People with hypertrophic cardiomyopathy (HCM) — often an inherited disease marked by abnormally thickened heart muscle — face a looming risk of heart failure, arrhythmia, and sudden cardiac arrest.

Genetics research in Parkinson's disease has identified over 100 risk loci, yet translating these findings into understanding ...

The study of cacao genetics has provided profound insights into the domestication, diversity and disease resistance mechanisms of Theobroma cacao. Recent advances in genomic sequencing and mapping ...

Clinicians’ ability to diagnose and treat chronic diseases is limited by scientific uncertainty around factors contributing ...

Since James Parkinson first described his eponymous disease, our knowledge of its pathophysiology has grown enormously. However, in clinical settings, many of the original concepts remain in use, and ...

GeneDx CEO Katherine Stueland explains how her company screens babies’ DNA for mutations that cause thousands of treatable ...

Discover how in some communities around the world, the prevalence of rare diseases is higher due to factors like cousin ...

A novel treatment for Leber's Hereditary Optic Neuropathy (LHON), a rare genetic disease that can lead to sudden loss of ...

An international team of researchers led by Icahn School of Medicine at Mount Sinai and the University of Copenhagen in ...

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...

Huntington’s disease (HD) is one of those rare conditions that affects not just the patient but the entire family—medically, emotionally and genetically. This inherited brain disorder causes gradual ...