Daniel J Driscoll, MD, PhD

Dr. Driscoll is a tenured Professor in the Division of Genetics and Metabolism (Department of Pediatrics) and the John T. and Winifred M. Hayward Professor of Genetics Research at the University of Florida College of Medicine. He became faculty at the University of Florida College of Medicine in 1989 after finishing his Medical Genetics fellowship at the Johns Hopkins Hospital in Baltimore, Maryland.

He received his B.A. (with Honors in Biology) from Colgate University; M.S. in Genetic Counseling from Rutgers University; M.D. from Albany Medical College; Ph.D. in Medical Genetics from Indiana University School of Medicine; and did his Pediatric residency and Medical Genetics fellowship at the Johns Hopkins Hospital. He has received board certifications from the American Board of Pediatrics and the American College of Medical Genetics and Genomics (subspecialties in Clinical Genetics, Clinical Cytogenetics, and Clinical Molecular Genetics).

He has been conducting clinical and laboratory research on Prader-Willi syndrome since the late 1980’s. He has been a major contributor to the understanding of the genetics of Prader-Willi syndrome (PWS) and genomic imprinting in the PWS region, as well as to the elucidation of the natural history of PWS. His group developed the technique (DNA methylation analysis) that is now widely used to diagnose PWS and also elucidated the “Nutritional Phases of PWS” that has gained wide acceptance by experts around the world.

Dr. Driscoll has been passionate at improving the lives of those with Prader-Willi syndrome and childhood obesity. He has been a major spokesperson on PWS in the US and internationally. He was the principal investigator for the PWS component of an NIH funded 12 year national Rare Disease Center grant on the “Natural History of PWS”. He is currently Chair of the Clinical and Scientific Advisory Board for the International Prader-Willi Syndrome Organization (IPWSO) which represents over 100 countries around the world. Previously, he was Chair of the Clinical Advisory Board for the national Prader-Willi Syndrome Association (PWSA-USA) for 23 years and was a member of the Board of Directors for 21 years

He has have received multiple awards and honors during his career including a Basil O’Connor Starter Scholar Research Award from the March of Dimes, University of Florida Research Foundation Professorship Award, a Doctoral Dissertation Adviser Mentoring Award at the University of Florida, and he was the first faculty member at the University of Florida to be awarded an NIH K24 Midcareer Patient-Oriented Investigator Award.

He has had continuous extramural research funding for over 30 years from a number of sources including the NIH, Department of Defense, March of Dimes, PWSA-USA, Foundation for Prader-Willi Research, and the Hayward and Schiller Foundations. This has led his lab to make several seminal contributions to the fields of Prader-Willi syndrome, Angelman syndrome, genomic imprinting, and early childhood obesity. Due to these contributions, he was elected into the Society of Scholars at the Johns Hopkins University which “honors individuals who completed training at Hopkins and who have achieved marked professional or scholarly distinction in their fields”.

Our Pediatric Genetics clinics see a wide variety of patients with various conditions including birth defects, chromosomal abnormalities, genetic syndromes, and inborn errors of metabolism, as well as being one of the 3 regional centers in Florida for Newborn Screening. Our group is one of the leading centers in the world for Prader-Willi syndrome.

The overarching goal of Dr. Driscoll’s research is to blend meaningful discoveries at the laboratory bench and the patient’s bedside which ultimately will result in significant beneficial treatments for both children and adults. His research interests are focused in three interrelated areas that combine his clinical and basic science expertise; Genomic imprinting/Epigenetics; Prader-Willi syndrome; and early-onset major obesity (EMO).

Prader-Willi syndrome (PWS) is the most frequently diagnosed genetic cause of obesity and it is the result of a derangement in genomic imprinting. Our lab is using PWS as a model system to better understand both childhood obesity and the phenomenon of genomic imprinting.