Mustafa Sahin

We’re honored that Dr. Sahin has been elected to the National Academy of Medicine for 2023, for his world-leading expertise in the neurobiology of autism and pioneering translational studies for neurogenetic disorders. His work has identified mechanisms by which tuberous sclerosis leads to mis-wiring of neurons, leading to the identification of potential therapies for this and related disorders.

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I have dedicated my career to investigating the basic mechanisms by which nerve cells communicate with one another and caring for patients with neurological conditions in whom these processes have gone awry. During my PhD work, I studied a group of enzymes expressed in the developing brain. This immersion in neurodevelopment contributed to my decision to pursue child neurology training. After training as a child neurologist, I returned to the lab and investigated basic mechanisms of how the brain gets wired.

As an independent physician-scientist, I turned my focus to Tuberous Sclerosis Complex (TSC), a neurogenetic disorder associated with epilepsy, intellectual disability and autism. My laboratory has identified several steps during brain development in which genes that cause TSC play crucial roles. As director of the multi-disciplinary TSC clinic at Boston Children’s Hospital (BCH), I am in a unique position to translate our basic science findings to TSC patients. My goal is to translate insights gained from studying brain development to improvements in patient care through early detection, treatment and prevention of problems associated with TSC and related neurological diseases.

Dr. Sahin serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.