Since my training years, my interest has been the unusual or partial presentations of genetic syndromes. I acknowledge the power of a gene mutation to change many biological functions and induce devastating disease. However, I think that the complexity of the human goes a long way in modifying the consequences of a genetic alteration to the point that a genetic disease differs from individual to individual. I am interested in these differences because they may show us the path to treatments.
Dr. John Pappas, MD is a clinical genetics doctor who practices in New York, NY. He is 55 years old and has been practicing for 32 years. Dr. Pappas is affiliated with NYU Langone Medical Center .