"Which Doctor Can Help With Genetic Diseases?" - Elaine K. Howley
Genetic diseases are relatively rare; our chromosomes and genes have mechanisms to repair damage and prevent problems in many instances. But occasionally, these genetic diseases can manifest in babies or adults and require appropriate care. “These diseases all result from mutations in various genes that affect metabolic pathways and ultimately cause disease,” said Edward Schuchman, PhD, professor of genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai. He said these mutations can lead to dysfunctions of proteins that cause “abnormal metabolism” in the cells, which in turn can lead to “a build-up of a particular metabolite or a depletion of a metabolite. Ultimately it causes pathology and disease. And clinically you can imagine the severest cases are the ones that come to the forefront the soonest.” Now, medical geneticists are “the specialists who take care of patients with genetic diseases,” said George Diaz, MD, PhD, professor of pediatrics, genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai. Medical geneticists can finalize a diagnosis and may be able to coordinate care with other physicians, nutritionists, social workers or other care providers.
- Edward H. Schuchman, PhD, Professor, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
- George A. Diaz, MD, PhD, Professor, Genetics and Genomic Sciences, Pediatrics, Icahn School of Medicine at Mount Sinai