Published on in CHOP News
Can Ficicioglu, MD, PhD , a physician-scientist who is an expert in genetic disorders called inborn errors of metabolism, was appointed by the Pennsylvania Department of Health to a statewide Rare Diseases Advisory Council.
In this role, he will work with state officials, other healthcare professionals, parents of children with rare diseases, researchers and other experts to advise the Pennsylvania legislature and relevant agencies about policies and programs relevant to services for patients with rare diseases. The Commonwealth of Pennsylvania established the Rare Diseases Advisory Council earlier this year.
Many metabolic diseases are rare, inherited conditions in which a child is born with a missing or defective enzyme required for normal health and development. Newborn screening is important because detecting such diseases at birth may allow for early treatment to prevent premature death and reduce lifelong disability.
Dr. Ficicioglu is Director of the Newborn Metabolic Screening Program and the Lysosomal Storage Diseases Program in the Division of Human Genetics at Children’s Hospital of Philadelphia. He also is an Associate Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
He seeks to provide the most effective cutting-edge treatments to patients through participating in disease registries, collaborating in clinical trials, and publishing research on patient outcomes.
Dr. Ficicioglu will work with other members of the advisory council to establish protocols for tracking rare diseases, to raise public awareness of these diseases, and to identify priorities and develop policy recommendations regarding treatment and other services for patients.
Contact: The Children’s Hospital of Philadelphia,