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A Rare Genetic Disorder Afflicting Children Brings Specialists Together at Montefiore
Story Number is : 091817105
PROVIDED
Montefiore Health System

A new multidisciplinary clinic opens today, bringing together pediatric geneticists, allergy and immunology specialists, otorhinolaryngologists and behavioral health experts from the Children’s Hospital at Montefiore to care for children with 22q11.2 Deletion Syndrome (22q11.2DS), also known as velo-cardio-facial syndrome or DiGeorge syndrome. 22q11.2DS is a rare genetic disorder involving chromosome 22 that causes a range of challenges for affected children.

The CHAM clinic is the only one in the tri-state area offering comprehensive care from a variety of specialists collaborating in one location, at the same time. The clinicians will also work with National Institutes of Health (NIH)-funded researchers at Albert Einstein College of Medicine who are investigating various components of the disorder in the hopes of improving the health of children who have it.

“This is a complicated disease that affects multiple organs,” said Melissa Wasserstein, M.D., chief, Division of Pediatric Genetic Medicine, CHAM and associate professor of Pediatrics and of Genetics, Einstein. “Through our collaboration with a variety of providers at CHAM we can provide the best, most individualized care for every patient we see. Simultaneously by collaborating with researchers at Einstein, we hope to identify why the loss of part of chromosome 22 causes the syndrome and why it affects children in different ways.”

The 22q11.2 deletion occurs in approximately 1 in every 4,000 live births and each child with the disorder has a different severity and level of needs. Many patients present with heart defects and characteristic facial appearance, including a long face with a high and broad nasal bridge, while others have intellectual and developmental needs. Some patients will require the whole spectrum of specialist care, while others may only need to see a few of the specialists at each clinic appointment.

To better understand the variations of cognitive and behavioral differences in patients with 22q11.2DS, Sophie Molholm, Ph.D., associate professor of Pediatrics and of Neuroscience, the Muriel and Harold Block Faculty Scholar in Mental Illness, and associate director of Einstein’s Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC), is conducting research on brain development and cognitive function in these children.

“A major goal of our work is to better understand the biological mechanisms and the genetic pathways causing intellectual impairment in some of these children,” said Dr. Molholm, who is working with Bernice Morrow, Ph.D., director of translational genetics, professor of Genetics and the Sidney L. and Miriam K. Olson Chair in Cardiology at Einstein.

“Our collaboration with providers at CHAM enables families to conveniently receive multidisciplinary care from a variety of specialists in one location but also enables them to further science and discovery by participating in the genetic research studies we are leading,” said Dr. Morrow, who is Principal Investigator on another NIH-funded study trying to understand the genetic reason for variable occurrence of congenital heart disease among children with 22q11.2DS.

Families who seek care at the CHAM clinic will be able to learn more about the research underway at the IDDRC and participate in the studies. In addition to the clinical and research offerings, patients and families will find a support network and opportunities to socialize with each other at events and gatherings coordinated by the clinicians and researchers.

To find out more about the CHAM clinic, visit: http://www.cham.org/programs-centers/22q11-2-deletion-syndrome and to learn more about the research studies, visit: https://www.einstein.yu.edu/centers/iddrc/



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