An mRNA signature has been uncovered that predicts hypertrophic cardiomyopathy, according to new research from the Nantong University in China. Their study used sequencing data and machine learning to find the signature, which includes FCN3, MYH6, and RASD1.  Early detection of Hypertrophic cardiomyopathy (HCM) is important because this condition can…

Researchers at Harvard may have discovered the molecular basis that can lead to cardiomyopathy in patients, as well as a new drug to treat this genetic conditions. Cardiac cells, also known as cardiomyocytes, are unique muscular cells in the body, in that they will repeatedly contract, without rest, over the…

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…

Researchers have found that the eye can provide a window into many different diseases, with thinner retinal layers having a genetic basis and an association with ocular and cardiometabolic diseases as well as neuropsychiatric conditions. The findings suggest that markers for systemic and ocular health could be developed from optical…

Researchers have revealed how long sections of RNA that do not encode proteins can nonetheless impact on tissue function through their spatial position on chromosomes, which could have applications in targeting disease. Protein-coding genes account for less than two percent of the human genome and a large proportion of genetic…

What should doctors do when patients have “incidental” findings of important variants related to cardiovascular disease?  This is an increasingly important question as genome screens become more common both in the clinic and on the consumer market. A new scientific statement, published today in Circulation: Genomic and Precision Medicine, aims…

The Genotype and Phenotype Database of Monogenic Cardiovascular Disease, or CardioGen, has been established by China’s BGI Genomics, together with the National Center for Cardiovascular Diseases, Fuwai Hospital, and the State Key Laboratory of Cardiovascular Diseases. CardioGen collects and integrates information about gene-causing diseases and clinical phenotype information of patients found in…

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…

SARS-CoV-2 causes infection primarily by binding to the human angiotensin-converting enzyme 2 (ACE2) receptor in the upper respiratory epithelium and lungs. However, nearly 20% of all COVID-19-associated deaths are from cardiac complications.  There is much debate about how such complications arise, how to treat them, and whether patients already taking…

Precision medicine developer MyoKardia said it will partner with 23andMe to create a digital community designed to enable patients to access information and research opportunities in hypertrophic cardiomyopathy (HCM). Through their collaboration, whose value was not disclosed, the companies plan to launch next year a community designed to improve understanding…

When President Obama announced the Precision Medicine Initiative at the State of the Union in 2015, it recognized more than a decade of work that scientists and medical researchers had already committed to identifying the underlying genetic causes of diseases and specific pathways to treatment. To date, there have been…

Agena Bioscience said today it will co-promote its MassARRAY® DX clinical diagnostics technology with HeartGenetics' CE-IVD marked products for cardiovascular testing, through a co-marketing alliance whose value was not disclosed. Agena’s MassARRAY DX, which is also CE-IVD marked, is a non-fluorescent detection platform utilizing mass spectrometry to accurately measure PCR-derived…