Rare Diseases

Rare Diseases Perspective

  • Newborn Screening for Rare Diseases   A parent's story with two different outcomes illustrates why newborn screening is so important in the early diagnosis and treatment of rare disorders.
  • Current and Novel Vasculitis Biomarkers Dr Desai comments on a study reviewing biomarkers that can diagnose, prognosticate, and monitor disease activity in antineutrophil cytoplasm antibody-associated vasculitis.

Rare Diseases News & Journal Articles

  • Alert CHMP Backs Orphan Drug Refixia for Hemophilia B Refixia (nonacog beta pegol) is a recombinant coagulation factor IX product for the treatment and prophylaxis of bleeding in patients aged 12 years and older with hemophilia B.
  • ACC Spironolactone Promising in Duchenne Muscular Dystrophy Preliminary results from a study of spironolactone in Duchenne muscular dystrophy suggest that the drug is safe in this patient group and may preserve left ventricular function.

Medscape Editorial Collaborations