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

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

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

Rare diseases are genetic disorders that affect a small proportion of the population. Despite their rarity, they can be a ...

A global revolution in genetic sequencing is helping University of Otago scientists solve the mysteries of ultra-rare disorders, for one family at a time.

Melinda Collier told Newsweek that "you can't and shouldn't chalk up someone, let alone a child, as a lost cause." ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Getty KJ Muldoon was diagnosed with severe carbamoyl phosphate ...

While genetic testing may be diagnostic, ordering the tests requires physicians to consider the possibility of the illness first. Treatments Curative treatments are rare but available for diseases ...

Learn more about the gene linked to the evolutionary loss of human tails, and how, in rare cases, some people are still born ...

At only two days old, Sophie was losing too much weight, and too quicky. Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and ...