Then, starting with a landmark publication in Cell in 1990, Harvard Medical School researchers uncovered critical insights into the genetic and molecular underpinnings of the disease. Their federally ...

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 ...

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

In a major step toward treating rare neurological diseases, scientists have used gene editing to correct mutations inside the ...

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

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 ...

Sudden heart attacks in children and teens are rising and cause concern amongst parents. Early genetic testing offers a ...