The Department of Genetics and Genomic Sciences (GGS) and the Icahn Genomics Institute (IGI) at the Icahn School of Medicine at Mount Sinai are deeply committed to translating genomic discoveries into therapies that improve patients’ lives. Our faculty lead drug development efforts that span from preclinical innovation to pivotal clinical trials, with a strong focus on rare genetic diseases, neurodegeneration, metabolic disorders, and precision therapeutics.
We have a track record of advancing first-in-class therapies through close integration of cutting-edge molecular research, advanced analytics, and clinical expertise.
Highlights of Our Impact:
- Fabrazyme® (Agalsidase Beta): GGS researchers played a pivotal role in the development of this FDA-approved enzyme replacement therapy for Fabry disease.
- Olipudase alfa: Developed as an enzyme replacement therapy for Niemann-Pick Type B, now FDA-approved and transforming care for this rare condition.
- RNA Interference Therapy for Acute Intermittent Porphyria: Our team contributed to the preclinical and clinical development of this FDA-approved therapy, offering a new standard of care for a debilitating disorder.
- Gene Therapy for Fabry Disease: GGS conducted foundational preclinical studies using adeno-associated virus (AAV)–mediated gene delivery, paving the way for current clinical trials.
- Pharmacological Chaperone Therapies: We are developing small molecules that stabilize misfolded proteins, opening new treatment avenues for a range of genetic diseases.
- Congenital Disorders of Glycosylation (CDG): GGS faculty have developed diagnostic tools, algorithms, and therapeutic approaches for CDG, advancing early detection and intervention.
Clinical Trials Infrastructure
Our dedicated Genetics Clinical Trials Office has supported more than 50 clinical studies, including investigator-initiated trials, industry-sponsored protocols, and first-in-human interventions. This infrastructure enables rapid translation of laboratory discoveries into clinical applications—particularly for underserved patient populations affected by rare diseases.
By combining world-class expertise in genomics, bioinformatics, and experimental therapeutics, GGS is accelerating the path from bench to bedside - bringing genetically informed therapies to the patients who need them most.