Joy Tanaka, PhD
Medical Reviewer
Joy Tanaka, PhD, specializes in clinical molecular genetics. She is dedicated to integrating excellent clinical care with cutting-edge medical research for patients with rare and undiagnosed disorders, and is focused on pursuing questions at the interface between genetics and human disease with the goal of developing novel therapies and treatments.
Dr. Tanaka received her PhD from Yale University School of Medicine, where she was a Howard Hughes Medical Institute Medical Research Scholar and recipient of the George Robert Pfeiffer Fellowship for Translational Medicine. She completed her clinical fellowship in cytogenetics and clinical molecular genetics at Columbia University and New York Presbyterian Hospital, and is currently associate clinical laboratory director at Rady Children's Hospital Institute for Genomic Medicine in San Diego, California.
Samuel Mackenzie, MD, PhD
Medical Reviewer
Samuel Mackenzie, MD, PhD, is an Assistant Professor of Child Neurology, Neuromuscular Disease, and Neuroscience at University of Rochester Medical Center. He completed his undergraduate studies at Cornell University before earning a master's degree in exercise science at the University of Delaware and his MD and PhD degrees at SUNY Upstate Medical University. He completed residency in child neurology at the University of Michigan and fellowship in neuromuscular medicine at The Ohio State University and Nationwide Children's Hospital.
Dr. Mackenzie's research interests broadly involve developing new ways to restore motor function in patients with neurological disease and developing gene-based treatments for patients with neuromuscular conditions. He also has an interest in health policy and advocacy, specifically as these relate to how scientific discoveries can best be leveraged for societal good in an equitable and cost-effective manner.
Anna C.E. Hurst, MD, MS, FACMG
Medical Reviewer
Dr. Hurst is a physician for the UAB Undiagnosed Disease program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children’s of Alabama for general genetics and inborn errors of metabolism. She also is the medical geneticist for the Smith Family Clinic for Genomic Medicine in Huntsville, Alabama.
Hurst's research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs. She also has an interest in how the patient’s physical exam and facial features can be clues to a rare disease diagnosis (dysmorphology) and serves on the scientific advisory board of Facial Dysmorphology Novel Analysis. She has published over 45 peer-reviewed articles in the field of medical genetics, largely focused on the clinical delineation of rare disease phenotypes. She also serves as an associate editor for the American Journal of Medical Genetics.
Hurst is also passionate about education and serves as the program director of the UAB genetics residency programs (categorical, pediatrics-genetics, and internal medicine-genetics) and medical director of the UAB Genetic Counseling Training program. She is an officer with the Association of Professors in Human Medical Genetics.
ALL MUSCULAR DYSTROPHY ARTICLES
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