RARE Daily

A $25 Million Gift Establishes Center of Excellence for Williams Syndrome at Penn Medicine

June 6, 2022

Michael Armellino, a University of Pennsylvania alum, has made a $25 million gift to establish a center of excellence for Williams Syndrome at Penn Medicine to serve as a model for coordinated care across the lifespan, as well as to provide social support and pioneer research for individuals with the rare, genetic condition.

Williams syndrome is caused by deletions on chromosome 7q11. Children with Williams syndrome generally have unusual social abilities while also navigating intellectual disability, anxiety, executive function challenges, predisposition for cardiovascular and metabolic disease, and a variety of other medical conditions.

The Williams syndrome deletion on chromosome 7q11 includes 27 genes, but the effect of the deletion of most of these genes is not understood. Scientific discovery through the center will deepen understanding of the roles of multiple genes underlying Williams syndrome, will accelerate translational research in novel diagnostics and therapeutics for Williams syndrome, and will permit the detailed study of individuals with Williams syndrome throughout the lifespan. Rapid scientific advances present major opportunities to gather and analyze data in new ways, allowing researchers to better understand how deletion of specific genes lead to particular Williams syndrome symptoms and point to new pathways for therapeutic development.

Penn Medicine will collaborate closely with Children’s Hospital of Philadelphia (CHOP), which is home to one of the largest Williams syndrome clinics in the country, to enhance clinical and social services and advance scientific discovery to encompass the social, psychological, genetic, metabolic, and clinical complexity of Williams syndrome.

Armellino, a resident of New Jersey who is retired after a long career at Goldman Sachs, has three sons and seven grandchildren. Armellino’s partner, Beverly Karch, has a granddaughter, Maelyn, who is living with Williams syndrome, as well as a grandson.

“This gift is my way to advance genetic research and to help create a bright future for individuals with Williams syndrome,” said Armellino.

“The Armellino Center of Excellence for Williams Syndrome will be a hub and international model for clinical care and research but, most importantly, it will be a welcoming home for those touched by this condition,” said J. Larry Jameson, executive vice president of the University of Pennsylvania for the Health System and dean of the Perelman School of Medicine. “Individuals with Williams syndrome face physical and intellectual challenges, coupled with a complex and uneven clinical care landscape. Long into the future, this generous gift will pave the way for improved care and scientific breakthroughs that will help us better care for individuals with Williams syndrome, creating the highest possible quality of life for this community.”

Establishment of the new center will be overseen by Daniel Rader, chair of the Department of Genetics and chief of the Division of Translational Medicine and Human Genetics in the Department of Medicine at the Perelman School of Medicine at Penn. Rader also serves as chief of the Division of Human Genetics in the Department of Pediatrics at CHOP, where the Williams syndrome clinic is directed by Sanmati Cuddapah.

Jocelyn Krebs, former president of the Board of Trustees for the Williams Syndrome Association and a researcher who studied a gene in the Williams syndrome deletion before having a child of her own with Williams syndrome, is helping to launch the Armellino Center. An international recruitment process for a founding director of the Armellino Center is actively underway.

Author: Rare Daily Staff

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