The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, ...

Corina and Destiny lost their first child, Ahi o Te Aroha, at six months old. Although genetic testing identified a variant ...

Separate but simultaneous investigations revealed that the variant, found in a gene called TP53, was present in 23 total ...

Hopkins neuroscientist Richard Huganir is close to finding a potential life-changing treatment for kids with SYNGAP1-related ...

Though it may be a while before similar personalized treatments are available for others, doctors hope the technology can ...

Lucy Landman was born with a very rare genetic disorder that causes severe intellectual ... disease to another and not take four years and $10 million to do that," Urnov says.

Researchers say the CRISPR-based technique used could eventually be employed to treat more people with rare genetic diseases ...

Prince Frederik of Luxembourg died from a genetic disease called PolG, but experts hope his passing could bring more awareness to the rare condition that impacted his life. Prince Frederik ...

Genetic variants that cause rare disorders may remain elusive even after ... to exome-sequence data (10.8%). We obtained similar results in the replication cohort: in 33% of the families in ...

Islanders are often susceptible to rare diseases because of a lack of genetic diversity in small ... Those in outlying areas of the North East are 10 times more susceptible to purine-nucleoside ...