Researchers from Radboud University Medical Center and University of Basel have discovered new genetic causes of inherited ...

University of Otago – Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children ...

Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with ...

A new University of California San Diego School of Medicine study offers a unified biological model to explain how genetic predispositions and environmental exposures converge to cause autism spectrum ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Scientists at the Icahn School of Medicine at Mount Sinai and ...

A large genetic screen has revealed how stem cells transform into brain cells, exposing hundreds of genes that make this ...

This work not only identified the genetic cause of RP but also further highlights the role that noncoding genes can have in genetic disorders.

PKD is mainly caused by mutations in the PKD1 and PKD2 genes, affecting polycystin proteins. Disrupted signaling pathways, like cAMP and vasopressin, are major drivers of cyst growth. Tolvaptan is ...

Marley Mansour, 11, is tickled by mom Kayla Mansour on her bed at their home in Rowlett on Tuesday, April 29, 2025. Marley is set to make medical history as the first person in the world to receive ...

In cells, there is a careful coordination of activity among molecules. Genes have to be expressed in the right cells at the right times, and the proteins that genes encode for must be properly folded ...