Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new ...

DNA found in a prehistoric grave in Italy reveals a rare genetic disorder and is transforming our understanding of ancient ...

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 ...

A study using tiny retinas grown in a lab has revealed how subtle changes in a key growth-controlling protein can lead to a condition causing serious eye defects from birth. The findings, published in ...

In May 2025, the world celebrated the success of KJ, an infant who was treated with the world’s first personalized CRISPR gene editing therapy. KJ was born with severe carbamoyl phosphate synthetase 1 ...

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...

Tirupati: Withr are diseases often going undiagnosed due to lack of awareness, the Department of Paediatrics at Sri ...

Harrogate Cat Rescue is trying to raise funds to help pay for treatment for Noir and Neve.

A groundbreaking gene therapy tested through a UCLA-led clinical trial has received approval from the U.S. Food and Drug ...

For years, father of two Peter Martini experienced subtle symptoms that never seemed serious enough to raise alarm, but in ...

Lurie Children’s received an $11 million gift to expand genetics and rare disease care. The new division aims to shorten diagnostic wait times and increase clinical trials. Officials say the ...