SSADH Deficiency becomes the topic for the Boston Children’s Hospital Metabolism Grand Rounds.

On Tuesday November 28th Dr. Phillip L. Pearl gave a talk, titled: Results of the SSADH Deficiency Natural History Study. This talk included a

1)     Review of the clinical, imaging, and neurophysiologic outcomes of the 5-year SSADHD natural history study.

2)     Correlate longitudinal changes of the course of the disorder with GABA activity and other biomarkers.

3)     Discussed emerging therapeutic strategies for SSADH deficiency.

Phillip L. Pearl, M.D. is Director of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital and William G. Lennox Chair and Professor of Neurology at Harvard Medical School. 

Phillip L. Pearl, MD

His major research interest is inherited metabolic epilepsies with specific focus on disorders of GABA metabolism.  Dr. Pearl is Past President of the Professors of Child Neurology and the Child Neurology Society.  He has authored over 240 peer-reviewed manuscripts and over 150 chapters and reviews, written or edited five books.

The Grand rounds are an integral component of medical education. They present clinical problems in medicine by focusing on current or interesting cases. They are also utilized for dissemination of new research information within hospitals and medical schools.

The link below is the recording of Dr. Pearl’s talk.  He also shared that the talk generated a lot of interest and he received all kinds of suggestions for more collaborations.

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