Rare and hard-to-diagnose diseases present extremely difficult problems not only for patients and their families, but also for their physicians.    The Harvard Center is one of six new clinical sites that will join together and build upon the existing NIH Undiagnosed Diseases Program.  These sites comprise the new NIH Undiagnosed Diseases Network.  This Center, located in Boston, MA,  is a collaboration between Brigham and Women’s Hospital, Massachusetts General Hospital and Boston Children's Hospital, and whose goal is to offer new hope to patients who suffer from diseases and symptoms that have eluded diagnosis.  It seeks to solve “ultra-rare medical problems” in adults and children through a combination of clinical evaluation, genetic and genomic analysis, environmental exposure analysis, metabolic studies, systems biology and more. Patients will be able to apply to have their cases reviewed by a team of the nations most respected clinicians.  Those who are admitted to the Center will undergo a week-long clinical assessment, medical testing, and consultations with specialists, with the ultimate goal being to uncover a possible basic genetic defect.

   Joseph Loscalzo

Joseph Loscalzo

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...

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