A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.

Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...

The gene mutation was isolated in a family in northern Italy where under half of the relations developed the disease. View on ...

In this blog, Nadezhda Feliz, Genomics Data Scientist, shares her motivation for working in rare conditions research.

Surfactant B deficiency causes abnormalities in the lining of the lung tissues, making breathing difficult. The life expectancy without a lung transplant is about three to five months. In Kylie’s case ...

Angelman Syndrome is a rare genetic disorder caused by UBE3A gene mutations, leading to developmental delays, speech issues, ...

HAVE you ever experienced a gentle tug or what feels like a heartbeat below your eye? The chances are you have an eye twitch – it’s something most people will get from time to time.

The partners will adapt Eukarÿs' C3P3 engineered enzyme tech to work with adeno-associated virus vectors to boost biomanufacturing yields.

Cushing's syndrome is fairly rare. It most often affects adults who are 20 to 50 years old. It is sometimes called hypercortisolism. You will probably need to see a specialist in hormone-related ...