The programme will focus on accelerating treatments for rare diseases, most of which currently lack approved therapies.

This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of ...

GeneDx, a fast-growing biotech doing exome and genomic testing, has seen big returns on Wall Street as appetite for its tests ...

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique problems demand unique solutions. To that end Ms Vitarello created Mila’s ...

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

Patients in the EU with rare disease thymidine kinase 2 deficiency (TK2d) could be just weeks away from having the first ...

CRISPR gene editing has now been used to treat a genetic defect in a child, giving hope to parents of children with rare inherited diseases. While hopes are high, clear communication about the ...

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

Global experts are gathering in Huntsville this week to discuss the latest developments in artificial intelligence at the ...

According to a statement released by the University of Vienna, an international team of researchers has identified a rare genetic condition in the remains of a mother and daughter who were buried in ...

In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA ...

Although DNA is tightly packed and protected within the cell nucleus, it is constantly threatened by damage from normal ...