Press Release - Jul 1, 2014New ‘Undiagnosed Disease’ Center in Boston Funded by the NIH
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 - 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.
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
Health Initiative. For more information, resources and to
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