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New ‘Undiagnosed Disease’ Center in Boston Funded by the NIH

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Brigham and Women’s Hospital, Massachusetts General Hospital, and Boston Children’s Hospital will form the new Harvard Center for Integrated Approaches to Undiagnosed Diseases

Boston, MA (July 1, 2014) - 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 without a diagnosis for years, which can result in treatment delays, repeated diagnostic tests, and increased health care spending.

Now, a new clinical program in Boston, comprised of a consortium of Brigham and Women’s Hospital (BWH), Massachusetts General Hospital (MGH), and Boston Children’s Hospital (BCH) is set to offer new hope to patients who suffer from diseases and symptoms that have eluded diagnosis. Today, the NIH announced a $7.19 million, 4-year grant to fund an 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, proteomics, metabolic studies, systems biology, and network medicine analysis. In its 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, chairman 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 (UDP) to form the new NIH Undiagnosed Diseases Network (UDN). The UDP has received approximately 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.

“These new UDN clinical sites will enhance coordination and collaboration amongst laboratory and clinical researchers across multiple sites and expand the national knowledge base by sharing resulting data and approaches widely throughout the scientific community,” said Anastasia Wise, PhD, program director for the UDN clinical sites. 

Evaluating these challenging patients will provide a great opportunity to further integrate the three Boston institutions, bringing to bear a multitude of clinical experts and those at the cutting edge of genomic and other technologies, to solve these puzzling medical cases and in the process contribute to the understanding of mechanisms of disease. A major goal of this program will also be to help train clinicians in the use of contemporary technologies and genomic approaches for medical diagnosis.

“One thing that’s very important to us is keeping the patient at the center of what we do,” says Christopher Walsh, MD, PhD, chief of the Division of Genetics and Genomics at BCH. “All patients enrolled in the Center will have access to specialty care and genetic counseling as we work to solve their diagnostic ‘mystery.’ This isn’t just research, it’s also clinical care.”

Often, patients with undiagnosed disease present compelling research questions. Clarifying the factors that underlie these disorders has the potential to improve understanding of disease processes and of related disorders and their potential treatments.  Advances in the science of genetics and genomics in medicine have made it possible to understand the causes and potential targets for treatment of some of these diseases. 

“It is likely that many of these undiagnosed diseases are a result of a combination of multiple genetic, environmental, and developmental factors. Genetic sequencing can be a powerful approach to understanding the genetic contributions to undiagnosed diseases; however, these methods alone are unlikely to elucidate the basis for many, if not most, undiagnosed diseases,” said David A. Sweetser, MD, PhD, chief of pediatric genetics at MGH.

“This center gives us the opportunity to highlight the utility of modern genomics to 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.”

Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare. BWH has more than 3.5 million annual patient visits, is the largest birthing center in New England and employs nearly 15,000 people. The Brigham’s medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in patient care, quality improvement and patient safety initiatives, and its dedication to research, innovation, community engagement and educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), BWH is an international leader in basic, clinical and translational research on human diseases, more than 1,000 physician-investigators and renowned biomedical scientists and faculty supported by nearly $650 million in funding. For the last 25 years, BWH ranked second in research funding from the National Institutes of Health (NIH) among independent hospitals. BWH continually pushes the boundaries of medicine, including building on its legacy in transplantation by performing a partial face transplant in 2009 and the nation’s first full face transplant in 2011. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative.  For more information, resources and to follow us on social media, please visit BWH’s online newsroom.

Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $775 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine

Boston Children’s Hospital is home to the world’s largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including seven members of the National Academy of Sciences, 14 members of the Institute of Medicine and 14 members of the Howard Hughes Medical Institute comprise Boston Children’s research community. Founded as a 20-bed hospital for children, Boston Children’s today is a 395-bed comprehensive center for pediatric and adolescent health care. Boston Children’s is also the primary pediatric teaching affiliate of Harvard Medical School. For more information about research and clinical innovation at Boston Children’s, visit:

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- Sandra L. Fenwick, President and CEO

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