A5038402385- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Hemoglobinopathies and Related Disorders
- Biochemical and Molecular Research
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genetics, Bioinformatics, and Biomedical Research
- Folate and B Vitamins Research
- Genetic Associations and Epidemiology
- RNA regulation and disease
- interferon and immune responses
- BRCA gene mutations in cancer
- Growth Hormone and Insulin-like Growth Factors
- Birth, Development, and Health
- RNA and protein synthesis mechanisms
- Renin-Angiotensin System Studies
- Skin and Cellular Biology Research
- Connective tissue disorders research
- Oral and gingival health research
- Hereditary Neurological Disorders
King Faisal Specialist Hospital & Research Centre
2023-2025
Qassim University
2016-2023
King Abdulaziz Medical City
2016-2023
King Abdullah International Medical Research Center
2021-2023
King Saud bin Abdulaziz University for Health Sciences
2021-2022
National Guard Health Affairs
2016-2021
Riyadh Armed Forces Hospital
2020-2021
McGill University Health Centre
2013-2018
Harvard University
2012
Mass General Brigham
2012
Abstract Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome (ES), few studies are available regarding the advantages its clinical application. We analyzed 1007 consecutive index cases for whom GS was performed in a setting 2-year period. reported pathogenic and likely (P/LP) variants that explain patients’ phenotype 212 (21.1%). In 245 additional (24.3%), variant unknown significance (VUS) related to reported. especially investigated...
Inborn errors of metabolism (IEMs) are individually rare; however, they collectively common. More than 600 human diseases caused by inborn now recognized, and this number is constantly increasing as new concepts techniques become available for identifying biochemical phenotypes. The aim study was to determine the type distribution IEMs in patients presenting a tertiary care center Saudi Arabia.We conducted retrospective review children diagnosed with Pediatric Department King Abdulaziz...
PurposeWithin this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS).MethodsWe followed two approaches: (1) a patient-centered approach, which routine diagnostic analysis systematically interrogates variants genes not yet associated human diseases; and (2) gene variant centered approach. For the latter, focused on de novo that presented neurodevelopmental delay (NDD) and/or intellectual disability (ID), are...
Abstract Background Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression death if untreated. Using biotin thiamine at early stage of the can lead significant improvement. Methods BTBGD a treatable diagnosed age has been frequently reported Saudi population....
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity global developmental delays, sometimes complicated by episodes respiratory decompensation. Variants included bona fide...
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved GDD ID. Homozygous variants EMC1 are associated with GDD, scoliosis, cerebellar atrophy, indicating relevance this pathway for neurogenetic disorders. EMC10 a bone marrow-derived angiogenic growth factor that plays an important role infarct...
Abstract Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins lipids from Golgi apparatus to endoplasmic reticulum (ER). In recent years, coat have been implicated human diseases known collectively as “coatopathies”. Methods Whole exome or genome sequencing two families with a neuro-developmental syndrome, variable microcephaly cataracts revealed biallelic variants COPB1 , which encodes beta-subunit COPI (β-COP). To investigate Family 1’s...
Neurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods diagnosis and treatment these complicated, their involves combination various forms therapy. In recent years, the development high-resolution technologies has played an important role in revealing microdeletions, microduplications, single-nucleotide variants chromosomes how they linked neurodevelopmental disorders. wide implementation application...
<h3>Background</h3> Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations urine malonic acid (MA) methylmalonic (MMA). Nearly all reported cases are caused malonyl-CoA decarboxylase (MCD) deficiency. Most patients have metabolic acidosis, developmental delay, seizures cardiomyopathy. CMAMMA was also described in symptomatic with normal MCD activity, suggesting heterogeneity this disorder. <h3>Methods results</h3> We...
Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption its components encoded by GLDC, AMT GCSH are only known causes encephalopathy, also as non-ketotic hyperglycinemia (NKH). In this report, we describe a consanguineous family with one child who presented NKH, but harbored no pathogenic variants in any three genes linked to condition. Whole-exome sequencing revealed novel homozygous missense variant exon 9 SLC6A9 NM_201649.3: c.1219 A>G (p.Ser407Gly) that...
Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations Saudi Arabia high because highly consanguineous population. optimal solution estimating carrier frequency diseases screening.Identify influential alleles associated with population.We used clinical whole-exome sequencing data from in-house familial database to evaluate genetic population.King Abdullah International Medical...
Abstract Background Propionic acidemia (PA) and methylmalonic (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness administration carglumic acid with standard treatment compared alone in management these organic acidemias. Methods study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years confirmed PA MMA were included...
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They individually rare, but collectively, they common. Thirty disorders were included by Global Leukodystrophy Initiative Consortium (GLIA) as LDs. Methods: We conducted a retrospective chart review of consecutive series patients diagnosed different types LD from four large tertiary referral centers in Riyadh, Saudi Arabia. Only those...
Skeletal development throughout the embryonic and postnatal phases is a dynamic process, based on bone remodeling balance between activities of osteoclasts osteoblasts modulating skeletal homeostasis. The Notch signaling pathway regulator several developmental processes, plays crucial role in human skeleton by regulating proliferation differentiation cells. Delta Like-1 (DLL1) gene an important signaling. We propose that identified alteration DLL1 protein may affect downstream In this...
Introduction: Rare diseases (RDs) create a massive burden for governments and families because sufferers of these are required to undergo long-term treatment or rehabilitation maintain normal life. In Saudi Arabia (SA), the prevalence RDs is high as result cultural socio-economic factors. This study, however, aims shed light on genetic component in SA. Methodology: A retrospective study was conducted between September 2020 December 2021 at King Saud Medical City, tertiary hospital Ministry...
Abstract Background Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo trio plus sibship testing. Finally, studied impact of extended family analysis, mainly in complex unsolved cases. Methods Three cohorts were used analysis: one cohort assess solo, testing, another examine strategy genome vs trio-based a third test an analysis up eight members lower number candidate variants. Results The rates 39, 40,...