A massive genetic analysis reveals that while men and women share much of the underlying risk for anxiety, they also possess ...

Researchers report a previously unrecorded de novo GLI3 frameshift variant in a Palestinian infant with Pallister-Hall ...

She had just diagnosed our 11-year-old daughter, Maya, with Nicolaides-Baraitser syndrome, a genetic condition so rare there ...

Population cohorts combining genetics with multi-organ imaging reveal that brain disorders share a distributed genetic ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Genetic influences on complex traits change over the lifespan. Schoeler et al. show that cross-sectional and longitudinal studies can give different estimates of how genetic effects change with age, ...

In a landmark discovery, researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases.

Myelodysplastic syndromes (MDS) are a group of disorders that typically arise in adulthood, especially after the age of 70, and their five-year survival rate is around 30%. MDS are characterized by ...

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, ...

“Ultimately, we'll help the people we discriminate against if we try to understand more about them; genetics will lead to a world where there is a sympathy for the underdog.”—James D. Watson A recent ...

Two unusually long-legged cats have helped scientists uncover the first genetically confirmed cases of Marfan syndrome in ...