Genetic results from the Deciphering Developmental Disorders (DDD) study have enabled thousands of children with severe developmental disorders to receive better treatment. Thousands of children with ...
Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...
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Overview of Fatal Familial Insomnia

Medically reviewed by Amelia MacIntyre, DOKey TakeawaysFatal familial insomnia is a rare genetic disorder that affects sleep ...
Aditi Kantipuly resists the siloes that separate science and art. A physician now training in preventive medicine at a Canadian university, Kantipuly said, “I like to use different mediums of ...
A study published in Science reveals a cellular mechanism involved in the inheritance of genetic mutations. The study also ...
Errors in a gene known to cause a serious neurodevelopmental condition in infants are also linked to the development of ...
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 ...
Sam Brandsen's son was diagnosed with autism at 18 months. (Sam Brandsen) People who learn they have autism after age 6 — the current median age at diagnosis — are often described as having a “milder” ...