Sunday, December 9, 2012

Treating Undiagnosed Diseases

Rare and yet-to-be described disorders are difficult for patients, families, and their physicians. The NIH Office of Rare Disease Research notes that about 6 percent of patients seeking their assistance have an undiagnosed disease and as many as 15 percent had persistent symptoms without diagnosis for at least five years.

The NIH Undiagnosed Disease Program (UDP) began in 2008 and over a four year period has received 6,300 inquiries where eventually 2,300 medical records were evaluated and 450 patients were admitted to the NIH Clinical Center for thorough one-week evaluations.

On November 30, 2012, NIH issued Funding Opportunity Announcement (RFA-RM-12-020) “Coordinating Center for an “Undiagnosed Diseases Network” (UDP) which is to be developed as a Common Fund initiative.

The plan is to build upon the NIH UDP. The NIH Director’s Office of Strategic Coordination is looking to establish a Coordinating Center for a planned Undiagnosed Diseases Network that would include new clinical sites. The funds available for the award are approximately $1.5 million for FY 2014 and one award is anticipated.

The establishment of the Coordinating Center for the UDP will bring more visibility and increase the efficiency of the program. A major goal is to establish an integrated and collaborative research community across the scientific community to share standardized high quality clinical and laboratory data. This data would include genotyping, phenotyping, and documentation on environmental exposures.

NIH expects that the project data sets and associated genotyping data from the Network will be shared widely with the scientific community for research. Study protocols, descriptions, bioinformatic tools, and publications are expected to be available through an open access section of the dbGAP database, through public web sites, and scientific publications. Also, investigators will need support in preparing abstracts, presentations, and publications and the Network leadership will need help to make the public award of the program.

Eligibility for applicants includes higher education institutions, nonprofits, for-profits that including small businesses, governments, and others. A Letter of Intent (LOI) is not required but if a LOI is submitted, it must be submitted by  January 2, 2012. The application is due February 1, 2013.