Pam Kowalcyzk and her daughter have PKU, a rare disorder that prevents the body from processing protein ...

Etta Cartmill will receive a kidney transplant after already spending five weeks in the hospital following a liver transplant ...

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 ...

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...

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

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

As an adjunctive treatment, empagliflozin improves glycaemic control in patients with HNF1A-related maturity-onset diabetes ...

A local two-month-old baby has a road full of unknowns ahead of her after being diagnosed with a rare genetic condition. Kira ...

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