Cynthia Tifft

Dr. Tifft’s clinical and research interests for many years have been lysosomal disorders affecting the central nervous system. She is the principal investigator of a longitudinal natural history study of children and adults with glycosphingolipid and glycoprotein disorders including Tay-Sachs and Sandhoff disease, GM1 gangliosidosis, and type 1 sialidosis. In 2019 she initiated the first gene therapy trial for children with GM1 gangliosidosis.

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As director of the Pediatric Undiagnosed Diseases Program, Dr. Tifft coordinates the selection and clinical evaluation of children whose diagnoses have long eluded the medical community. Using comprehensive phenotyping and next generation sequencing, she and her team have provided diagnoses to nearly one-third of selected patients and have strong candidate genes under study for additional cases.

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