A research team at the Francis Crick Institute and Great Ormond Street Hospital (GOSH)/UCL Great Ormond Street Institute of Child Health have identified new potential treatments for children with rare genetic conditions of blood vessels, which cause severe, lifelong, and disabling symptoms like seizures and impaired development.
Researchers design potential therapy to prevent brain deterioration in children with rare genetic conditions medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.
Researchers at The Jackson Laboratory recently announced a test that they say can help patients struggling with a rare disease find answers sooner while saving money on healthcare costs. The JAX genome test is the only clinical whole genome sequencing test offered in Connecticut, JAX representatives said.
CT lab's gene sequencing test finds more rare diseases courant.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from courant.com Daily Mail and Mail on Sunday newspapers.
Until quite recently, it was extremely difficult to detect the variants underlying many genetic disorders. In the absence of a defined cause, clinicians have little to guide treatment for those left without a genetic diagnosis, forcing patients and families to embark on a diagnostic odyssey with no guarantee of finding answers.