Modern HIV medicine is based on a common genetic mutation. Now, researchers have traced where and when the mutation arose—and ...

People with diseases caused by rare mutations have fewer options and poorer prospects than other patients despite rapid ...

The mitochondrial genome can help researchers map ancestry and better understand the inheritance of mitochondrial diseases.

A groundbreaking DNA study reveals how genetic mutations pass through generations, offering new insights into disease and ...

Mitochondrial diseases affect approximately 1 in 5,000 people worldwide, causing debilitating symptoms ranging from muscle ...

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, ...

The slow loss of memory, thinking, and independence that defines Alzheimer’s disease continues to affect millions worldwide.

In a major scientific breakthrough, researchers at Mayo Clinic’s Center for Individualized Medicine have identified a rare ...

A group of researchers in the lab of Prof. Lucía Chávez Gutiérrez (VIB-KU Leuven) has unraveled the genetic contributions to ...

Failure of a gene-reading quality-control mechanism called Integrator leaves cells littered with abnormal RNA strands that ...

A groundbreaking discovery from Israeli scientists is changing what doctors know about inherited heart disease. Researchers ...

She has the most common fatal genetic disease in the U.S., which afflicts 40,000 Americans. But her case is caused by a rare genetic mutation, so medications that work for 90% of people with ...