Category Archives: Genetic Medicine

Yale School of Medicine and Yale New Haven Hospital today announced the start of Phase 3 of the Pfizer vaccine trial at the hospital. This groundbreaking study is intended to be one of several vaccine trials to be undertaken in the hopes of finding the most scientifically validated vaccine in the shortest amount of time.

The study is a collaboration between BioNTech SE and Pfizer using modified RNA. This is a novel way to create a vaccine for use in humans. Rather than using the part or whole of the actual virus in an inactive form to create immunity, this vaccine candidate uses a genetic code (modified RNA) to make the body generate proteins that resemble the SARS CoV-2 virus spike protein, thereby causing development of antibodies against it. Antibodies against the spike protein, a projection from the COVID virus that allows it to attack cells and infect a person, may block the infection from taking hold if the body comes in contact with the virus. In Phases 1 and 2 of the trial, this novel vaccine has proven safe and effective in generating an appropriate immune response. This third phase hopes to show that it can prevent infection.

I am very excited that Yale New Haven Hospital and the Yale Center for Clinical Investigation (YCCI) are undertaking this novel vaccine trial, said Principal Investigator Dr. Onyema E. Ogbuagu, YNHH Infectious Disease physician and associate professor of Medicine at Yale School of Medicine. The earlier trial phases have been very encouraging showing that when injected, the vaccine is tolerated well and generates the appropriate immune response that has the potential to protect humans from COVID-19.

The YCCI Cultural Ambassadors program is playing a large role in educating the public on clinical trials, building on past success to address cultural and operational issues to encourage a diverse and underserved patient population to participate. The Cultural Ambassador program is a partnership between YCCI, the Connecticut AME Zion Churches, and Junta for Progressive Action. Created 10 years ago, this group has had great success in engaging populations of color in clinical research. When we started talking about clinical trials in our community, people of color represented only 3%6% of the participants in clinical trials, said the Rev. Elvin Clayton, pastor, Walters Memorial AME Zion Church. Now we see between 30%-50% participation, and in some trials, over 80%.

The Cultural Ambassadors are now sharing information about the Pfizer COVID vaccine trial with the goal of ensuring that the final vaccine will be effective for everyone, regardless of their cultural or ethnic background. Our community has been disproportionately impacted by COVID-19, said the Rev. Dr. Leroy Perry, pastor of St. Stephens AME Zion Church. We will be working harder than ever to ensure that the underserved community has access to this clinical trial and when ready, the vaccine will be made affordable to those who are disproportionately affected.

The trial is a randomized placebo-controlled trial which means that of the planned nearly 30,000 enrollees, half will receive the vaccine and half will receive a placebo. If success is seen early on in the trial, all participants will be given the vaccine and all enrollees will be followed for two years. All participants must be healthy, willing to comply with scheduled visits and be between the ages of 18 and 85 years. To learn more about the trial or to sign up to participate, visit the Clinical Trials at Yale website.

This vaccine trial is yet another example of the importance of academic medical centers, said Dr. Thomas Balcezak, executive vice president and chief clinical officer, Yale New Haven Health. Our partnership with the Yale School of Medicine and YCCI creates opportunity to bring cutting-edge care and therapeutics to our community.

This vaccine is being developed at a record rate due to the rapid proliferation of COVID-19 around the globe. But despite the pace, there will be no sacrifice to safety, which is forefront in the minds of the research team, YNHH and YCCI. Prior to COVID-19, the fastest development of a vaccine was to inoculate against the mumps, which took four years.

See more here:
Yale and Yale New Haven Hospital begin Phase 3 trial of COVID-19 vaccine - Yale News

Aug. 21, 2020 13:07 UTC

For the first time, up to 10,000 people in Europe ages 12 years and older with one F508del mutation and one minimal function mutation will be eligible for a medicine that treats the underlying cause of cystic fibrosis

People 12 years of age and older who have two F508del mutations will also be eligible for the new triple combination regimen

LONDON--(BUSINESS WIRE)-- Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that the European Commission (EC) has granted marketing authorization for KAFTRIO (ivacaftor/tezacaftor/elexacaftor) in a combination regimen with ivacaftor to treat people with cystic fibrosis (CF) ages 12 years and older with one F508del mutation and one minimal function mutation (F/MF), or two F508del mutations (F/F) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

For the first time, up to 10,000 people in Europe ages 12 years and older with CF who have one F508del mutation and one minimal function mutation will be eligible for a CFTR modulator that treats the underlying cause of the disease. Approval of the triple combination regimen also expands the number of treatment options available to people ages 12 years and older with CF who have two copies of the F508del mutation, the most common CF-causing mutation worldwide.

Today is a significant day for those with CF, their families and Vertex, and one that brings us one step closer towards our ultimate goal of discovering and developing treatments for all patients with CF, said Reshma Kewalramani, M.D., Chief Executive Officer and President, Vertex. I would like to thank our dedicated scientists, as well as study investigators and people with CF who participated in our clinical trials to enable this innovative medicine to be approved in Europe today. Without their commitment, this milestone would not have been possible.

As a result of long-term reimbursement agreements in England, Denmark and the Republic of Ireland, and provisions for access in health care systems such as Germany, eligible patients in these countries will have access to the triple combination regimen in the upcoming weeks. Vertex is committed to working closely with national health authorities and governments in all other countries in Europe to secure access for eligible patients as quickly as possible.

Marketing authorization was based on the results of two global Phase 3 studies, which showed statistically significant and clinically meaningful improvements in lung function (primary endpoint) and all key secondary endpoints, in people with CF ages 12 years and older with one F508del mutation and one minimal function mutation or two F508del mutations in the CFTR gene. The triple combination regimen was generally well tolerated in both studies.

The triple combination regimen has been shown to have a major impact on several outcome measures in people with CF, said Professor Harry Heijerman, Professor and Head of the Department of Pulmonology at University Medical Center Utrecht, Netherlands. The clinical data showed significant improvements in lung function and other important measures, such as sweat chloride levels and quality of life as measured by the CFQ-R respiratory domain score, in patients treated with the triple combination therapy. I now look forward to seeing the impact of the medicine in clinical practice.

About Cystic Fibrosis

Cystic Fibrosis (CF) is a rare, life-shortening genetic disease affecting approximately 75,000 people worldwide. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes one from each parent to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.

About KAFTRIO (ivacaftor/tezacaftor/elexacaftor) in a Combination Regimen With ivacaftor

KAFTRIO (ivacaftor/tezacaftor/elexacaftor) in a combination regimen with ivacaftor 150 mg was developed for the treatment of cystic fibrosis (CF) in patients ages 12 years and older with one F508del mutation and one minimal function mutation (F/MF) or two F508del mutations (F/F) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. KAFTRIO is designed to increase the quantity and function of the F508del-CFTR protein at the cell surface. The EU submission for KAFTRIO was supported by positive results of two global Phase 3 studies in people ages 12 years and older with CF: a 24-week Phase 3 study in 403 people with one F508del mutation and one minimal function mutation (F/MF) and a four-week Phase 3 study in 107 people with two F508del mutations (F/F).

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America,Europe,AustraliaandLatin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, statements made by Dr. Reshma Kewalramani and Professor Harry Heijerman in this press release, statements regarding the eligible patient population in Europe, our expectations regarding the timing of access to the triple combination regimen across countries in Europe, and our plans to secure access to our medicine for additional patients in Europe. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, risks related to commercializing medicines in Europe, and other risks listed under Risk Factors in Vertex's annual report and subsequent quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

View source version on businesswire.com: https://www.businesswire.com/news/home/20200821005298/en/

Link:
European Commission Approves KAFTRIO (ivacaftor/tezacaftor/elexacaftor) in Combination With Ivacaftor to Treat Cystic Fibrosis in People Ages 12 Years...

Sarepta Therapeutics Inc. (SRPT) is priced at $140.97 after the most recent trading session. At the very opening of the session, the stock price was $144.00 and reached a high price of $144.345, prior to closing the session it reached the value of $148.66. The stock touched a low price of $138.71.

Recently in News on August 11, 2020, Sarepta Therapeutics and University of Florida Announce Collaboration to Accelerate the Discovery and Development of Therapies for Rare Genetic Diseases. Sarepta Therapeutics Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, and the University of Florida today announced a strategic collaboration to enable cutting-edge research for novel genetic medicines. Through the agreement, Sarepta will fund multiple research programs at the University, and will have an exclusive option to further develop any new therapeutic compounds that result from the funded research programs. You can read further details here

Sarepta Therapeutics Inc. had a pretty favorable run when it comes to the market performance. The 1-year high price for the companys stock is recorded $175.00 on 07/20/20, with the lowest value was $78.06 for the same time period, recorded on 03/18/20.

Price records that include history of low and high prices in the period of 52 weeks can tell a lot about the stocks existing status and the future performance. Presently, Sarepta Therapeutics Inc. shares are logging -19.45% during the 52-week period from high price, and 95.66% higher than the lowest price point for the same timeframe. The stocks price range for the 52-week period managed to maintain the performance between $72.05 and $175.00.

The companys shares, operating in the sector of Healthcare managed to top a trading volume set approximately around 1160694 for the day, which was evidently higher, when compared to the average daily volumes of the shares.

When it comes to the year-to-date metrics, the Sarepta Therapeutics Inc. (SRPT) recorded performance in the market was 9.25%, having the revenues showcasing -3.27% on a quarterly basis in comparison with the same period year before. At the time of this writing, the total market value of the company is set at 11.21B, as it employees total of 743 workers.

During the last month, 19 analysts gave the Sarepta Therapeutics Inc. a BUY rating, 2 of the polled analysts branded the stock as an OVERWEIGHT, 1 analysts were recommending to HOLD this stock, 0 of them gave the stock UNDERWEIGHT rating, and 0 of the polled analysts provided SELL rating.

According to the data provided on Barchart.com, the moving average of the company in the 100-day period was set at 144.54, with a change in the price was noted +42.45. In a similar fashion, Sarepta Therapeutics Inc. posted a movement of +43.09% for the period of last 100 days, recording 852,747 in trading volumes.

Total Debt to Equity Ratio (D/E) can also provide valuable insight into the companys financial health and market status. The debt to equity ratio can be calculated by dividing the present total liabilities of a company by shareholders equity. Debt to Equity thus makes a valuable metrics that describes the debt, company is using in order to support assets, correlating with the value of shareholders equity The total Debt to Equity ratio for SRPT is recording 0.67 at the time of this writing. In addition, long term Debt to Equity ratio is set at 0.67.

Raw Stochastic average of Sarepta Therapeutics Inc. in the period of last 50 days is set at 6.23%. The result represents downgrade in oppose to Raw Stochastic average for the period of the last 20 days, recording 10.00%. In the last 20 days, the companys Stochastic %K was 21.79% and its Stochastic %D was recorded 31.90%.

Considering, the past performance of Sarepta Therapeutics Inc., multiple moving trends are noted. Year-to-date Price performance of the companys stock appears to be pessimistic, given the fact the metric is recording 9.25%. Additionally, trading for the stock in the period of the last six months notably improved by 13.70%, alongside a boost of 38.89% for the period of the last 12 months. The shares increased approximately by -11.34% in the 7-day charts and went up by -14.31% in the period of the last 30 days. Common stock shares were lifted by -3.27% during last recorded quarter.

Continued here:
Analysts Mean recommendation for Sarepta Therapeutics Inc. (SRPT) was 1.70: Is this the key time? - The InvestChronicle

Newswise Irvine, CA August 21, 2020 A new study finds women with diabetes and significant levels of calcium in their coronary arteries have higher rates of death from cardiovascular disease and all causes than their male counterparts.

Published in the American Diabetes Association journal, Diabetes Care, researchers from the University of California, Irvine School of Medicine and Cedars-Sinai Medical Center compared the sex-specific impact of coronary artery calcium (CAC) levels in adults with diabetes. CAC was used to predict cardiovascular and all-cause mortality in patients with diabetes. The results of this comparison showed greater CAC predicts cardiovascular and total mortality more strongly in women.

We showed that coronary calcium scores of greater than 100 in a woman with diabetes was associated with higher death rates from cardiovascular diseases and all causes than similar calcium scores in women than in man with diabetes, said Nathan D. Wong, PhD, professor and director for UCIs Heart Disease Prevention Program, and the lead author for the study.

Wong and colleagues studied 4,503 adults with diabetes from a national registry of patients who received coronary calcium heart scans from computed tomography and were followed for causes of death over more than 11 years. Death rates from cardiovascular disease in those who had coronary calcium scores of 101-400 or more, were approximately twice as high in women compared to men. Total death rates in these patients were also higher in women than in men. In analyses adjusted for age and other potential confounders, compared to those with calcium scores of 0, women who had calcium scores of 101-400 and 401 or greater had cardiovascular deaths that were 3.7 and 6.3-fold greater, respectively, compared to men whose risks were 1.6 and 3.5-fold greater, respectively.

Our findings, showing significant levels of coronary calcium to predict mortality from cardiovascular causes more strongly in women than men with diabetes, might also help to explain the poorer prognosis for cardiovascular disease that has been observed for decades in women compared to men with diabetes, said Wong.

Conversely, very low death rates from coronary heart disease and cardiovascular disease seen in those with diabetes who had negative scans (calcium scores of 0), comprising 39 percent of women and 20 percent of men in our study, underscore the point that not all persons with diabetes are risk equivalents for cardiovascular disease, as has been the common belief for decades, noted Cedars-Sinai Medical Centers Daniel Berman, MD, senior author of the study.

Our findings suggest a call-to-action for even more aggressive risk factor management in a woman with diabetes found to have significant levels of coronary calcium to prevent future death from cardiovascular causes said Wong. Previous research conducted by Wong and colleagues, has shown rates of cardiovascular disease to be 60 percent lower in those who are well-controlled for blood sugar, cholesterol, and blood pressure.

The study population was part of the CAC Consortium, directed by Michael Joseph Blaha, MD, MPH, from Johns Hopkins School of Medicine. UCIs Amber Cordola-Hsu, PhD, co-led the study with Wong.

This study was funded in part by the National Institutes of Health and the American Heart Association.

About the UCI School of Medicine

Each year, the UCI School of Medicine educates more than 400 medical students, and nearly 150 doctoral and masters students. More than 700 residents and fellows are trained at UCI Medical Center and affiliated institutions. The School of Medicine offers an MD; a dual MD/PhD medical scientist training program; and PhDs and masters degrees in anatomy and neurobiology, biomedical sciences, genetic counseling, epidemiology, environmental health sciences, pathology, pharmacology, physiology and biophysics, and translational sciences. Medical students also may pursue an MD/MBA, an MD/masters in public health, or an MD/masters degree through one of three mission-based programs: the Health Education to Advance Leaders in Integrative Medicine (HEAL-IM), the Leadership Education to Advance Diversity-African, Black and Caribbean (LEAD-ABC), and the Program in Medical Education for the Latino Community (PRIME-LC). The UCI School of Medicine is accredited by the Liaison Committee on Medical Accreditation and ranks among the top 50 nationwide for research. For more information, visit som.uci.edu.

###

View post:
UCI study finds women with diabetes and high levels of coronary artery calcium at greater risk of death than men - Newswise

1. Reduced physical activity as a result of COVID-19 related restrictions may be associated with higher levels of stress and anxiety.

2. Relationships between perceived activity level, stress, and anxiety are confounded by genetic and environmental factors in addition to age and sex.

Evidence Rating Level: 2 (Good)

Due to the Covid-19 pandemic, restrictions have been in place worldwide to limit the spread of the virus. Some of these restrictions also limit the opportunity for physical activity, such as the closure of athletic facilities and shelter-in-place orders. Since past research has associated lack of physical activity to poorer mental health, there is a growing need for empirical research regarding the restrictions effect on physical and mental health outcomes. The aim of this study was to investigate the association between perceived alterations in physical activity (due to the restrictions) and mental health. The study population was 3,971 adults taken from a twin registry in Washington State, including 909 same-sex twin pairs. Twins were used in this study to control for genetic and shared environmental factors, as changes in perceived physical activity were anticipated to be stemming from non-shared environmental factors. Participants completed an online survey which assessed perceived changes in physical activity (increased, decreased, or stayed the same), stress (using the 5-point Likert-type Perceived Stress Scale), and anxiety (using the Brief Symptom Inventory, also on a 5-point scale). The study found that there was no association between physical activity and mental health, in twins who reported an increase or no change in activity (stress: b = 0.089, SE = 0.060, p = 0.139; anxiety: b = 0.117, SE = 0.079, p = 0.141). For twins reporting a decrease or no change in activity, there was a significant association between activity and stress before controlling for the confounding variables (b = 0.036, SE = 0.010, p < 0.001). After controlling for genetics and shared environment though, the association was non-significant (b = 0.017, SE = 0.010, p = 0.090). For twins reporting decreased or no change in activity, the association with anxiety was significant before controlling (b = 0.143, SE = 0.039, p < 0.001), was still significant after controlling for genetics and shared environment (b = 0.134, SE = 0.042, p = 0.002), but was ultimately non-significant after controlling for age and sex, as older twins were more likely to report lower anxiety levels and females more likely to report higher anxiety levels (b = 0.150, SE = 0.106, p = 0.158). Overall, decreased perceived physical activity was linked to higher stress and anxiety, although the association with stress was confounded by genetics and shared environment, and anxiety with age and sex. This study demonstrates that the restrictions in place to protect public health could potentially be detrimental to physical and mental health, which has implications for potential interventions targeted at improving peoples well-being while restrictions are still in place.

Click to read the study in PlosONE

Image: PD

2020 2 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.

More here:
Reduced physical activity from COVID-19 related restrictions may be linked to higher stress and anxiety levels - 2 Minute Medicine

BETHESDA, Md., July 8, 2020 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) announced today that the 2019 Journal Impact Factors, published by Clarivate Analytics in the latest edition of Journal Citation Reports, calculated an impact factor of 8.904 for ACMG's official journal, Genetics in Medicine (GIM). This is the second highest Impact Factor in the journal's history and ranks GIM 13th of 177 titles in the Genetics & Heredity category.

The Impact Factor is an objective measure of the world's leading journals, based on articles' cited references and is oft considered a measure of a journal's impact, overall successful performance and relevance to its field. The most highly cited article in GIM in 2019 was "Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing, 2016 Update (ACMG SF v2.0): A Policy Statement of the American College of Medical Genetics and Genomics."

"GIM's editors and editorial staff are delighted that our Impact Factor has increased from last year. This improvement in the Impact Factor once again demonstrates that the journal remains one of the most widely read and cited journals publishing clinically relevant research in the life sciences," said GIM's Editor-in-Chief Robert D. Steiner, MD, FAAP, FACMG."We are most thankful to the peer reviewers who put in countless hours to help maintain the outstanding quality of articles and the authors who trust us to disseminate their groundbreaking scholarly work. The Impact Factor is one of a number of metrics used to evaluate journals, and a journal should not be evaluated solely on that one metric. Genetics in Medicine'scontinued success and relevance is also reflected in our very high overall downloads and reads as well as a prominent social media presence."

ACMG CEO Maximilian Muenke, MD, FACMG said, "As the CEO of the ACMG, I am extremely proud of 'our' journal. As a physician-scientist who before joining ACMG worked in academic settings where publishing in high-impact factor journals was the goal, I am well aware of the importance of this metric. My congratulations and gratitude on increasing GIM's impact factor go to Bob Steiner, Jan Higgins, the GIM staff and the entire editorial team to make this success happen!"

Genetics in Medicineis published by Springer Nature. The journal, published since 1998, is supported by an expert board of editors representing all facets of genetic and genomic medicine, including biochemical and molecular genetics, cytogenetics, and the application of genetics and genomics to other medical specialties such as oncology, cardiology, neurology, pediatrics, ophthalmology and maternal-fetal medicine.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics, and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,300 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Kathy Moran, MBAkmoran@acmg.net

Visit link:
ACMG's Genetics in Medicine Journal Receives Impact Factor of 8.904 for 2019--Journal is Ranked 13th of 177 Journals in Genetics & Heredity -...