With a vision to strategically bridge the gap between pediatric and adult care for individuals with Williams syndrome, a $25 million gift from Michael R. Armellino will establish the Armellino Center of Excellence for Williams Syndrome 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 genetic condition.
Williams syndrome, which is caused by deletions on chromosome 7q11, affects one in every 7,500 people. 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. Seeking to develop a comprehensive program that meets the needs of patients with Williams syndrome and their families throughout all stages of life, 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.
“Maelyn, along with her younger brother and my grandchildren, are the lights of my life,” Armellino says. “I am so impressed by Maelyn’s parents Jenna and Corey, and all the parents I’ve met who are part of the Williams syndrome community. This gift is my way to advance genetic research and to help create a bright future for individuals with Williams syndrome.”
The new Armellino Center aims to ensure robust and expanded clinical experiences for individuals with Williams syndrome that exceed the current standard of care. This will include integrated lifelong clinical care, behavioral health and executive function support, and social services coordination. The center will also spearhead basic, translational, and clinical research in Williams syndrome.
“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,” says 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.”
Penn Medicine and CHOP are the ideal places to integrate clinical care and biomedical research for Williams syndrome across the lifespan. Establishment of the new center will be overseen by Daniel J. 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. 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.
“I’ve dedicated my career to stimulating collaborations that bring together some of the best clinicians and scientists from various disciplines to focus on common goals,” Rader says. “Combining our passion for excellent care and discovery with the enthusiastic Williams syndrome community will lead to more support, advocacy and—hopefully—more answers than ever before.”
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.
“CHOP and Penn Medicine have a long history of collaboration to provide a continuum of care for patients with rare conditions like Williams syndrome,” says Joseph W. St. Geme, physician-in-chief, chairman of the Department of Pediatrics, and the Leonard and Madlyn Abramson Endowed Chair in Pediatrics at CHOP. “Our multispecialty Williams Syndrome clinic has provided critical services for many pediatric patients, and this new center will allow us to meet all of their care needs as they transition from childhood through adulthood.”
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 and CHOP recently hosted a symposium, “Coming Together Around Williams Syndrome,” which was co-chaired by Rader and Krebs. This year, the symposium was followed by a celebration of the Kim Fund for Research in Williams syndrome and the Armellino Center of Excellence for Williams Syndrome.