Results for Human Genetics

Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.

Dr. Wallace is a geneticist and evolutionary biologist who founded the field of mitochondrial medicine 40 years ago. He investigates the role of mitochondria in human evolution, health, and disease.

Dr. Campbell is interested in approaches to improve diagnosis of children with rare genetic diseases. He also focuses on better understanding of the full spectrum of symptoms associated with genetic diseases as well as discovering new diseases.

Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.

Dr. Zemel's overall research program aims to improve the understanding of lifelong health and how it relates to childhood antecedents of physical growth and maturation, body composition, population ancestry/genetics, and lifestyle factors. Such insight has practical implications for disease prevention and lifelong wellness, as well as broader scientific implications for understanding human plasticity and evolution.

Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.

Dr. Edmondson is an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP, and an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the study of glycosylation in the brain.

Dr. Luo’s clinical research involves employing a variety of techniques to evaluate genetic and genomic alterations for integrated diagnosis of both constitutional disorders and cancer, and to understand the mechanisms of genomic changes.

Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease.  His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.