Ghayda Mirzaa: Megalencephaly Syndromes, Megaplex & the New Paradigm for Molecular Testing for Pediatric Disorders

source: UWTV    2016年5月12日
Mutations within the PI3K-AKT-MTOR related pathway have been identified in a wide variety of developmental phenotypes including overgrowth, vascular malformations, epilepsy and autism. The broad and variable clinical spectrum and low-level mosaicism found in many of these disorders pose significant challenges to conventional molecular diagnostic approaches. In this talk, Assistant Professor Dr. Ghayda Mirzaa discusses this interesting spectrum, including most up to date clinical and molecular discoveries, and highlight future molecularly-targeted therapeutic approaches.

Ghayda Mirzaa, MD, assistant professor, Center for Integrative Brain Research, University of Washington, Genetics Division, Seattle Children’s Hospital

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