Fowzan S. Alkuraya
A5084054094- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genetic and Kidney Cyst Diseases
- RNA regulation and disease
- RNA Research and Splicing
- Congenital heart defects research
- Connective tissue disorders research
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Hedgehog Signaling Pathway Studies
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Renal and related cancers
- Retinal Development and Disorders
- Fetal and Pediatric Neurological Disorders
- RNA and protein synthesis mechanisms
- Retinal Diseases and Treatments
- Cellular transport and secretion
- Connexins and lens biology
- Ubiquitin and proteasome pathways
- CRISPR and Genetic Engineering
- Microtubule and mitosis dynamics
- Genetic factors in colorectal cancer
King Faisal Specialist Hospital & Research Centre
2016-2025
Alfaisal University
2016-2025
Riyadh Armed Forces Hospital
2018-2024
University of Medicine and Health Sciences
2024
Center for Genomic Science
2022-2024
King Abdullah University of Science and Technology
2017-2023
Taibah University
2022
King Abdulaziz City for Science and Technology
2014-2021
University Hospital Heidelberg
2021
Heidelberg University
2021
Our knowledge of disease genes in neurological disorders is incomplete. With the aim closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families whom known had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to identification 69 recessive not previously associated with disease, which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6,...
Provision of a molecularly confirmed diagnosis in timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, fosters counseling respect to recurrence risks while assuring reproductive choices. In general clinical genetics setting, the current diagnostic rate is approximately 50%, but those who do not receive molecular after initial evaluation, that much lower. Diagnostic success these more challenging affected...
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss photoreceptor function and contributes significantly to the etiology blindness globally but especially in industrialized world. The extreme locus allelic heterogeneity these disorders poses major diagnostic challenge often impedes ability provide molecular diagnosis that can inform counseling gene-specific treatment strategies. In large cohort nearly 150 RD families, we used genomic approaches form...
Abstract A mutation in the centrosomal‐P4.1‐associated protein ( CPAP ) causes Seckel syndrome with microcephaly, which is suggested to arise from a decline neural progenitor cells NPC s) during development. However, mechanisms of s maintenance remain unclear. Here, we report an unexpected role for cilium and identify as negative regulator ciliary length independent its centrosome biogenesis. At onset disassembly, provides scaffold disassembly complex CDC ), includes Nde1, Aurora A, OFD 1,...
Embryonic lethality is a recognized phenotypic expression of individual gene mutations in model organisms. However, identifying embryonic lethal genes humans challenging, especially when the phenotype manifested at preimplantation stage. In an ongoing effort to exploit highly consanguineous nature Saudi population catalog recessively acting humans, we have identified two families with female-limited infertility phenotype. Using autozygosity mapping and whole exome sequencing, map this single...
Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy has been associated with a range complex human diseases, yet congenital disorders are rare.
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC a heterogeneous disorder currently linked to variants six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 ten individuals from seven families with autosomal recessive PFBC. The lead loss-of-function lack of protein N-terminal (Nt)-acetylation activity. We...
A Tudor domain protein mediates posttranscriptional control of gene expression and is required for eye-lens development.
The posttranslational modification sumoylation can have multiple effects on its substrate proteins. We studied a patient with isolated cleft lip and palate balanced chromosomal translocation that disrupts the SUMO1 (small ubiquitin-related modifier) gene, resulting in haploinsufficiency. In mouse, we found Sumo1 is expressed developing hypomorphic allele manifests an incompletely penetrant orofacial clefting phenotype. Products of several genes implicated are sumoylated, interacts...
<h3>Objective</h3> To investigate the utility of autozygome analysis and exome sequencing in a cohort patients with suspected or confirmed mitochondrial encephalomyopathy. <h3>Methods</h3> Autozygome was used to highlight candidate genes for direct 10 probands, all born consanguineous parents. also filter variants from four probands. <h3>Results</h3> In addition revealing mutations known genes, revealed identification two novel disease genes: <i>MFF</i> <i>FARS2</i>, encoding fission factor...