GEN12d
Genetic Reanalysis Provides New Rare Disease Diagnoses
Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...
Driscoll Children’s treats baby born with rare genetic disorder
Marcelo was diagnosed with Treacher Collins syndrome, a rare condition affecting facial bone structure and cartilage. The ...
Bonner County Daily Bee12d
Understanding the complicated world of rare diseases
From Adrenoleukodystrophy to Zollinger Ellison Syndrome, there are currently over 7,000 diseases identified as rare. In the U.S., the Orphan Drug Act of 1983 defines a disease as “rare” if it affects ...
Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
Personalized therapy for rare genetic diseases: Patient-derived organoids offer new hope
Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...