An online portal for undiagnosed patients

(Mopic/Shutterstock)
(Mopic/Shutterstock)

Prospects are looking up for patients who have no explanation for their symptoms despite extensive investigations and testing. There’s a growing revolution in DNA diagnostics (see yesterday’s example) and ongoing work to bring clarity and meaning to sequencing data. Patients with similar symptoms can find each other like never before, and are increasingly empowered to lead in research and discovery.

Another small but important development was announced yesterday by the National Institutes of Health. The NIH’s Undiagnosed Diseases Network (UDN) has opened up a one-stop online portal called the UDN Gateway where patients and families can apply for access to expert team analysis and testing. (A referral letter from a provider is required.)

Patients accepted through the portal will have access to researchers and physicians from a wide array of medical specialties and may have sophisticated DNA sequencing studies to uncover genetic explanations for their disorders.

UDN logoThe UDN was established last year to broaden NIH’s existing Undiagnosed Diseases Program, which to date has enrolled more than 800 patients for a week-long evaluation in its clinical center in Bethesda, Maryland (that’s out of more than 3,100 reviewed applications). The UDN adds six additional clinical sites, each of which will accept about 50 patients per year by the summer of 2017

“The UDN Gateway will expand our ability to connect with patients who may benefit from the UDN,” said Anastasia Wise, PhD, UDN co-coordinator and program director of the NHGRI’s Division of Genomic Medicine. “Based upon the experience of the Undiagnosed Diseases Program, we know that the need and potential are great.”

The six new sites are:

  • Baylor College of Medicine, Houston
  • Duke Medical Center, Durham, North Carolina, with Columbia University, New York City
  • Brigham and Women’s Hospital, Boston Children’s Hospital and Massachusetts General Hospital
  • Stanford Medical Center, Stanford, California
  • University of California at Los Angeles Medical Center
  • Vanderbilt University Medical Center, Nashville, Tennessee.

“The Gateway is an important part of the infrastructure that we are establishing for the UDN,” said Rachel Ramoni, DMD, PhD, executive director and a principal investigator of the UDN Coordinating Center, housed at Harvard Medical School’s Department of Biomedical Informatics.

The UDN has also introduced two DNA sequencing facilities, one at Baylor and the other at the HudsonAlpha Institute for Biotechnology (Huntsville, Alabama) with Illumina in San Diego. For more about the UDN, visit http://commonfund.nih.gov/Diseases/index.