I am a geneticist and researcher with board certifications in pediatrics, medical genetics, and molecular genetics. The goal of my research is to investigate the genetic basis of human developmental brain disorders, including brain growth abnormalities (microcephaly, megalencephaly), malformations of cortical development, autism and epilepsy. 
My work has led to gene discovery for several disorders associated with brain malformations and epilepsy including the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome caused by mutations in PIK3R2, AKT3 and CCND2, the megalencephaly-capillary malformation (MCAP) syndrome caused by mutations in PIK3CA, the microcephaly-capillary malformation syndrome caused by mutations in STAMBP, among many other neurodevelopmental disorders caused by mutations in CDC42, ARX, CDKL5, among others (Mirzaa et al., Neuropediatrics 2004; Mirzaa et al., AJMG 2012; McDonell et al., Nature Genetics 2013; Mirzaa et al., Pediatric Neurology 2013; Mirzaa et al., Human Genetics 2014). My work on the PI3K-AKT-MTOR related disorders has led to the identification of several genes within this pathway that cause brain growth dysregulation and focal cortical dysplasia, with important therapeutic implications using pathway inhibitors (Rivière et al., Nature Genetics 2012; Mirzaa et al., Nature Genetics 2014; Jansen et al., Brain 2015; Mirzaa et al., Lancet Neurology, 2015; Mirzaa et al., JAMA Neurology, 2016). My research is focused on identifying the molecular and cellular abnormalities of developmental brain disorders in affected human neurological tissues, including induced Pluripotent Stem Cells (iPSCs) and cerebral organoids, with a special emphasis on the detection of low frequency genetic variation and studies of mechanisms using high throughput genomic, transcriptomic, and proteomic methods in human neuronal models to facilitate molecularly guided therapeutic trials.
