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Published on December 30, 2022
Primera Therapeutics, the first launch from cell and gene therapy (CGT) accelerator Mayflower BioVentures, announced it has signed a collaborative agreement with Cellectis that will see the two companies will work to develop gene editing methods for mutations in mitochondrial DNA (mtDNA) as potential in vivo therapies to treat mitochondrial…
Published on December 20, 2022
With sequencing costs reportedly dropping to as low as $100 a genome, today’s medicine can enhance biological outcomes by harnessing data on genetic variation. A wealth of information on humanity’s responses to problems faced by some or all groups, such as aging, infectious diseases, diet, exercise, and smoking, is stored…
Published on August 5, 2022
A study published in the journal Science has challenged the idea that heart failure results from a common disease pathway, suggesting instead that individual genetics comes into play. The research revealed that genetic variants activate specific pathways in cardiomyopathies, some shared and some distinct, that resulted in different cellular landscapes…
Published on June 17, 2022
New European recommendations stress the value of cardiac genetic testing in athletes but also outline its limitations and the importance of counseling before and afterwards. High-level exercise can lead to structural and electrical changes in the heart that can mimic inherited cardiac conditions, explain the researchers. This ‘grey zone’ can…
Published on January 25, 2022
Researchers at the University of Utah (U of U) Health have shown that artificial intelligence (AI) could help predict the onset and course of different cardiovascular diseases. These types of conditions are normally diagnosed using an array of laboratory tests and imaging studies. The primary part of diagnosis is medical…
Published on December 9, 2021
Researchers have linked a rare genetic mutation in TTR V142I, which affects mostly people of African descent, to an earlier onset of heart failure and a higher risk of hospitalization. The findings suggest screening for the mutation could lead to faster treatment and improved outcomes, the researchers said. The results…
Published on December 1, 2021
Cell-free (cf)DNA based non-invasive prenatal testing (NIPT) hit a milestone last August when the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine recommended it should be offered to all pregnant women regardless of their age or risk status. Since being introduced commercially 10 years ago,…
Published on July 28, 2021
A protein that helps regulate calcium signaling within heart cells could play a key role in preventing chronic heart failure, and could therefore be a good target for drug development, according to an international study led by University of Utah Health scientists. Voltage dependent anion channel 2 (VDAC2) is an…
Published on July 16, 2021
Rady Children’s Institute for Genomic Medicine announced this week that it will partner with Takeda to develop targeted therapeutics for rare genetic diseases. The San Diego based institute is part of Rady Children’s Hospital-San Diego and is well known for its ground-breaking research on rare genetic diseases. It also provides…
Published on June 28, 2021
A team of researchers based in the U.S., the U.K., and New Zealand from Intellia Therapeutics, Regeneron Pharmaceuticals, and clinical partners showed in a study that the companies’ lead in vivo genome editing candidate NTLA-2001 generated a dose-dependent sustained reduction of protein linked to transthyretin (ATTR) amyloidosis following a single…
Published on June 18, 2021
Using a multi-stranded, computer-based approach encompassing genetic and chemical information, clinical data, and the medical literature can help improve outcomes for individuals with inherited cardiomyopathy, according to an international group of researchers. Many cardiovascular conditions have a genetic basis and inherited cardiomyopathy, where abnormal changes in the heart muscle can…
Published on May 27, 2021
Spanish scientists have discovered a biomarker, a type of microRNA, that can be used to distinguish patients with myocarditis from those who have had a myocardial infection, something that could help improve treatment for this condition. Myocarditis, also known as inflammatory cardiomyopathy, is caused by inflammation of the heart muscle,…
Published on January 26, 2021
A study carried out at the University of Oxford has uncovered 12 regions of the genome that have significant levels of mutation in people with hypertrophic cardiomyopathy, a common, inherited heart condition. The researchers used their findings to create a genetic risk score based on 27 different single nucleotide polymorphisms…
Published on November 5, 2020
A gene mutation in the cystic fibrosis gene may explain why some people with Duchenne Muscular Dystrophy (DMD) experience cardiac problems at an earlier stage to others according to research from the University of Texas Southwestern Medical Center, which could help clinicians to better personalize treatment for these patients. DMD…
Published on August 4, 2020
The very first woman to make a breakthrough that has influenced precision medicine was Rosalind Franklin via the famous Photo 51, an x-ray defraction image taken under her direction by one of her graduate students that showed the exquisite structure of DNA. Shown to James Watson without her knowledge, the…