Ghayda Mirzaa
A5090823515- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic and Kidney Cyst Diseases
- Vascular Malformations and Hemangiomas
- RNA Research and Splicing
- Fetal and Pediatric Neurological Disorders
- Cellular transport and secretion
- Congenital heart defects research
- Renal and related cancers
- Hedgehog Signaling Pathway Studies
- RNA modifications and cancer
- Microtubule and mitosis dynamics
- RNA regulation and disease
- Vascular Malformations Diagnosis and Treatment
- Connective tissue disorders research
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Cancer Genomics and Diagnostics
- PI3K/AKT/mTOR signaling in cancer
- RNA and protein synthesis mechanisms
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Nuclear Structure and Function
- Epigenetics and DNA Methylation
University of Washington
2016-2025
Seattle Children's Hospital
2015-2025
Brotman Baty Institute
2019-2024
Seattle University
2022
University of California System
2022
University of Washington Medical Center
2021
John Wiley & Sons (United States)
2020
Hudson Institute
2020
University of Minnesota
2020
University of Southern Denmark
2019
Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly focal dysplasia, are common causes intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing 10 genes in the PI3K/AKT pathway on brain tissue from 33 children who underwent surgical resection cortex for treatment Sequencing results were correlated with clinical, imaging, pathological immunohistological phenotypes. We identified mosaic...
Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations development with shared neuropathologic features. These disorders are associated significant childhood morbidity mortality.To identify the underlying molecular cause FCD, diffuse megalencephaly.Patients or (mean age, 11.7 years; range, 2-32 years) were recruited from Pediatric Hospital A. Meyer, University Hong Kong, Seattle Children's Research Institute June 2012 to 2014....
Abstract The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to rename the megalencephaly‐capillary (MCAP; alternatively malformation‐ polymicrogyria syndrome), and more recently described megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical neuroimaging anomalies. We compare features in 42 patients evaluated for characteristics MCAP MPPH global view these syndromes...
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum neurodevelopmental disorders prominent speech-related features, and epilepsy. We performed comprehensive assessment phenotypes standardized questionnaire in 92 previously unreported individuals GRIN2A-related disorders. Applying criteria American College Medical Genetics Genomics to all published variants yielded 156 additional cases pathogenic or likely resulting...
The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) syndromes are highly recognizable partly overlapping disorders of brain overgrowth (megalencephaly). Both characterized by congenital or early postnatal megalencephaly, with a high risk for progressive ventriculomegaly leading to hydrocephalus cerebellar tonsillar ectopia Chiari malformation, cortical abnormalities, specifically polymicrogyria. MCAP is further distinct...
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent next-generation sequencing (NGS). Mosaic mutations PIK3CA have been associated widest spectrum phenotypes overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes amplicon in cohort 241 samples from 181 individuals brain and/or body overgrowth. identified 60 individuals. Several other (n = 12) were separately to...
Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, subcortical band heterotopia. Our first classification heterotopia (SBH) was developed to distinguish between the two genetic causes LIS—LIS1 (PAFAH1B1) DCX. However, progress in molecular genetics has led identification 19 LIS‐associated genes, leaving existing system...
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes brain overgrowth (megalencephaly) as segmental cortical dysplasia (such hemimegalencephaly, focal and polymicrogyria). AKT3 gene have been reported in a few individuals with malformations, to date. Therefore, our understanding regarding clinical molecular spectrum associated mutations this critical is limited, no clear genotype–phenotype correlations. We sought further delineate...
Polymicrogyria is a malformation of cortical development. The aetiology polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 57 parent-offspring trios with polymicrogyria. We nine further additional patients. Shared features the patients were extensive bilateral associated severe developmental delay, postnatal microcephaly, visual impairment and intractable epilepsy. encodes GluN1, essential subunit...
Expansion of the human brain, and specifically neocortex, is among most remarkable evolutionary processes that correlates with cognitive, emotional, social abilities. Cortical expansion determined through a tightly orchestrated process neural stem cell proliferation, migration, ongoing organization, synaptogenesis, apoptosis. Perturbations each these intricate steps can lead to abnormalities brain size in humans, whether small (microcephaly) or large (megalencephaly). Abnormalities growth be...