A large-scale genetic analysis has identified 36 genes carrying rare mutations that substantially increase the likelihood of developing obsessive-compulsive disorder, chronic tic disorders, or both.

Hilária Mireski, who has the rare Gorlin-Goltz syndrome and has been diagnosed with 73 skin cancers, wed Adão Pereira wed in ...

A West Virginia boy with an extremely rare genetic disease is celebrating his fifth birthday, a milestone his parents once ...

A study of 327,642 participants identified genetic variants and genes linked to chronic pain, highlighting neuronal and ...

ADHD is a neurodevelopmental disorder with a high heritability, in which the genetic component consists of thousands of genetic variants. Most variants only slightly increase the likelihood of ...

New research has identified small changes in the sequence of a gene, or variants in TMEM63B that can cause serious lung disease in carriers of those variants. The findings have been reported in the ...

Elaine Hess opened up about her son Aidan’s C6 deficiency in a new interview, and credited the test with finding the ...

Children with rare genetic disorders often face years of uncertainty before receiving a diagnosis, leaving families without clear information about disease progression, treatment options, prognosis, ...

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown genetic disease that affects movement and muscle control. The disease—called ...

A Carlsbad family is racing to find a treatment for 10-month-old Delaney Holian, whose rare genetic disorder has severely ...

"Investments by DARPA, the inspiration for ARPA-H, helped catalyze some of the world's most transformative breakthroughs, including the internet and autonomous vehicles," said Lukas Lange, CEO of ...

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