A new in vivo pharmacokinetic recall study involving 114 participants in the Estonian Biobank has provided the first clinical ...

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

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from ...

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 ...

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 ...

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains ...

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 ...

Chennai hospital successfully performs liver transplant on two-year-old with primary hyperoxaluria, improving his kidney ...