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

Researchers at Mayo Clinic's Center for Individualized Medicine have discovered a rare genetic variant that can directly cause metabolic dysfunction-associated steatotic liver disease, formerly ...

By investigating the fundamental risk factors that may influence certain men inheriting testicular cancer, the study reveals new insights into how rare genetic variants may contribute to ...

Scientists from The Hospital for Sick Children (SickKids) and the University of Las Vegas, Nevada (UNLV) have uncovered a genetic link between autism spectrum disorder (ASD) and a rare genetic ...

Blanchard was first diagnosed with microdeletion 1Q21.1 in 2012 Gypsy-Rose Blanchard/Instagram Gypsy-Rose Blanchard's daughter has not inherited the rare genetic condition that she has.

“We're overjoyed to share that our sweet girl, Aurora, has tested negative for the rare genetic condition known as microdeletion 1q21.1,” Gypsy Rose wrote in a post on Instagram April ...

Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities, according to the NHS. It is diagnosed through genetic testing to ...

This rare genetic disorder manifests through unpredictable and potentially dangerous swelling episodes that can affect various body parts. The condition impacts approximately 1 in 50,000 ...

Angelman syndrome is a rare genetic disorder that mainly affects the nervous system and causes developmental delays, speech difficulties, and movement problems. The condition has recently gained ...

Angelman syndrome is a rare disorder that affects the nervous system and causes developmental delays amongst other issues. Last year, Farrell launched a foundation to provide support for people ...

Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities, according to the NHS. It is diagnosed through genetic testing to see ...