Explore GISTs, rare GI tumors. Discover key details on genetic causes, diagnostic methods, and cutting-edge treatment ...

Discover the main types of deafness, their causes and how half a million Americans navigate communication challenges through ...

What your ear features reveal about heart health risks. Discover how subtle ear characteristics might indicate potential ...

This rare genetic condition causes hyperflexible joints, fragile skin, and possibly other symptoms, depending on which of 13 ...

Researchers from the Epilepsy Neurogenetics Initiative (ENGIN) at Children's Hospital of Philadelphia (CHOP) have completed a comprehensive natural history study of SCN8A-related disorders, which ...

Researchers have completed a comprehensive natural history study of SCN8A-related disorders, which represent a spectrum of neurological symptoms. The study, using retrospective clinical information ...

Researchers from the Epilepsy Neurogenetics Initiative (ENGIN) at Children's Hospital of Philadelphia (CHOP) have completed a ...

About the expert Adrienna Jirik, MD, is a board-certified gastroenterologist at Cleveland Clinic, where she has been providing care since 2016. She completed advanced fellowships in ...

"Whatever your level is when you're 24 years old is the level when you're 64 years old – it doesn't change, because it's genetic." The European Society of Cardiology and the National Lipid ...

ACMG, NSGC, and others in the genetics community are monitoring whether the widely used online clinical genetics database could be at risk.

Results of user and usability testing of Alex, a chatbot for patient education on genetics and testing were presented at the 50th Annual ONS Congress.

RNU4-2 / ReNU syndrome and RNU2-2 syndromes share similarities, but patients with RNU2-2 syndrome tend to ... They include conditions such as intellectual disability, autism spectrum disorder, and ...