetes. Researchers also noted that this information could help guide treatment plans for people with the disease who may be susceptible to specific diabetes complications.

Going forward, the researchers plan to conduct a long-term examination of how genetics influence disease progression among patients with type 2 diabetes and associated metabolic disorders. The group is also leveraging the list of newly-discovered genes to investigate medication interactions.

Knowing the genetic susceptibility for diabetes complications in a patient already diagnosed with type-2 diabetes, for example through a cumulative genetic risk score, could help guide that patients care, said co-senior-authorKyong-Mi Chang, MD, a professor of Medicine at Penn, Associate Chief of Staff for Research at VHAs CMCVAMC and the Co-PI for the VHAs MVP Merit Award that supported this work.

As clinicians, we hope that these findings can ultimately be applied to improve the health outcomes for our patients including veterans.

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Researchers Discover Genetic Variants Linked to Type 2 Diabetes - HealthITAnalytics.com

Illumina announced today the launch of its TruSight Software Suite, a solution that aids in creating efficient workflows to help increase adoption of whole-genome sequencing and comes with the promise of significantly reducing the time from sample to answer from daysor even weeksto hours.

Developed in collaboration with researchers and clinicians at the Mayo Clinic, and other partners, Illumina says TruSight provides a turn-key solution to tackle the most critical, and challenging piece of incorporating whole-genome sequencing for the identification of rare genetic diseasesthe interpretation of millions of variants to rapidly identify the handful of relevant variants that are contributing to an individuals disease.

The new software suite can pull together the power of a range of offering from Illumina including the NovaSeq 6000, its DRAGEN Bio-IT Platform, and Illumina DNA PCR-Free Prep, which when taken together provides a complete whole-genome sequencing analysis workflow for curation and reporting of rare variants.

This combination of products will set the standard for scalable and swift interpretation of genomic information, enabling whole-genome sequencing to become the standard of care in rare diseases, said Ryan Taft, vice president of scientific research at Illumina in a press release. By enabling users to quickly sift through millions of variants to find an answer, we will make it easier for rare disease patients to benefit from valuable genomic insights.

The launch of the new workflow software comes as rare disease diagnosis and treatment is rapidly establishing itself as the second prominent area of precision medicine alongside cancer care. It is thought there could be as many as 7,000 rare diseases and, when considered as a group, these are estimated to affect between 25 million and 30 million people in the U.S. alone and more than 200 million globally.

While some rare genetic diseases require almost immediate attention after birth in order to provide any chance at effective treatment, as evidenced by the ongoing work of Dr. Stephen Kingsmore and colleagues at Rady Childrens Institute of Genomic Medicine, many more rare conditions are not life threatening. In these cases, the patients and their families often embark on a diagnostics odyssey one marked by referrals from one medical specialist to another and can often take as long as seven years before a diagnosis.

Between needing regular care and the battery of testing done for rare disease patients, it is estimated that in the U.S. alone the cost of pediatric genetic diseases total more than $57 billion every year. Broadening availability to whole-genome testing for patients with a suspect rare genetic disorder can help shorten the time to diagnosis and potentially save billions of dollars of healthcare costs.

The future of pediatric medicine will include whole-genome sequencings for suspectedgeneticdisorders, said William Morice, M.D., Ph.D., president, Mayo Clinic Laboratories, and department chair, laboratory medicine and pathology at Mayo Clinic. Enabling laboratories and physicians with access toefficient, clinical-gradewhole-genome sequencingsolutionsis essential.

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Illumina Intros Genomic Analysis Workflow Software to Speed Diagnosis of Genetic Conditions - Clinical OMICs News

Embryonic stem cells. The ethical issues associated with stem cell research could be resolved through the use of induced pluripotent stem cells, which are derived from fully committed and differentiated cells of the adult body

The almost miraculous benefits that stem cells may one day deliver have long been speculated on. Capable of becoming different types of cells, they offer huge promise in terms of transplant and regenerative medicine. It is, however, also a medical field that urges caution one that must constantly battle exaggeration. If stem cells do in fact hold the potential to reverse the ageing process, for example, then such breakthroughs remain many years away.

Recently, though, the field has had cause for excitement. In 2006, Japanese researcher Shinya Yamanaka discovered that mature cells could be reprogrammed to become pluripotent, meaning they can give rise to any cell type of the body. In 2012, the discovery of these induced pluripotent stem cells (iPSCs) saw Yamanaka and British biologist John Gurdon awarded the Nobel Prize in Physiology or Medicine. Since then, there has been much talk regarding the potential iPSCs possess, not only for the world of medicine, but for society more generally, too.

A big stepHistorically, one of the major hurdles preventing further research into stem cells has been an ethical one. Until the discovery of iPSCs, embryonic stem cells (ESCs) represented the predominant area of research, with cells being taken from preimplantation human embryos. This process, however, involves the destruction of the embryo and, therefore, prevents the development of human life. Due to differences in opinion over when life is said to begin during embryonic development, stem cell researchers face an ethical quandary.

The promise of significant health benefits and new revenue streams has led some clinics to offer unproven stem cell treatments to individuals

With iPSCs, though, no such dilemmas exist. IPSCs are almost identical to ESCs but are derived from fully committed and differentiated cells of the adult body, such as a skin cell. Like ESCs, iPSCs are pluripotent and, as they are stem cells, can self-renew and differentiate, remaining indefinitely propagated and retaining the ability to give rise to any human cell type over time.

One important distinction to make is that both ESCs and iPSCs do not exist in nature, Vittorio Sebastiano, Assistant Professor (Research) of Obstetrics and Gynaecology (Reproductive and Stem Cell Biology) at Stanford Universitys Institute for Stem Cell Biology and Regenerative Medicine, told The New Economy. They are both beautiful laboratory artefacts. This means that at any stage of development, you cannot find ESCs or iPSCs in the developing embryo, foetus or even in the postnatal or adult body. Both ESCs and iPSCs can only be established and propagated in the test tube.

The reason neither ESCs nor iPSCs can be found in the body is that they harbour the potential to be very dangerous. As Sebastiano explained, these cells could spontaneously differentiate into tumorigenic masses because of their intrinsic ability to give rise to any cell type of the body. Over many years of research, scientists have learned how to isolate parts of the embryo (in the case of ESCs) and apply certain culture conditions that can lock cells in their proliferative and stem conditions. The same is true for iPSCs.

To create iPSCs, scientists take adult cells and exogenously provide a cocktail of embryonic factors, known as Yamanaka factors, for a period of two to three weeks. If the expression of such factors is sustained for long enough, they can reset the programme of the adult cells and establish an embryonic-like programme.

Turning back the clockThere is already a significant body of research dedicated to how stem cells can be used to treat disease. For example, mesenchymal stem cells (usually taken from adult bone marrow) have been deployed to treat bone fractures or as treatments for autoimmune diseases. It is hoped that iPSCs could hold the key for many more treatments.

Global stem cell market:25.5%Expected compound annual growth rate (2018-24)$467bnExpected market value (2024)

IPSCs are currently utilised to model diseases in vitro for drug screening and to develop therapies that one day will be implemented in people, Sebastiano explained. Given their ability to differentiate into any cell type, iPSCs can be used to differentiate into, for example, neurons or cardiac cells, and study specific diseases. In addition, once differentiated they can be used to test drugs on the relevant cell type. Some groups and companies are developing platforms for cell therapy, and I am personally involved in two projects that will soon reach the clinical stage.

Perhaps the most exciting prospects draw on iPSCs regenerative properties. Over time, cells age for a variety of reasons namely, increased oxidative stress, inflammation and exposure to pollutants or sunlight, among others. All these inputs lead to an accumulation of epigenetic mistakes those that relate to gene expression rather than an alteration of the genetic code itself in the cells, which, over time, results in the aberrant expression of genes, dysfunctionality at different levels, reduced mitochondrial activity, senescence and more besides. Although the epigenetic changes that occur with time may not be the primary cause of ageing, the epigenetic landscape ultimately affects and controls cell functionality.

What we have shown is that, if instead of being expressed for two weeks we express the reprogramming factors for a very short time, then we see that the cells rejuvenate without changing their identity, Sebastiano said. In other words, if you take a skin cell and express the reprogramming genes for two to four days, what you get is a younger skin cell.

By reprogramming a cell into an iPSC, you end up with an embryonic-like cell the reprogramming erases any epigenetic errors. If expressed long enough, it erases the epigenetic information of cell identity, leaving embryonic-like cells that are also young.

Slow and steadyAs with any scientific advancement, financial matters are key. According to Market Research Engine, the global stem cell market is expected to grow at a compound annual growth rate of 25.5 percent between 2018 and 2024, eventually reaching a market value of $467bn. The emergence of iPSCs has played a significant role in shaping these predictions, with major bioscience players, such as Australias Mesoblast and the US Celgene, working on treatments involving this particular type of stem cell.

The business potential around stem cell research is huge, Sebastiano told The New Economy. [Particularly] when it comes to developing cell banks for which we have detailed genetic information and, for example, studying how different drugs are toxic or not on certain genetic backgrounds, or when specific susceptibility mutations are present.

Unfortunately, even as the business cases for iPSC treatments increase, a certain degree of caution must be maintained. The promise of significant health benefits and new revenue streams has led some clinics to offer unproven stem cell treatments to individuals. There have been numerous reports of complications emerging, including the formation of a tumour following experimental stem cell treatment in one particular patient, as recorded in the Canadian Medical Association Journal last year. Such failures risk setting the field back years.

The challenge for researchers now will be one of balance. The potential of iPSCs is huge both in terms of medical progress and business development but can easily be undermined by misuse. Medical advancements, particularly ones as profound as those associated with iPSCs, simply cannot be rushed.

Originally posted here:
Could induced pluripotent stem cells be the breakthrough genetics has been waiting for? - The New Economy

BOULDER, Colo.--(BUSINESS WIRE)--Edgewise Therapeutics, a biopharmaceutical company developing small molecule therapies for musculoskeletal diseases, today announced the appointment of Abby H. Bronson to the newly created position of Vice President, Patient Advocacy and External Innovation. Ms. Bronson will be responsible for leading patient advocacy and building key external relationships with the muscular dystrophy community with the goal of bringing patient insights into drug development. This comes at an important time as Edgewise prepares EDG-5506, the companys lead product candidate, for clinical development for Duchenne and Becker muscular dystrophy (DMD and BMD). Ms. Bronson brings a wealth of experience in the rare disease space, most recently serving as Senior Vice President of Research Strategy at Parent Project Muscular Dystrophy (PPMD), the largest patient centered advocacy organization devoted to finding a cure for Duchenne.

We are pleased to have Abby join our company as we advance our muscular dystrophy program and prepare EDG-5506 for clinical development, said Kevin Koch, Ph.D., President and Chief Executive Officer, Edgewise Therapeutics. Having a strong patient advocacy perspective and voice in the DMD community is integral to executing against our vision of creating novel drugs that will transform the lives of patients living with severe musculoskeletal diseases. Abby brings an extensive patient advocacy background and we are fortunate to have someone with her knowledge and passion for the patient community join our team.

Im excited to join the dedicated team at Edgewise and to support the advancement of EDG-5506, a potentially transformative product candidate in DMD, through meaningful engagement with the patient and scientific communities, said Ms. Bronson.

Ms. Bronson is a leader within the rare disease space and over her career has managed critical alliances and partnerships with academia, biopharmaceutical companies, National Institutes of Health (NIH)/federal programs, patient groups and other stakeholders. Most recently she worked at PPMD as Senior Vice President of Research Strategy where she led the Research Portfolio and built strong relationships with Duchenne academic and clinical researchers, industry and regulators to help incorporate the patient voice and improve drug development success in DMD. Prior to this, Ms. Bronson was at the NIHs Center for Advancing Translational Sciences, Division of Clinical Innovation where she was Director of Operations for the Clinical and Translational Science Awards Program. Additionally, Ms. Bronson held positions at Children's National Medical Center, where she managed the global development and execution of key translational and drug development initiatives in select rare diseases, focusing on Duchenne at the Research Center for Genetic Medicine; MedImmune (acquired by Astra-Zeneca), where she led marketing initiatives for Synagis (palivizumab) for RSV disease; Medtronic where she managed global product marketing for select medical devices; and Ciba-Geneva Pharmaceuticals (acquired by Novartis) where she was responsible for managing relationships with major managed care organizations and led sales and marketing initiatives for their cardiovascular franchise. Ms. Bronson received her M.B.A from The Wharton School, University of Pennsylvania and B.A. degree from the University of Vermont.

About Muscular Dystrophy

Muscular dystrophies are a group of genetic disorders associated with defects in the critical muscle-associated structural protein dystrophin or the sarcomere complex and are characterized by progressive muscle degeneration and weakness. In individuals with neuromuscular conditions such as Duchenne muscular dystrophy, muscle contractions lead to continued rounds of muscle breakdown that the body struggles to repair. Eventually, as patients age, fibrosis and fatty tissue accumulate in the muscle portending a steep decline in physical function that ends with mortality. There remains an unmet need for treatments that reduce muscle breakdown in patients with neuromuscular conditions. Arresting this amplified muscle response will have a dramatic effect on disease progression.

About Edgewise Therapeutics

Edgewise Therapeutics, founded in 2017 by Alan Russell, Ph.D., Peter Thompson, M.D. (Orbimed Advisors) and Badreddin Edris, Ph.D., (Springworks Inc.), is pioneering the development of first-in-class medicines for the treatment of high morbidity musculoskeletal diseases. Skeletal muscle is the largest organ system in the human body, regulating both force production to enable muscle contraction, locomotion, and postural maintenance and the metabolism of glucose, fatty and amino acids. By modulating these processes in skeletal muscle, we create therapeutic agents that will reduce muscle damage, normalize muscle function, decrease mortality and profoundly benefit our patients quality of life. To learn more, go to: http://www.edgewisetx.com

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Edgewise Therapeutics Appoints Abby H. Bronson, M.B.A., as Vice President, Patient Advocacy and External Innovation - Business Wire

Artificial intelligence (AI) is a growing market engulfing all the sectors, is showing no signs of slowing down, especially in healthcare.

FREMONT, CA: The usage of AI in healthcare is predicted to reach $6.8 billion by 2021. Companies and countries are seeing the value of focusing on AI research. Healthcare databases are usually complicated but are full of useful information that can be utilized for drug discovery and precision medicine. Adopting AI in healthcare can help in improving the organization of data as well as fast-paced research breakthroughs.

It is a well-known fact that personalized medicine creates better patient outcomes when treating cancer. Additionally, to detect cancer, AI technology shows promising possibilities when it comes to differentiating genetic mutations to allow for precision medicine. By being able to evaluate and pinpoint genetic mutations, oncologists can provide better treatment for their patients. Personalized, or precision medicine demands constant analysis of genetic mutations to discover new treatments. Leveraging AI tools like Machine Learning and big data can help streamline this data collection and even improve with drug discovery.

AI technology helps differentiate healthy versus cancer cells, determine genetic mutations, and help researchers develop cancer treatment drugs. The pharmaceutical company is teaming up with technology giants to apply AI tools to drug discovery efforts. Using big data and Machine Learning technology, researchers can now analyze vast amounts of data seeking new ways to apply gene therapy. By having these tools, the time it takes to make these discoveries could be drastically shortened, leading to faster drug discovery and development.

It is transparent that the adoption of AI in healthcare can provide many benefits to researchers, healthcare organizations, and patients. AI tools can aid in making breakthroughs in cancer diagnostics, as well as treatment in real-time. But precaution must be ensured so that the data is shared safely and accurately. There must always be a delicate balance of human touch and machine to help prescribe with care.

See Also:Top Drug Discovery and Development Solution Companies

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How Can AI Help in Oncology Assisting Diagnostics and Drug Discovery? - Healthcare Tech Outlook

A new research report published by Fior Markets with the titleGenomicsMarket by Product and Service (Systems & Software, Consumables, Services, Others), Technology, Application, End-User, Regions,and Global Forecast 2019-2026.

As per the report, theglobal genomics marketis expected to grow from USD 17.67 Billion in 2018 to USD 48.11 Billion by 2026, at a CAGR of 13.34% during the forecast period from 2019-2026. The North America region led the global demand for the genomics with a 39.47% share of market revenue in 2018. However, the Asia Pacific region is expected to grow at the fastest CAGR of 15.73% over the forecast period.

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Major players in the global genomics market are Thermo Fisher Scientific, Inc., Illumina, Inc., QIAGEN N.V., Agilent Technologies, Inc., Eurofins Scientific, BGI, GE Healthcare, Bio-Rad Laboratories, Inc., F. Hoffmann-La Roche Ltd., Oxford Nanopore Technologies, BGI, Danaher Corporation, Eppendorf, Pacific Biosciences, Foundation Medicine, Inc., Myriad Genetics, Inc. AstraZeneca, and among others. India and China have emerged as one of the fastest growing markets for the genomic research and diagnostics. Thus, major companies are increasingly focusing on expanding their footprint in the high growth markets. For instance Neuberg Diagnostics in 2018, launched advanced molecular diagnostics and Genomics testing laboratory at its Chennai, India division.

The product and services segment is divided into consumables, systems & software, services, and others. Due to rising utilization of consumables in the genomic research experiments, and growth in genomic research activities, the consumables segment led the global genomics market with a 34.59% share of market revenue in 2018. Technology segment is categorized into sequencing, microarray, PCR, nucleic acid extraction and purification, and others. Based on the factors such as technological advancement in the field of genomics and cost effectiveness of DNA amplification using PCR, the PCR technology dominated the genomics market with a 32.87% share of market revenue in 2018. Application segment is fragmented into diagnostics, drug discovery and development, personalized medicine, agriculture and animal research, and others. The diagnostics segment is anticipated to grow at the fastest CAGR of 15.21% over the forecast period. This increased market share can be attributed to the growing research activities on the genetic and oncological diseases coupled with significant decrease in the cost of sequencing.

Even though the factors such as growing institutional support for the genomic research projects, significant decrease in the sequencing costs coupled with increasing applications of genomics in the medicine, biotechnology, forensic sector are driving the global genomics market. The high cost of the genomic research equipment and lack of trained technicians are projected to hinder the growth of the market over the forecast period.

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About the report:The globalgenomics market is analysed on the basis of value (USD Billion), volume (K Units), export (K Units), and import (K Units). All the segments have been analyzed on global, regional and country basis. The study includes an analysis of more than 30 countries for each segment. The report offers in-depth analysis of driving factors, opportunities, restraints, and challenges for gaining the key insight of the market. The study includes porters five forces model, attractiveness analysis, raw material analysis, and competitor position grid analysis.

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Global Genomics Market is expected to grow at a CAGR of 13.34% during the forecast period from 2019- - PharmiWeb.com