The National Organization of Rare Disorders

This collaboration between The National Organization for Rare Disorders and Medscape is designed to provide practicing clinicians with updates and analysis on a range of clinically important topics from rare disease experts affiliated with NORD. Since 1983, NORD has served as the hub of the rare disease community, providing information and other services to promote timely diagnosis and optimal treatment for patients.


  • 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.
  • Rare Diseases -- Not Just for Geneticists Anymore   Drs Summar and Saul discuss gaps in education for all clinicians, as pediatric and other rare disease patients live longer, transition to adulthood, and rewrite natural histories of their diseases.
  • Rare Diseases and Translational Research at NIH   Dr Marshall Summar interviews Dr Petra Kauffman about the National Institutes of Health's initiatives to bring more new treatments to more patients more quickly.
  • Interview With Mike Watson of ACMG   With an explosion in technology and genetic testing, will there be enough Geneticists to serve the need? Drs Watson and Summar discuss this and more at the NORD Summit.
  • Pursuing Elusive Diagnoses for Rare Diseases Dr William Gahl describes an NIH program designed to help patients and healthcare providers who have spent years seeking diagnoses for chronic, undiagnosed conditions.
  • The Importance of Rare Disease Education Despite popular consensus that rare diseases do not necessitate a prominent place in medical education, knowledge of these conditions can be life-changing for patients and practitioners.
  • Screening Newborns' DNA -- Why Not?   Marshall Summar and Jess Gilbert Thoene talk about how newborn screening has evolved and the almost unimaginable impact the Orphan Drug Act has had on product development for rare diseases since 1983.
  • Registries for Rare Diseases: Involve the Patient   Knowledge will expand, care will advance, and outcomes will improve if registries are used to their full potential.

About NORD

The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.