Genetic reanalysis results in more than 500 patients receiving diagnosis
The European consortium for Solving the Unsolved Rare Diseases has demonstrated the significance of international ...
4 drugs for rare diseases to be covered under N.B. deal with federal government
Drug coverage for four drugs used to treat some rare diseases was announced in Fredericton on Wednesday under a $32-million ...
precisionmedicineonline1 天
Base Editing Being Tested to Treat Rare Genetic Immune Disorder in NIAID-Sponsored Trial
In a Phase I/II trial, patients with X-linked chronic granulomatous disease will receive a treatment created using a new ...
Science Daily7 天
Long reads successfully used to find genetic causes of rare diseases
The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...
News Medical on MSN10 天
Long reads can revolutionize genetic diagnosis of rare diseases
The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces-short reads.