Research

Research conducted at The Mindich Child Health and Development Institute emphasizes the role of genetics and genomics in understanding the pathogenesis of pediatric diseases. We maximize the use of genetic information to improve the lives of children through the development of new therapies, the tailoring of existing drugs to maximize efficacy and minimize adverse effects, and by rationalizing population-level interventions related to environmental exposures. To achieve all the above, we harness the collective expertise of researchers, clinicians, and institutes across the Icahn School of Medicine at Mount Sinai.

In addition to studying the pathogenesis of prevalent pediatric conditions, we explore pediatric diseases exhibiting complex genetic patterns, such as neurodevelopmental disorders and certain birth defects. We also investigate the intricate interplay between children's genetic makeup and their environment, especially as it correlates with conditions like asthma, allergy, obesity, and developmental outcomes.

Our Research Initiatives

The Center for Child Health Services Research serves as a pioneering hub for investigating pediatric health care systems. The Center’s mission is to catalyze interdisciplinary collaboration, foster innovation, and drive impactful research within and beyond Mount Sinai Health System.

In partnership with various departments, institutes, and governmental agencies, we focus on enhancing the quality, efficiency, and equity of health care services for children. Our core areas of expertise include provider dynamics, payment systems, policy analysis, health care value assessment, and improving access for underserved populations.

As a premier child health services research center, we are dedicated to leveraging Mount Sinai's existing strengths in health care research and data analytics while cultivating a vibrant network of diverse experts. From clinicians to health economists, epidemiologists, and data scientists, our collective goal is to propel pediatric health care forward, ensuring the well-being of all children.

Development Institute is advancing the application of precision medicine with the aim of transforming care for pediatric patients. This Initiative harnesses state-of-the-art genomic technologies and individualized patient data to accurately diagnose complex conditions, predict disease outcomes, and tailor treatments. Our key partners within Icahn Mount Sinai include the Departments of Pediatrics and Genetics and Genomic Sciences, as well as the Icahn Institute for Genomics and Multiscale Biology, The Charles Bronfman Institute for Personalized Medicine, and the Marc and Jennifer Lipschultz Precision Immunology Institute.

The Pediatric Precision Medicine Initiative is particularly impactful for disorders with strong genetic underpinnings, such as birth defects, neurodevelopmental delays, and inborn errors of immunity, which often manifest during childhood and adolescence. By utilizing high-capacity DNA sequencing and comparing a child's genome to their parents', our team often pinpoints rare, disease-causing mutations with unprecedented precision.

This innovative approach has already proven successful in solving complex medical mysteries, identifying known disease genes presenting in unexpected ways, and discovering novel genes. The Initiative offers this cutting-edge precision medicine approach to infants, children, and teenagers with challenging medical conditions, while training future pediatricians in the effective application of genomic medicine.

With a deep understanding of the considerations involved in conducting trials with pediatric populations, the Pediatric Clinical Trials Office provides comprehensive support to researchers across the Mount Sinai Health System.

Our services encompass regulatory guidance, budgeting, and operational support, all tailored to the specific needs of pediatric clinical trials. From study design and consent processes to patient recruitment and dosage calculations, we ensure that pediatric trials conducted adhere to the highest ethical standards.

By partnering with the Clinical Trials Office in Internal Medicine, we offer streamlined services that support investigator-initiated, industry-funded, and federally-funded trials. The Office’s goal is to enhance and expand current efforts, foster the development of future initiatives, and reduce the time and costs associated with implementing novel therapeutics, ultimately improving the health and quality of life of children through cutting-edge research.

The Functional Genomics and Disease Modeling Core takes an innovative approach to studying rare Mendelian and genetic diseases. Sponsored jointly by The Mindich Child Health and Development Institute and the Department of Cell, Developmental and Regenerative Biology, this core utilizes Drosophila (fruit fly) disease models to unravel the underlying cellular mechanisms and signaling pathways involved in these conditions.

Through integrated cellular signaling analysis, high-throughput whole animal drug screens, and functional genomic modifier analysis, the core aims to gain a deeper understanding of disease mechanisms. This functional genomics approach not only elucidates the molecular underpinnings of rare diseases but also facilitates the identification of potential therapeutic targets and novel treatment strategies.