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, according to Montefiore Health System. The national network is led by the National Organization for Rare Disorders (NORD), Montefiore officials said, 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 officials said the hospital 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.”

 

John Greally, D.Med., Ph.D. is chief of genomics, and professor of genetics and pediatrics at Albert Einstein College of Medicine. His is also clinical geneticist at the Children’s Hospital at Montefiore (CHAM), and co-director of the NY Center for Rare Diseases at Montefiore. “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 Greally.

 

He added, “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.”

 

According to Montefiore officials, rare diseases are conditions that impact less than 200,000 individuals in the United States. They said that 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 percent of rare diseases do not have any treatments.

 

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

 

At CHAM, according to Montefiore officials, there has already been significant research into rare genetic diseases that cause intellectual and developmental diseases. This has been carried out 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 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.”

 

Montefiore officials said 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, they say, is to improve outcomes for members of the rare disease community.

 

According to Montefiore, each of the 40 centers selected by NORD was selected in a competitive application process that required experts across multiple specialties to meet the needs of rare disease patients and which required significant contributions to rare disease patient education, physician training, and research.

 

Ed Neilan, chief scientific and medical officer of NORD, said, “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.” He added, “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 here.