Discover how cystic fibrosis genetics affect inheritance patterns and symptom. Learn about CFTR mutations, testing options, ...

MODY 5 is a rare genetic diabetes subtype caused by HNF1B mutations or deletions, often presenting with early-onset diabetes and kidney, liver, or pancreatic abnormalities. Accurate genetic diagnosis ...

In a nutshell Researchers analyzed over 4,000 proteins in the cerebrospinal fluid of people with genetic forms of ...

A new study has revealed a set of proteins in the cerebrospinal fluid that could help identify frontotemporal dementia (FTD) ...

However, this trait is one of the most common signs of frontotemporal dementia (FTD) — the most common neurodegenerative disease in people under the age of 65. In his new book, Mysteries of the Social ...

New research published in Nature Communications into hidden mutations in mitochondrial DNA has uncovered how high mutational ...

The personalized CRISPR treatment could be the future of gene therapy, but hurdles remain before everyone has access.

Readers respond to an article about gene editing and object to cuts in research funding. Also: The Covid vaccine; Senator ...

A team of scientists from the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy, has identified a ...

Doctors use biomarkers to assess a person's health, diagnose and monitor disease progression, and determine how a person's ...