At present, newborns are given a heelprick blood test that checks for nine serious conditions, including cystic fibrosis. As part of this new study, led by Genomics England, blood samples will be ...

Five Medicaid beneficiaries and their caregivers allege in a federal lawsuit that the DeSantis administration is allowing ...

A team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, ...

Find out all about the first two FDA drug approvals for the rare genetic disorder Niemann-Pick disease type C.

Work began on legislation to give the state more power to punish abusive group homes after an NJ Advance Media report earlier ...

Jar of Hope was all set to stage a half-marathon fundraiser along Route 9 in Western Monmouth County this weekend. Then the ...

In October 2021, shortly after Texas passed the SB 8 abortion law, Kaitlyn Kash, 37, of Austin, was 13 weeks into her second ...

Australian researcher Associate Professor Wendy Gold, a world leader in Rett Syndrome research from the University of Sydney, joins international colleagues and Rett families on the Gold Coast today ...

Many people have completely wrong ideas about addiction, which can impede addicts from getting treatment and sustaining ...

Cadieux-Moses will hold her annual two-day bake sale in support support of the Children’s Hospital of Eastern Ontario, at Giant Tiger in Cornwall on Oct. 10-11.

The 56-year-old has a rare genetic disorder called incontinentia pigmenti. The condition causes skin abnormalities like a ...

BioMarin is adding kindling to the R&D fire, striking a match with CAMP4 Therapeutics for rights to select two targets ...