Boston Children's Hospital is an integral part of the Undiagnosed Diseases Network (UDN), a program of the National Institutes of Health (NIH). In July 2014, the NIH announced a $7.19 million, 4-year grant to establish the Harvard Center for Integrated Approaches to Undiagnosed Diseases. The Harvard Center, one of six in the UDN, includes Boston Children's, Brigham and Women’s Hospital and Massachusetts General Hospital.
The idea behind the UDN is to bring together concentrated expertise in genetics, genomics and rare diseases to provide answers to diagnostic mysteries. Results and data will be shared with the scientific community nationally.
About our partnership
Undiagnosed diseases are conditions that even skilled physicians cannot diagnose despite extensive clinical investigation. Doctors may not recognize them because they are rarely seen or never described, leaving patients to visit doctor after doctor in search of an explanation for their symptoms.
As part of the UDN, Boston Children’s and other participating hospitals will investigate undiagnosed diseases in adults and children through a combination of careful clinical evaluation, genetic and genomic analysis, environmental exposure analysis, proteomics, metabolic studies, systems biology and network medicine analysis. In its first year, the three institutions that make up the Harvard Center will enroll and care for 12 patients, increasing to 50 per year by the fourth year.
Boston Children’s is accustomed to seeing patients with diseases so rare that they may affect fewer than 50 patients in the world. All patients it enrolls through the UDN will also have access to specialty care and genetic counseling.
Key research partners
- Alan Beggs, PhD, Manton Center for Orphan Disease Research, Boston Children's Hospital
- Gerard Berry, MD
- Ingrid Holm, MD, MPH
- Isaac Kohane, MD, PhD, co-director, Center for Biomedical Informatics, Harvard Medical School; chair, Informatics Program, Boston Children's Hospital, principal investigator, UDN Coordinating Center
- Joan Stoler, MD
- Wen-Hann Tan, BMBS
- Christopher Walsh, MD, PhD, chief, Division of Genetics and Genomics, Boston Children's Hospital
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