A5047793580- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- Genetics, Bioinformatics, and Biomedical Research
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Colorectal Cancer Screening and Detection
- Forensic and Genetic Research
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Neonatal Respiratory Health Research
- Hedgehog Signaling Pathway Studies
- Diet and metabolism studies
- Genetic Associations and Epidemiology
- Telomeres, Telomerase, and Senescence
- Biomedical Research and Pathophysiology
- Melanoma and MAPK Pathways
- Urological Disorders and Treatments
- Biochemical and Molecular Research
- Congenital Diaphragmatic Hernia Studies
- Cancer-related molecular mechanisms research
- Cancer Mechanisms and Therapy
Ministry of Health
2014-2025
Kuwait Institute for Medical Specialization
2010-2022
Al-Sabah Hospital
2009-2016
Newborn screening for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in Kuwait was initiated October 2014. Over a 7-year period (January 2015 to December 2021), 43 newborns were diagnosed with VLCAD out of 356,819 screened, corresponding an incidence 1:8290 and 1:5405 among only Kuwaiti newborns. This study represents the first comprehensive review newborn Kuwait. The process begins detection elevated blood C14:1 levels dried spots, followed by confirmatory testing using spots...
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays appropriate management. The aim of this study was determine the underlying basis patients presenting with features dyskeratosis who were negative for mutations classical genes. By whole exome targeted sequencing, we identified biallelic variants genes that are not associated 17 individuals from 12 families. Specifically, these homozygous USB1...
BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history cultural practices characterizing these regions, often involving consanguinity inbreeding, plausibly led to accumulation of population-specific founder pathogenic sequence variants (PSVs). To determine recurring BRCA PSVs locales, a search PUBMED, EMBASE, BIC, CIMBA was carried out combined with outreach researchers from relevant countries for unpublished data....
The remarkable progress in characterizing the human genome sequence, exemplified by Human Genome Project and HapMap Consortium, has led to perception that knowledge tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this inaccurate at best, worst, an impediment further efforts characterize variation genome. Because genotype environment fundamental basis understand phenotypic variability heritability...
Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16–40% familial BC, while other high, moderate low up 20% more families. The Lebanese reported prevalence deleterious mutations (5.6% 12.5%) were lower than those the literature. In presented study, 45 patients with a family history tested using Whole Exome Sequencing (WES) technique followed by Sanger sequencing validation. Nineteen pathogenic identified this...
Developing countries have significantly contributed to the elucidation of genetic basis both common and rare disorders, providing an invaluable resource cases due large family sizes, consanguinity, potential founder effects. Moreover, recognized depth genomic variation in indigenous African populations, reflecting ancient origins humanity on continent, effect selection pressures genome, will be valuable understanding range pathological nonpathological variations. The involvement these...
Gender-related differences in colorectal cancer (CRC) are not fully understood. Recent studies have shown that CRC arising females significantly associated with CpG island methylator phenotype (CIMP-high). Using array comparative genomic hybridization, we analyzed a cohort of 116 CRCs (57 males, 59 females) for chromosomal copy number aberrations (CNA) and found had higher numbers gains involving chromosome arms 1q21.2-q21.3, 4q13.2, 6p21.1 16p11.2 losses arm 11q25 compared to males....
Colorectal cancer (CRC) is one of the leading causes mortality. Metastasis remains primary cause CRC death. Predicting possibility metastatic relapse in early-stage paramount importance to target therapy for patients who really need it and spare those with low-potential metastasis. Ninety-six stage II cases were stratified using high-resolution array comparative genomic hybridization (aCGH) data based on a predictive survival algorithm supervised clustering. All genes included within...
Abstract The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. two main pillars of this are gene/disease-specific databases a network Country Nodes. latter nationwide efforts document the genomic variation reported within specific population. development successful operation Nodes utmost importance success Project's aims goals because they not only allow burden disease...
In this study, we examined the association between RKIP expression and molecular subtypes of breast cancer. Microarray gene data 2,333 human cancer from 26 different cohorts performed on Affymetrix U133A or U133Plus2 platforms were downloaded Array Express Gene Expression Omnibus subtype for samples was determined by single sample Set Enrichment Analysis. Differences in recurrence-free survival (RFS) tested using Log-rank test univariate analysis displayed Kaplan-Meier curves. Cox...
Array-based comparative genomic hybridization (aCGH) emerged as a powerful technology for studying copy number variations at higher resolution in many cancers including colorectal cancer. However, the lack of standardized systematic protocols bioinformatic algorithms to obtain and analyze data resulted significant variation reported aberration (CNA) data. Here, we present aCGH obtained using highly stringent functionally relevant statistical from 116 well-defined microsatellites instable...
Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder with variable clinical manifestations, including chronic rhinosinusitis, otitis media, bronchitis, pneumonia, bronchiectasis, situs inversus totalis, reduced fertility in female patients and male infertility. The condition occurs as result of abnormal structure function. It presented early life an estimated incidence approximately 1/16,000–20,000. About 50% the affected have totalis leading to Kartagener...
We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms the syndrome apparently chromosomes, died at age three months. His sister was less severely affected and lived for six years. genetic basis is discussed homozygosity autosomal recessive allelle suggested as underlying cause in some cases.
An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. Her clinical features included unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck. In addition, she had cardiac defect, previously undescribed brain anomaly, seizures, hypotonia developmental delay. Chromosomal analysis of peripheral lymphocytes FISH study revealed normal 46, XX karyotype. To date,...
Lynch syndrome (LS), the most common inherited form of colorectal cancer (CRC), is responsible for 3% all cases CRC. LS caused by a mismatch repair gene defect and characterized high risk CRC, endometrial several other cancers. Identification utmost importance because colonoscopic surveillance substantially improves patient's prognosis. Recently, network physicians in Middle Eastern North African (ME/NA) countries was established to improve identification management families. The aim present...