Members of the Undiagnosed Diseases Network (UDN) published a summary of the progress that was made by the network during the first twenty months of accepting applicants in the New England Journal of Medicine. During that time, the network accepted 601 participants that remained undiagnosed by traditional medical practices. Of those who completed their UDN evaluation in the first twenty months, 35% were given a diagnosis. Many of these diagnoses are rare genetic diseases including 31 previously unknown syndromes.

To learn more about this study, read the press releases associated with the publication from Stanford Medicine and Baylor College of Medicine.

New coverage associated with this publication:

• Finding Answers for Patients with Rarest of Rare Diseases
  Associated Press
  October 10, 2018
   
• Doctor Detectives Help Diagnosis Mysterious Illnesses
  CBS News
  October 11, 2018
   
• Disease Detectives Crack Cases of 130 Patients with Mysterious Illnesses
  San Francisco Chronicle
  October 10, 2018
   

Reference

• Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA, Undiagnosed Diseases Network. N Engl J Med. 2018 Oct 10.