Overview
The Division and Program for Human Genetics at Cincinnati Children's Hospital Medical Center has four major areas: clinical, laboratory services, teaching, and research. The divisional goals are directed to the immediate and long term provision of state-of-the-art medical care and treatment for individuals and families afflicted with heritable disorders.
Clinically, the Division provides regional and national referral for comprehensive diagnostic, counseling, treatment and management services through multidisciplinary teams. These include: Board Certified Medical geneticists, clinical cytogeneticists, clinical molecular geneticists, clinical metabolic/biochemical disease specialists, genetic counselors, genetic nurse specialists as well as other medical care professionals. Specialty clinics within the Division and Program for Human Genetics include: Pediatric and Adult Neurofibromatosis, Heredity Connective Tissue, Metabolic Diseases, Velo-Pharyngeal Insufficiency, Prenatal, Craniofacial (Multidisciplinary, and Infants and Toddlers), Tuberous Sclerosis (with Neurology), Hereditary Cancer, and Lysosomal Storage Diseases.
Training within the Division and Program for Human Genetics focuses on MD and PhD post-doctoral fellows, and genetic counselors (MS program) attaining Certification by the American Boards of Medical Genetics and Genetic Counseling, respectively. The division houses one of about 23 RRC approved sites for residency training in Medical Genetics. The Division and Program for Human Genetics hosts a unique program for nurses directed to increasing genetic awareness and content in RN preparatory programs. Pre-doctoral and post-doctoral PhD training focuses on developing physician/scientists with independent research careers.
Research activities focus on:
- defining the genetic and gene-environment influences on human diseases,
- improving tests for cytogenetic and molecular diagnosis,
- elucidating the cellular, biochemical and molecular pathogenesis of heritable diseases, and
- developing effective gene based therapeutic strategies for affected families with emphasis on prototypical lysosomal storage diseases and connective tissue disorders.
The long term objectives of the Division are to enhance diagnostic, clinical and training environments, to apply molecular technologies to the elucidation of disease mechanisms, and to the development of treatment for heritable diseases and inherited disease susceptibilities; i.e., interventional genetics.
