New 'Undiagnosed Disease' Center in Boston Funded by the NIH

Rare and hard-to-diagnose diseases present extremely difficult problems not only for patients and their families, but also for their physicians, who struggle to identify and treat these disorders. Often, patients have persistent symptoms for years without a diagnosis, which can result in treatment delays, repeated diagnostic tests and increased health care spending. 

Now, a new clinical program in Boston--a collaboration among BWH, MGH and Boston Children's Hospital--will offer new hope to patients who suffer from diseases and symptoms that have eluded diagnosis. Earlier this month, the NIH announced a $7.19 million, four-year grant to fund the interdisciplinary Harvard Center for Integrated Approaches to Undiagnosed Diseases.

The center will seek to ascertain and characterize undiagnosed diseases in adults and children through a combination of careful clinical evaluation, genetic and genomic analysis, environmental exposure analysis, metabolic studies, systems biology and more. In the first year, the three Boston institutions will enroll and care for 12 patients, increasing to 50 per year by the fourth year.

"Here in Boston, we have enormous potential to help these patients by uniting the leading experts from these world-class institutions to bring the latest in medical knowledge and technologies to bear on these difficult cases," said Joseph Loscalzo, MD, PhD, chair of the Department of Medicine at BWH and principle investigator of the new center. 

The center is one of six new clinical sites that will join and build upon the existing NIH Undiagnosed Diseases Program to form the new NIH Undiagnosed Diseases Network. The program has received roughly 10,000 inquiries since 2008, and investigators have evaluated more than 3,000 medical records and admitted 750 patients to the NIH Clinical Center for thorough one-week evaluations. Through this newly established network, these resources will be more accessible to patients throughout the country, and more inquiries will be addressed.

Evaluating these challenging patients will provide an opportunity to further integrate the three Boston institutions. It will require many clinical experts and those at the leading edge of genomic and other technologies to solve these puzzling medical cases and contribute to the understanding of the mechanisms of disease. A major goal of this program is also to help train clinicians in the use of contemporary technologies and genomic approaches for medical diagnosis. All patients enrolled in the center will have access to specialty care and genetic counseling as clinicians work to solve their diagnostic mysteries.

"This center gives us the opportunity to highlight the use of modern genomics in understanding human disease," said Loscalzo. "We are hopeful that the new center will not only provide diagnostic answers and potential therapeutic strategies for those directly seeking a diagnosis, but also that the knowledge gained through the evaluation of these cases will inform our understanding of the many complex diseases we face."