Professor of Pediatrics
Professor of Genetics
Professor of Neurology
Jonathan Cooper, PhD, (Professor of Pediatrics, Genetics and Neurology) is neuroscientist and neuropathologist who has been studying the pathogenesis of the neuronal ceroid lipofuscinoses (NCLs or Batten disease) and other lysosomal storage disorders for more than 20 years. His lab works to understand these diseases, and use this information to help design more effective therapies. He organized NCL 2021, the highly successful International Congress on NCL Research and is active in the rare disease community. He works closely with Batten disease foundations to organize family accessible science sessions, most notably at the Batten Disease Support, Research and Advocacy (BDSRA) Foundation annual family conferences.
Professor of Pediatrics, Division Chief - Division of Genetics and Genomic Medicine
Centennial Professor of Genetics, Centennial Professor of Pediatrics
Clinical profile: physicians.wustl.edu/people/patricia-dickson-md
Research profile: profiles.wustl.edu/en/persons/patricia-dickson
Patricia Dickson, MD, is the Centennial Professor of Pediatrics at Washington University School of Medicine. She also is professor of genetics and chief of the Division of Genetics and Genomic Medicine in the Department of Pediatrics. Her research focuses on pathogenesis and novel therapy development for central nervous system disease due to the genetic disease, mucopolysaccharidosis. She has been successful in bringing some of these therapies to clinical trials. To date, Dickson’s work has led to 80 publications and has been cited nearly 2,000 times. Her honors include the National Institutes of Health National Research Service Award Fellowship and the Richard B. Weitzman Memorial Award for Meritorious Research. She was elected to the American Society for Clinical Investigation. She is a diplomate of the American Board of Pediatrics and the American Board of Medical Genetics and Genomics.
Vice-President of The Mitchell and Friends Foundation
Michele Herndon is the co-founder and vice-president of the Mitchell and Friends Foundation. The foundation raises awareness of Mitchell Syndrome, promotes research into possible treatments, and offers support to patients and families affected by Mitchell Syndrome. This newly discovered disease was discovered in part through information learned from Michele’s oldest son, Mitchell, who was the first patient identified. Professionally, Michele has been a pediatric nurse since 2005 and is currently a nursing manager for St. Louis Children’s Hospital in pediatric trauma and injury prevention.
Nurse Practitioner, Pediatric Genetics
Clinical profile: physicians.wustl.edu/people/kathleen-sisco-rn-cpnp
Kathleen Sisco is a Pediatric Nurse Practitioner in the Division of Genetics and Genomic Medicine. Along with her clinical practice, she is also the site coordinator for the Undiagnosed Diseases Network at Washington University. Sisco has over 20 years of experience working with children and families. She has a background in primary care and child psychiatry, and is an expert in the areas of developmental delay and metabolic disorders.
Professor of Medicine
Professor of Pathology and Immunology
Samuel E Schechter Professor of Medicine
Fumihiko “Fumi” Urano, MD, Ph.D., is a physician and medical researcher specializing in Wolfram syndrome, characterized by juvenile-onset diabetes, vision loss, and brain system disruption. Urano is a Professor of Medicine and Pathology & Immunology, an attending physician, and currently holds Samuel E. Schechter Endowed Professorship in Medicine at Washington University School of Medicine. Urano is a driving force in the study of Wolfram syndrome and Wolfram-spectrum disorders. As the Director of the Wolfram Syndrome International Registry and Clinical Study and WFS1 Clinic at Washington University Medical Center, He has been leading the clinical, translational, and interventional studies of Wolfram syndrome and Wolfram-spectrum disorder. His collaboration with colleagues at the medical center and around the world has allowed him to develop cutting-edge treatments for this disease, including gene therapy and regenerative therapy. He was elected to the American Society for Clinical Investigation. He is a diplomate of the American Board of Medical Genetics and Genomics and a member of the NORD multisite research working group.
Associate Professor of Pediatrics, Newborn Medicine
Clinical profile: physicians.wustl.edu/people/jennifer-a-wambach-md-ms
Research profile: profiles.wustl.edu/en/persons/jennifer-wambach
Jennifer Wambach, MD is a clinically active neonatologist and has a longstanding interest in understanding the genetic causes of birth defects and extreme phenotypes in infants and children. Her research goals are (1) to use genomic sequencing technologies to identify the etiologies of birth defects and extreme phenotypes among infants and children and (2) to use functional studies to determine the disease mechanisms underlying these rare diseases. Specifically, this research laboratory focuses on the identification and functional characterization in cell-based systems for genetic disorders of surfactant metabolism which cause severe neonatal respiratory failure in term infants and childhood interstitial lung disease (chILD) in infants and children.