Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

Researchers identify genetic mutation in small group of people who developed the serious disorder after receiving the AstraZeneca or Johnson & Johnson vaccine.

A whole lot more than just one genetic mutation determines whether and how disease develops. lvcandy/DigitalVision Vectors via Getty Images Genetic inheritance may sound straightforward: One gene ...

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

With a shared purpose, we can realize the true promise of CRISPR and improve healthcare, providing hope to more patients with ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

Santhosh Girirajan receives funding from the National Institutes of Health. Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, ...