Browsing Category
Rare Diseases
3 posts
Data silos are undermining drug development and failing rare disease patients
Orphanet Journal of Rare Diseases Nathan Denton1*, Monique Molloy2, Samantha Charleston2, Craig Lipset3 , Jonathan Hirsch4,5, Andrew E. Mulberg6,…
Data sharing holds key to progress on rare diseases in Europe
Inadequate infrastructure for international collaboration on research is the main obstacle to progress Financial TimesMax HorberryFEBRUARY 28 2022Getty Images/iStockphoto…
Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients, according to world first study
Genomics EnglandPosted on November 10, 2021 Key message Incredible — findings from UK’s 100,000 Genomes Pilot show that whole genome…
