PHILADELPHIA—The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania has established three new Programs of Excellence that will focus on innovative gene therapies to treat rare immune, lymph node, and growth disorders.
“The Programs of Excellence represent our disease areas of focus,” said James Wilson, MD, PhD, director of the Orphan Disease Center and its affiliated Gene Therapy Program. “We are delighted to add three new programs, which are led by outstanding physician scientists in diseases where there is substantial unmet need and opportunities to advance science towards the development of cures.”
An orphan disease is a condition that affects fewer than 200,000 people nationwide, such as cystic fibrosis, Lou Gehrig's disease, and Tourette's syndrome. Penn’s Orphan Disease Center conducts and supports diagnosis, research, treatment, and education for a variety of rare medical conditions. Each Program of Excellence focuses on a disease or cluster of related rare diseases to support new treatments through common therapeutic platforms, such as therapeutic antibodies, stem cells, gene therapy, and gene editing. The programs also support drug development and work with patients and patient groups to ensure a thorough understanding of the disease and community needs.
Immune Dysregulation Program of Excellence
The immune system is a multifaceted set of organs, cells, and proteins that work to prevent infection. Abnormalities in the immune system can result in dysregulation, which results in the immune system attacking the body.
The goal of this program is to identify the causes of and treatments for patients with undiagnosed multi-organ disease suspected to result from dysregulated immunity. Activities will include developing an inpatient and outpatient multi-disciplinary clinical team, a multi-disciplinary research team, immunology laboratory, and rapid genetic testing to identify, diagnose, and treat patients with immune dysregulation syndromes.
The new program will also diagnose and develop personalized treatment plans for patients with defined immune dysregulation syndromes, but without well-defined treatment plans. Examples include familial hemophagocytic lymphohistiocytosis and autoimmune lymphoproliferative syndrome, two conditions in which the immune system produces an excess of activated immune cells. The program’s principal investigator is Edward Behrens, MD, the Joseph Lee Hollander Chair in Pediatric Rheumatology, at the Children’s Hospital of Philadelphia.
Castleman Disease Program of Excellence
Castleman disease is a rare disease of lymph nodes and related tissue. It is characterized by an abnormal overgrowth of cells of the lymph system that is similar to lymphomas (cancers of lymph nodes). While Castleman disease is not a cancer, in one form of this disease (multicentric Castleman disease) patients eventually develop lymphomas
The program will have four focus areas: basic research, translational research, education, and clinical trials. It will target efforts on all subtypes of Castleman disease as well as related inflammatory lymph node disorders. The program’s principal investigator is David Fajgenbaum, MD, an assistant professor of Translational Medicine and Human Genetics and co-founder and executive director of the Castleman Disease Collaborative Network.
Beckwith-Wiedemann Syndrome Program of Excellence
Beckwith-Wiedemann syndrome is a genetic and epigenetic disorder commonly characterized by overgrowth and increased risk for cancer. Aspects include large birth weight and length; enlarged kidneys, liver, pancreas, and/or tongue; one side of the body growing more than the other side; and an increased risk of developing certain cancers during childhood.
Aims of this program include improving the quality of care of patients, increasing understanding of the syndrome and its causes, and developing targeted therapies. Activities include developing research programs to improve understanding, diagnosis, and treatment of the disease; expanding the registry of patients with the syndrome; integrating clinical data and tissue samples into research databases and repositories; and developing educational material to explain Beckwith-Wiedemann Syndrome to families and health care providers. The program’s principal investigator is Jennifer M. Kalish, MD, PhD, director of the Beckwith-Wiedemann Syndrome Program at Children’s Hospital of Philadelphia and an assistant professor of Pediatrics.
Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.
The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.
The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
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