Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

Albert Einstein College of Medicine has received a five-year, $5 million grant from the National Institutes of Health (NIH) to support the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC), which has been at the forefront of research on normal and abnormal brain development for more than 50 years. The funding will sustain and deepen collaborations between Einstein scientists and clinicians at Montefiore Health System aimed at improving the care and treatment of children with intellectual and developmental disabilities (IDD), including those stemming from rare diseases.

"Our center is home to dozens of basic science and translational researchers who investigate the biological pathways and neurological mechanisms that underlie a range of intellectual and developmental disabilities," said Sophie Molholm, Ph.D., co-primary investigator on the grant and co-director of the RFK IDDRC. "But ultimately, our sights are set on helping the children with IDDs in the Bronx and empowering their families and caregivers, a goal this new grant will help us achieve," added Dr. Molholm, who is professor of pediatrics, in the Dominick P. Purpura Department of Neuroscience, and of psychiatry and behavioral sciences at Einstein.

Investigating gene mutations

Previous NIH support helped establish a research program on 22q11.2 Deletion Syndrome (22q11.2DS), an incurable genetic disorder associated with delayed intellectual development and psychiatric conditions. This new grant's research focus involves the X chromosome's KDM5C gene, which plays a central role in brain development and behavior. Mutations in the KDM5C gene lead to intellectual disabilities and other conditions, particularly in males although females can also be affected.

In 2020, the IDDRC's annual Rare Disease Day event featured a special program in which 12 families with children who have a KDM5C variant came together from around the country and from England to meet for the first time. They learned about recent findings and the RFK IDDRC partnerships at Montefiore and Einstein that are addressing research and care. Hayden Hatch, an M.D./Ph.D. student at Einstein, spearheaded the effort.

Julie Secombe, Ph.D., professor of genetics and in the Dominick P. Purpura Department of Neuroscience, will lead basic science studies on KDM5C, along with Bryen Jordan, Ph.D., associate professor in the Dominick P. Purpura Department of Neuroscience and associate professor of psychiatry and behavioral sciences. The translational and clinical aspects of the work will be led by Dr. Molholm and Lisa Shulman, M.D., professor of pediatrics at Einstein, interim director of the Rose F. Kennedy Children's Evaluation and Rehabilitation Center (CERC) at the Children's Hospital at Montefiore, and a developmental pediatrician at Montefiore.

Advancing IDD research and collaboration

Einstein is one of 15 IDDRCs funded by the NIH and was among the first such centers established in the 1960s. More than 100 researchers study neurodevelopmental conditions including autism spectrum disorders, attention-deficit hyperactivity disorder, Rett and Williams syndromes, Niemann-Pick and other lysosomal storage diseases, neurocutaneous disorders, and infantile and childhood seizures. The RFK IDDRC also has more than 20 clinical partners in neurology and pediatrics.

"We're in the unique position of having many different IDD-focused programs under one roof," said Steven Walkley, D.V.M, Ph.D., co-director of the IDDRC, co-investigator on the grant, professor in the Dominick P. Purpura Department of Neuroscience, of pathology, and in the Saul R. Korey Department of Neurology. "In addition to the IDDRC, the Rose F. Kennedy Center includes CERC, which is part of our University Center for Excellence in Developmental Disabilities; the NIH-funded healthcare professional training program known as LEND (Leadership Education in Neurodevelopmental and Related Disabilities); and a postdoctoral fellowship training program. We're truly at the forefront of patient-oriented science both for the Bronx community and beyond."

The new grant also funds the center's four interdisciplinary scientific cores, which support biomedical, clinical, and translational research on IDDs. The cores include resources for clinical phenotyping, epigenetic and genomic analyses, and neural cell engineering and imaging.