Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like ...

In Senegal, Dr. Pedro Rodriguez is pioneering genetic research to connect patients with rare diseases to life-saving ...

Researchers from the Francis Crick Institute, UCL, Gustave Roussy and Memorial Sloan Kettering Cancer Center (MSK), have ...

a gene once thought to be inactive. The authors also identified a separate mutation in RNU2-2 that tends to arise in unaffected individuals as they age, which may have implications for age-related ...

Jim Higgins has an inherited cancer syndrome that has killed his father, sister, and two daughters. He fears NIH cuts will ...

Researchers have identified mutations in the non-coding gene RNU2-2 as a cause of a newly defined neurodevelopmental disorder ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

In psychology, the term subjective well-being (SWB) is used to describe the extent to which different people feel happy and ...

Study identifies a new set of genes and cellular pathway that play a role in ... suggest that combinatorial therapeutic approaches will be key in PD and related neurodegenerative disorders CHICAGO --- ...

The antimalarial drug mefloquine could help treat genetic diseases such as cystic fibrosis, Duchenne muscular dystrophy, as well as some cancers. In these diseases, a mutation in the genetic code ...

The new data builds upon previously reported 6- and 12-month positive results from adult patients treated in the same study.