Rare Diseases Center of Excellence Consortium Aims to Improve Research and Care for the 1 in 10 Americans with a Rare Disease

Bronx, NY – May 4, 2023 — The NY Center for Rare Diseases at Montefiore has become one of 40 academic medical centers selected to be part of a national network dedicated to diagnosing, treating, and researching all rare diseases. The network is led by the National Organization for Rare Disorders (NORD) and is designed to foster knowledge sharing between experts across the country to meet the unmet needs of more than 25 million Americans living with a rare disease.

Montefiore Health System was selected for its research and clinical excellence in caring for people with complex, rare and inherited conditions, including its delivery of state-of-the-art precision medicine.

“By caring for an incredibly diverse patient population comprised of different cultures and economic backgrounds, we bring genomic, diagnostic and care expertise that will be valuable to share with partners across the country,” said John Greally, D.Med., Ph.D., chief of genomics, and professor of genetics and pediatrics at Albert Einstein College of Medicine, clinical geneticist at the Children’s Hospital at Montefiore (CHAM), and co-director of the NY Center for Rare Diseases at Montefiore. “I’m grateful to Montefiore Einstein leadership for growing our center and look forward to collaborating with new and existing colleagues to improve outcomes for every person impacted by rare conditions, regardless of their geographic location.”

Rare diseases are conditions that impact less than 200,000 individuals. While there are more than 7,000 rare diseases, cumulatively affecting millions of people, it is difficult to raise funding for research, launch clinical trials, and find physicians with expertise for any one disease. As a result, 95% of rare diseases do not have any treatments.

The division of genetics at CHAM is one of the oldest and best known in the country. It has provided family-centered care for infants, children and adults with genetic diseases, birth defects and congenital malformations since 1968. Many of the patients remain in Montefiore’s care for years.

At CHAM there has already been significant research into rare genetic diseases that cause intellectual and developmental diseases, under the leadership of Melissa Wasserstein, M.D., co-director of the NY Center for Rare Diseases at Montefiore, chief of pediatric genetic medicine at CHAM and Einstein, associate director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, and professor of pediatrics and genetics at Einstein.

“We are committed to advancing the study of rare diseases while providing education and support to our patients impacted by these conditions,” said Dr. Wasserstein. “By being a part of this novel collaborative, we will be able to gather new perspectives and further research that will be invaluable for understanding how rare diseases occur and the best treatment options for patients.”

NORD has designated qualified academic clinical leaders like Montefiore to improve rare disease care by connecting patients to appropriate specialists, regardless of geography, and establishing a network through which centers can partner to accelerate advancements in rare disease diagnoses, treatment, and research. The ultimate goal is to improve outcomes for members of the rare disease community.

Each center was selected by NORD in a competitive application process requiring experts across multiple specialties to meet the needs of rare disease patients and with significant contributions to rare disease patient education, physician training, and research.

“Right now, far too many rare diseases are without an established standard of care. The Rare Disease Centers for Excellence Program will help set that standard – for patients, clinicians, and medical centers alike,” said Ed Neilan, chief scientific and medical officer of NORD. “We are proud to announce the NY Center for Rare Diseases at Montefiore as a NORD Rare Disease Center of Excellence and look forward to their many further contributions as we collectively seek to improve health equity, care, and research to support all individuals with rare diseases.”

For more information about the NORD Rare Disease Centers of Excellence Program and the full list of Rare Disease Centers of Excellence, visit NORD’s website.

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About Montefiore Health System

Montefiore Health System is one of New York’s premier academic health systems and is a recognized leader in providing exceptional quality and personalized, accountable care to approximately three million people in communities across the Bronx, Westchester and the Hudson Valley. It is comprised of 10 hospitals, including the Children’s Hospital at Montefiore, Burke Rehabilitation Hospital and more than 200 outpatient ambulatory care sites. The advanced clinical and translational research at its medical school, Albert Einstein College of Medicine, directly informs patient care and improves outcomes. From the Montefiore-Einstein Centers of Excellence in cancer, cardiology and vascular care, pediatrics, and transplantation, to its preeminent school-based health program, Montefiore is a fully integrated healthcare delivery system providing coordinated, comprehensive care to patients and their families. For more information please visit www.montefiore.org. Follow us on Twitter and Instagram and LinkedIn, or view us on Facebook and YouTube.

About the National Organization for Rare Disorders (NORD)

With a 40-year history of advancing care, treatments and policy, the National Organization for Rare Disorders (NORD) is the leading and longest-standing patient advocacy group for the more than 25 million Americans living with a rare disease. NORD, a 501(c)(3) nonprofit, is dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 330 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research and policy. For more information, please visit https://rarediseases.org/.