"Other children didn't want to sit next to me,' " Amit Ghose, an advocate for people with visible differences, shared ...

University of Otago – Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children ...

A rare genetic disorder discovered by UT Southwestern Medical Center researchers and their colleagues can cause brain damage from dangerously low blood sugar levels and liver damage in infants, along ...

Scientists have corrected an extremely rare and life-threatening genetic disease of the liver in mouse models and human patient cells, using the gene-editing approach that served as the basis for the ...

Researchers from BWH have uncovered a new genetic cause for erythropoietic protoporphyria (EPP), a photosensitive blood disorder. In the past, the most well-known causes for EPP were two specific ...

Imagine facing a condition so rare that fewer than 100 people in the world are known to have it - a disorder that can disrupt a child's ability to walk, talk or even eat. While there is still much to ...

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 ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

It’s estimated that one in four adults will suffer from some type of anxiety disorder at some point, such as phobias of specific things; generalized anxiety that affects people over a long period of ...