Communications from the Chief Scientific Officer

We are delighted to announce the appointments of Eric Marsh, MD, PhD, and Kiran Musunuru, MD, PhD, MPH, ML, MRA as co-Directors of the Orphan Disease Center (ODC), an important, unique, and impactful partnership between the Perelman School of Medicine (PSOM) at the University of Pennsylvania and Children’s Hospital of Philadelphia (CHOP).  The ODC unites leading experts in basic, translational, and clinical research to accelerate breakthroughs in rare diseases affecting fewer than 200,000 individuals in the U.S.

Dr. Marsh, who served as interim director of ODC with prior service as the clinical director, is a Professor of Neurology at CHOP and a Professor of Neurology and Pediatrics at PSOM.  Dr. Musunuru, Director of the Penn Cardiovascular Institute's Genetic and Epigenetic Origins of Disease Program, is the Barry J. Gertz Professor for Translational Research at PSOM.  Both are national leaders in their respective fields and highly regarded scientists in rare disease research.

Dr. Marsh's research program focuses on understanding how changes in brain development lead to epilepsy, intellectual disability, and autism. He combines molecular and physiological tools in mouse models to ask questions about the interaction of normal development with single gene mutations to determine how the brain responds to perturbations in development.  He has also been involved in several clinical trials for children with developmental and epileptic encephalopathies.

Dr. Musunuru’s research focuses on the development of novel gene editing therapies for the treatment of cardiovascular and metabolic diseases. He, along with Dr. Rebecca Ahrens-Nicklas, co-led a team of Penn and CHOP researchers to treat a child diagnosed with a rare genetic disorder with a customized CRISPR gene editing therapy, resulting in a historic medical breakthrough, which was recently recognized among the nation’s top clinical research advances. In addition to his robust research program and active clinical practice, Dr. Musunuru is a committed teacher and mentor.

Established in 2011, the ODC is a nationally and globally recognized hub for rare disease research, collaboration, and advocacy. Through its Centers of Excellence—including those for Mucopolysaccharidosis Disorders, Castleman’s Disease, and CDKL5 Deficiency—the ODC drives discovery, shapes therapeutic development, and fosters partnerships with foundations, clinicians, scientists, patients, families, and industry.

In their new roles as co-Directors of ODC, Drs. Marsh and Musunuru will foster and build partnerships between Penn and CHOP, further enhancing multidisciplinary collaborations and accelerating translational impact.

We thank Dr. George Cotsarelis and the Search Committee for their time and efforts.  Please join us in congratulating Drs. Marsh and Musunuru on their appointments as ODC co-Directors as they work to further strengthen the partnership and impact of Penn and CHOP discoveries.

E. Michael Ostap, PhD

Professor of Physiology

Senior Vice Dean and Chief Scientific Officer,

Perelman School of Medicine at the University of Pennsylvania

and

Susan Furth, MD, PhD

Edmond F. Notebaert Endowed Chair in Pediatric Research

Executive Vice President and Chief Scientific Officer,

Children's Hospital of Philadelphia