NY Center for Rare Diseases at Montefiore Einstein Selected to Join Prestigious National Network for Rare Disorders

The New York Center for Rare Diseases at Montefiore Einstein has become one of 40 academic medical centers selected to be part of a national network dedicated to diagnosing, treating and researching rare diseases. The network, led by the National Organization for Rare Disorders (NORD), is designed to foster knowledge sharing among experts across the country to improve care and fulfill unmet needs for the more than 25 million Americans living with a rare disease.

Children’s Hospital at Montefiore (CHAM), home of the New York Center for Rare Diseases, 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. A rigorous and highly competitive application process required collaboration among experts across multiple specialties and significant contributions to rare disease patient education, physician training and research.

“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 M. Greally, MD, PhD, Co-Director, New York Center for Rare Diseases, Montefiore Einstein; Director, Center for Epigenomics, Clinical Geneticist, Children’s Hospital at Montefiore; Chief, Genomics, and Professor, Genetics, Pediatrics, Albert Einstein College of Medicine.

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

Montefiore Einstein, however, is one of the organizations leading the charge for change. CHAM’s genetics division is one of the oldest and best known in the country, continuing to serve those with genetic diseases, birth defects and congenital malformations since its inception in 1968. Under the leadership of Melissa P. Wasserstein, MD, Chief, Pediatric Genetic Medicine, Children’s Hospital at Montefiore; Professor, Pediatrics, Genetics, Albert Einstein College of Medicine; Associate Director, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, and Co-Director, NY Center for Rare Diseases at Montefiore Einstein, CHAM has conducted significant research into rare genetic diseases that cause intellectual and developmental disorders.

“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,” Dr. Wasserstein said.

The NORD network connects patients to appropriate specialists, regardless of geography, and allows member institutions to partner to accelerate advancements in rare disease diagnoses, treatment and research. 

More information about the NORD Rare Disease Centers of Excellence Program and the full list of Rare Disease Centers of Excellence is available here.