Duchenne muscular dystrophy (DMD) is a genetic condition that causes progressive muscle weakness and wasting. It is an X-linked recessive disorder that occurs due to changes in the DMD gene, which ...

The genetic causes of very early menopause will have to be reconsidered after researchers found that nearly all women who carried variations thought to cause the condition in fact had their menopause ...

(SALT LAKE CITY)—In an unprecedented international study, researchers from Europe and the United States have shown that individuals carrying a particular genetic variant in the PHACTR1 gene are at ...

Claudia Gonzaga-Jauregui studies molecular diagnostics of rare genetic disorders using genome sequencing and family-based analyses to better understand variants that cause disease. Gonzaga-Jauregui is ...

The world's largest study of cerebral palsy (CP) genetics has discovered genetic defects are most likely responsible for more than a quarter of cases in Chinese children, rather than a lack of oxygen ...

Scientists at The Hospital for Sick Children (SickKids) have revealed a previously overlooked layer of genetic variation that ...

Researchers have carried out the most extensive and varied investigation to date regarding the role that recessive genetic alterations play in developmental disorders. Their findings, which indicate ...

Systemic lupus erythematosus (SLE), more commonly known as simply lupus, is a chronic autoimmune disease that provokes symptoms from skin rashes and fevers all the way to chronic fatigue and ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

Genetic causes of obesity include monogenic, polygenic, and syndromic obesity. You may have a mutation in one or more genes that may cause early-onset obesity or affect hunger cues. Nearly 42% of ...