When two defective gene variants combine, normal protein function can sometimes be restored.

A rare form of diabetes affecting newborn babies and caused by a genetic disorder has been discovered by scientists in the UK ...

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...

Small changes in genes can make us unique, and they can also have biological effects. Scientists have identified a genetic mutation in a gene called SMIM1 that encodes for a blood group called Vel, ...

A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according ...

The number of cases in Malaysia is very small. However, the risk still exists, particularly for parents with a family history ...

An illustration of the genetic and expression map of the PWS critical region (15q11-q13). This figure illustrates the genomic structure of the PWS critical region on chromosome 15, showing the ...

CNBC’s Becky Quick recently opened up about her 9-year-old daughter Kaylie’s private battle with a rare genetic disorder. In an interview with People, published on Thursday, January 8, Quick, 53, ...

From horns to conjoined heads and super-flexible skin, these rare genetic conditions challenge belief.

TALLAHASSEE, Fla. (WFLA) — With thousands of rare diseases affecting millions of families worldwide, one Tampa Bay lawmaker is taking action to position Florida as a national leader in genetic ...

Hani Duglof says even though he applied for asylum 12 years ago, and his case is still pending, federal agents told him he ...