Frontiers in Discovery and Care: Genetics and Genomic Sciences 2025

Frontiers in Discovery and Care: Genetics and Genomic Sciences 2025

Cutting-edge research and clinical innovations from Mount Sinai’s Department of Genetics and Genomic Sciences

The Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai stands at the forefront of transformative biomedical research, bridging the gap between genetic discovery and clinical application. Our department represents a powerhouse of innovation as one of the nation's top NIH-funded genetics programs, with groundbreaking work spanning from Alzheimer's disease mechanisms to rare disease therapeutics.

Our researchers are pioneering the future of precision medicine through revolutionary approaches that integrate artificial intelligence, genomics, and microbiome analysis. We're developing novel therapies for conditions affecting millions—from the 7 million Americans living with Alzheimer's disease to the over 100 million people worldwide suffering from rare genetic disorders. Through initiatives like the PROMISE Consortium for Crohn's disease prevention and the Center for AI-Driven Genomic and Microbiome Medicine, we're redefining what's possible in personalized healthcare.

As one of the nation's top NIH-funded genetics departments, our commitment to clinical translation is exemplified by having completed over 50 clinical trials, including first-in-human gene therapy studies and innovative mRNA treatments. Our researchers are uncovering the genetic roots of previously unexplained diseases, bringing diagnostic closure to families after years of uncertainty. From identifying new neurodevelopmental disorders affecting tens of thousands worldwide to developing 3D organ models for drug testing, our work directly impacts patient lives.

What distinguishes our department is our unique ability to seamlessly integrate bench-to-bedside research with cutting-edge computational approaches. We're leveraging Mount Sinai's diverse BioMe biobank to ensure genetic discoveries benefit all populations, not just those of European ancestry. Our interdisciplinary teams are developing everything from novel biomarkers for early disease detection to AI-powered drug repurposing platforms that can identify new therapeutic uses for existing medications.

The future of medicine is precision medicine, and Mount Sinai's Department of Genetics and Genomic Sciences is leading this transformation. Through our innovative research programs, dedicated Clinical Trials Office, and collaborative approach to complex diseases, we're not just advancing scientific knowledge—we're delivering hope and healing to patients and families worldwide.

What follows showcases the extraordinary breadth and depth of research conducted by the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, highlighting our department's leadership in translating genetic discoveries into clinical solutions.

Our department has established itself as a global leader in genetics research, driven by an unwavering commitment to improving human health through innovative science. As one of the nation's most highly NIH-funded genetics departments, we have built a robust research ecosystem that spans from fundamental genetic discoveries to clinical applications that directly benefit patients.

These pages highlight nine research programs that exemplify our department's impact: uncovering the microglia-mediated mechanisms underlying Alzheimer's disease; revolutionizing rare disease clinical trials through novel therapeutic approaches; harnessing artificial intelligence to power precision medicine for diverse populations; pioneering disease interception strategies for Crohn's disease; integrating genomics and microbiome research for therapeutic discovery; providing diagnostic answers for families affected by rare genetic disorders; advancing precision therapies for metabolic disorders; and developing individualized care approaches through innovative technologies.

Each featured research program demonstrates our department's core strengths: cutting-edge scientific methodology, clinical translation capabilities, and collaborative approaches to complex medical challenges. From Dr. Alison Goate's pioneering work on Alzheimer's disease genetics to the innovative clinical trials led by Dr. Manisha Balwani, our faculty are reshaping the landscape of genetic medicine.

The work highlighted here reflects our department's commitment to serving patients who need us most—those with rare diseases, complex genetic disorders, and conditions that have historically been difficult to diagnose or treat. Through our dedicated Clinical Trials Office, state-of-the-art research facilities, and partnerships with leading institutions worldwide, we are transforming the promise of precision medicine into reality.

These stories serve as a testament to the exceptional work being conducted by our faculty, staff, and trainees, and highlight the significant impact our research has on advancing human health and improving patient outcomes globally.