When we can play any part in supporting other families, it’s a tragic gift that allows us to continue to parent Havi.” For ...

Scientists from a collaboration of Australian research institutions have proposed that editing multiple genetic variants in ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to ...

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy ...

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

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...

Two new compounds may be able to treat retinitis pigmentosa, a group of inherited eye diseases that cause blindness. The compounds were identified using a virtual screening approach.

An international study led by the University of Oulu and Oulu University Hospital has identified six genetic regions ...

Late-onset Alzheimer's disease is a debilitating, progressive neurodegenerative disease that affects about 7 million ...