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Alexander Holtz

Alexander Holtz

Attending in Genetics and Genomics, Boston University and Boston Medical Center
I have had the great privilege to work with children and families suffering from rare genetic disorders of the respiratory system. I share their frustrations with the limitations in diagnostic clarity and treatment options for these devastating illnesses. I am dedicating my life as a physician-scientist to confront this injustice by identifying novel genetic causes of pulmonary disease and to leverage the immense power of human induced pluripotent stem cells to develop autologous cell-based therapies. As a member of the MD/PhD program at the University of Michigan, my dissertation work with Dr. Benjamin Allen made seminal advances in our understanding of the Hedgehog signaling pathway by defining an essential network of cell surface inhibitors that act to restrict this key signaling pathway during embryogenesis. I next performed combined residency training in pediatrics and medical genetics at Boston Children's Hospital and Harvard Medical School. I quickly recognized a dire need to apply tools and methods of medical genetics to the field of pulmonary medicine to define novel genetic associations to better understand and treat these diseases. Under the guidance of Dr. Benjamin Raby, I identified a novel autosomal dominant disorder caused by variants in the MYH10 gene that causes a spectrum of neurodevelopmental disorders and multiple congenital anomalies including those with severe respiratory disease. Despite the advances in molecular diagnostics, there remains extremely limited treatment options for individuals suffering from genetic pulmonary disorders. To address this, I am now the lab of Dr. Darrell Kotton who is a world leader in human induced pluripotent stem cell (hiPSC) biology and directed differentiation to lung cell fates. I am leveraging the power of hiPSCs to develop novel disease models and autologous cell-based therapies for pulmonary vascular diseases.