External Resources:

Theodore "Ted" Friedmann, A.B., M.D.

Professor of Pediatrics

Website: https://www.pediatrics.ucsd.edu/research/Friedmann_Lab/Pages/default.aspx
Email: tfriedmann@ucsd.edu

Diseases: Lesch Nyhan Disease, Alzheimer's


My long-term interest has been in the development of the concepts and tools of human gene therapy. For many years, the principal disease model used in my laboratory has been the Mendelian neurodevelopmental Lesch Nyhan Disease that is characterized by hyperuricemia, dystonia, retardation, deficiency of the neurotransmitter dopamine and compulsive and uncontrollable self injurious behavior. My group and I have characterized some of the molecular and biochemical mechanisms underlying the neuropathological features of the disorder and we have discovered that mutations of the HPRT gene responsible for the disorder regulates differentiation of stem cells into dopaminergic brain neurons. We have also reported that some of the genes that are dysregulated by HPRT deficiency are also found to be expressed incorrectly in several other neurodegenerative and neurodevelopmental diseases including Alzheimer's, Huntington's and Parkinson's diseases. Future studies will include determination of the neurodevelopmental, neurotransmitter and metabolomic defects in neurodifferentiating iPS cells from patients with LND and Alzheimer's disease.