Our expanding Institute is home to faculty who are subject matter experts in diverse areas of multidisciplinary research, including allergy and asthma, cardiovascular disease, neurodevelopmental disorders, obesity and diabetes, and more. Physician-scientists and scientists at MCHDI work in a multidisciplinary manner with researchers and physicians in various departments and institutes at the Icahn School of Medicine at Mount Sinai. Together, we strive toward the objectives of developing robust paradigms for understanding the effects of genetics and environment on the health of infants, children and adolescents, and personalizing pediatric medicine through genetics and genomics.
The past decade has witnessed unprecedented advances in our understanding of diseases primarily affecting infants, children, and adolescents. The engine for the rapid discovery of the causes of pediatric disorders has been genomics, particularly the deciphering of the complete DNA code of the human genome. Thousands of simply inherited medical traits, many described decades or even centuries before, have now been explained. Armed with the knowledge of root cause, translational researchers have developed genetic tests to hone diagnostic and prognostic accuracy as well as innovated with therapies that improve the quality and length of the lives of youngsters once tragically limited.
Many of the greatest challenges to human health, particularly illnesses of childhood, have strong genetic components but are not inherited in simple patterns. Until now, such disorders have defied scientific inquiry. The most recent technologic advances, particularly for DNA sequencing, have brought us to a breathtaking juncture: It is now possible to sequence all of the protein-encoding portions of the human genome in a matter of days and widely anticipated that entire human genomes will be affordably decodable in just a few years.
With great genomic advances come remarkable translational research possibilities. Prevalent pediatric diseases such as neurodevelopmental disorders and certain birth defects, which exhibit complex genetic patterns, are becoming tractable for gene discovery efforts. Pharmacogenomics—the study of how genes control the efficacy and side effects of particular drugs—will drive tailored therapy for common pediatric illnesses such as infections requiring antibiotics and highly specialized care such as chemotherapy for childhood leukemias. The interface between a child’s genetic make up and his/her environment, important for increasingly prevalent conditions such as asthma and obesity, can be explored robustly.