Neurobiology of SSADH Deficiency

Over the past three and half years, Wardiya Afshar-Saber, Ph.D. a research fellow in Neurology at Boston Children’s Hospital in the Sahin Lab has been focusing on establishing a platform for drug screening using induced pluripotent stem cells derived neurons for SSADH Deficiency. Dr. Afshar-Saber has de-stablished a robust in vitro model for excitatory and inhibitory neurons. 

Dr. Afshar-Saber also developed novel functional assays to study neuronal activity in vitro. Because of the novel assays, she received an equipment grant and Mustafa Sahin, MD, PhD. also contributed to the purchase of new state of the art – equipment which she used to further study SSADH Deficiency. 

Dr. Afshar-Saber’s very important work has been published in Neurobiology of Disease, Volume 190, in the January 2024, issue.

We are grateful to Dr. Afshar-Saber for her tenacity in staying with this project for over three years.  Her work will play a vital step in bringing a treatment to fruition. Her work has confirmed some expected changes and also uncovered some new unforeseen altered activity and hypersynchrony, as well as mitochondrial dysfunction.  It is without questions that her work to unravel the pathophysiology of SSADH Deficiency, will help lead to the development of novel therapeutic strategies.

Click the link below to read the published article: ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations from Neurobiology of Disease.