Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders ...

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) can have the same genetic cause, a discovery that won ...

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 ...

In PEOPLE's exclusive clip from ‘One Day in My Body,’ Portia Cina, 18, shares her experience living with ichthyosis 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 ...

Genetic mutations and DNA changes can lead to several health conditions, ranging from mild to life-threatening disorders.

Six-Month Clinical Data Demonstrate Restoration of Cone-Mediated Vision in Pediatric LCA5 Patients, with Sensitivity Improvements Reaching Normal ...

Affected populations: POLG-related diseases are a group of rare, incurable conditions caused by inherited gene mutations. These disease-causing mutations are carried by up to 2% of people of Northern ...

Sperm from a single donor in Europe has reportedly been used to conceive at least 67 pregnancies, although the donor carried a rare cancer-causing mutation. The donor’s mutation has been linked to ...