Patient Spotlight: Fabry Disease & Gene Therapy, Mount Sinai's Division of Medical Genetics

Join us on a journey to @MountSinaiNYC , where patients with rare disorders find a home for diagnosis and care. Our patient Joe Mescher discovered he had a rare genetic condition called Fabry disease after some abnormal findings during his daughter's routine eye exam. He found expertise in Fabry disease and clinical trials at Mount Sinai's Division of Medical Genetics under the care of Dr. Jaya Ganesh.
Mount Sinai's dedication to promoting treatment for rare diseases includes a Genetics Clinical Trial Office that supports cutting-edge clinical trials for patients with rare diseases, including gene therapy. Gene therapy has become a crucial part of early-stage clinical trials, offering the possibility of transforming and curing these disorders.
Joe shares his hope for a cure and his determination to contribute to the progress of treatments for others, including his daughter.
At Mount Sinai, patients with rare disorders receive not just a diagnosis but comprehensive care. New discoveries and research into genetics and genomics and world class care and clinical trials are leading us to new treatments and cures for a multitude of rare and even well-understood diseases, and Mount Sinai is leading the way.
Mount Sinai's Division of Medical Genetics is a National Organization for Rare Diseases Center of Excellence. Learn more at www.mountsinai.org/care/genetics