Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in lack of an enzyme.

Scientists from The Hospital for Sick Children (SickKids) and the University of Las Vegas, Nevada (UNLV) have uncovered a ...

Autism, a complex neurodevelopmental condition, may be 14 times more likely in individuals with the rare genetic disorder DM1 ...

But on top of all that, she was born with three holes in her heart and has an unnamed genetic disorder ... knows that she's different from other people, but that difference is a gift," Slack ...

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

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper explains how monogenic and polygenic factors converge on key growth ...

Luke's parents are taking him on sightseeing trips as his genetic disorder slowly causes blindness. PHOENIX — It’s a powerful ...

Researchers at the Garvan Institute of Medical Research have launched the Genomics of Rare Disease Registry, to help improve ...

RFK Jr. has promised to find the "cause" of the "autism epidemic" by September. Many people in the autism community are offended by his rhetoric.

Although sedentary behavior may be an evolutionarily selected trait, it is still important to try to be physically active, says a new study. Researchers have shown for the first time that genetic ...

Sickle cell is the most common genetic blood disorder in the UK with approximately 17,500 people living with the condition. The disease which typically affects people of African and Caribbean ...