In a genetic association study, investigators integrated data from genome-wide association studies of various disorders with retinal transcriptomic data. Findings revealed that the polygenic risk of ...

A team of researchers from the Chinese Academy of Sciences has uncovered compelling evidence of a genetic link between bipolar disorder type I (BD-I) and epilepsy, potentially revolutionizing our ...

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...

SRF (SYNGAP1), RSRT (Rett), CACNA1A, STXBP1, Loulou (CDKL5), & KCNQ2 Cure (KCNQ2) collaborate to support Dr. Devinsky’s research for clinical trial readiness. Co-funded by multiple organizations, this ...

Experts say the research could reveal more about the role of genetics in autism and lead to more personalized care. A new study has identified four biologically distinct subtypes of autism, each with ...

Scientists have found a way to restore brain cells impaired by a rare genetic disorder called Timothy syndrome. NPR's Jon Hamilton reports the method offers hope for treating a wide range of other ...

Spinal muscular atrophy is a rare genetic disorder causing progressive muscle weakness, now in focus after Jesy Nelson shared her twins' diagnosis.

The exact cause of personality disorders is unclear. However, genetics, neurological differences, and environmental factors may contribute to the development of these complex mental health conditions.

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 ...