Jeff and Deena Leider are pushing federal officials to expand access to a treatment for their two sons' rare disease.

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

Stuart Orkin and Swee Lay Thein shared a Breakthrough Prize in Life Sciences for their research on genetic causes of sickle ...

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 ...

A new University of California San Diego School of Medicine study offers a unified biological model to explain how genetic predispositions and environmental exposures converge to cause autism spectrum ...

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 ...

Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum ...

Differences in the physical shape and wiring of the brain can directly contribute to the development of attention and social ...

Genetic testing revealed Owen had Opitz G syndrome, an extremely rare genetic disorder that causes midline body defects, ...

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 ...

World Thalassemia Day: In India, beta-thalassemia is the more prevalent type and continues to be a major public health issue.