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

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

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

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can ...

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

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is ...

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

In its standard definition, the word "rare" describes something that doesn't happen very often. So families who receive a diagnosis of a "rare genetic disease" understandably feel isolated and that ...

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

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 ...

As genetic sequencing becomes more advanced and widely used, researchers expect to uncover more rare blood types. Each discovery expands our understanding of human variation and raises fresh ...