Clinical Genetic Disorders Program at Mount Sinai | Finding Answers for Rare Conditions скачать в хорошем качестве

Clinical Genetic Disorders Program at Mount Sinai | Finding Answers for Rare Conditions

When a child has unexplained developmental or medical concerns, getting a clear diagnosis can be hard — there are thousands of genes that can contribute to rare and complex conditions. In this video, program leaders Cassie Mintz, MD and Mafalda Barbosa, MD, PhD share how Mount Sinai’s Clinical Genetic Disorders Program helps families find answers and build a plan for care. Our team evaluates children and adults with known or suspected genetic conditions using a detailed medical and family history, review of prior records and testing, and a focused physical exam — because subtle clinical features can provide important clues. Based on the evaluation, we may recommend genetic testing (such as chromosome or DNA-based tests) to help identify the underlying cause. A diagnosis can guide medical management, support the right screening and prevention strategies, reduce unnecessary testing, and connect families with resources and support communities. Mount Sinai also offers coordinated, multidisciplinary care, working closely with specialists across the health system, and bridges patients to research opportunities when appropriate. Learn more at: https://www.mountsinai.org/care/genet...