Tawfeg Ben‐Omran
A5102961782- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genetic and Kidney Cyst Diseases
- Cancer-related gene regulation
- Congenital heart defects research
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Nutrition, Genetics, and Disease
- Fetal and Pediatric Neurological Disorders
- Aortic aneurysm repair treatments
- Hip disorders and treatments
- Diet and metabolism studies
- Peroxisome Proliferator-Activated Receptors
- Chromatin Remodeling and Cancer
- Hedgehog Signaling Pathway Studies
- Neonatal Respiratory Health Research
- Muscle Physiology and Disorders
- RNA regulation and disease
Hamad Medical Corporation
2016-2025
Weill Cornell Medical College in Qatar
2008-2024
Research Network (United States)
2023
University Children's Hospital Zurich
2016
Pediatrics and Genetics
2013
Cornell University
2010
The translation of "next-generation" sequencing directly to the clinic is still being assessed but has potential for genetic diseases reduce costs, advance accuracy, and point unsuspected yet treatable conditions. To study its capability in clinic, we performed whole-exome 118 probands with a diagnosis pediatric-onset neurodevelopmental disease which most known causes had been excluded. Twenty-two genes not previously identified as disease-causing were this (19% cohort), further establishing...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1) identified pathogenic 45 (71%) patients. found high proportion ARID1B (68%). All four ARID1A appeared to be mosaic. By using all from Exome Variant Server as test data, we were able...
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome as molecular autopsy tool in cohort 44 families with at least one or lethal fetal malformation any stage utero development. Where no DNA was available from the fetus, performed by proxy, i.e., through parental testing.ResultsPathogenic pathogenic variants were...
Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source homozygous variants, has been successfully utilized for high throughput identification novel autosomal recessive disease genes. Here, we highlight utility autozygome confirmation previously published tentative to diseases.Autozygome exome analysis patients with suspected phenotypes. All were classified according American College Medical Genetics Genomics...
Whole exome sequencing ( WES ) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied as a molecular diagnostic tool to identify disease‐causing genes in consanguineous families Qatar. Seventeen with disorders were recruited. Initial mutation screening known related clinical diagnoses did not reveal causative mutations. Using approach, we identified definitive four families: (i) novel nonsense homozygous (c. 1034C >G) PHKG2 causing...
Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole sequencing (WGS) was analyzed in large consanguineous family which members displayed autosomal recessively inherited cerebellar ataxia manifesting before 2 years age.WGS from blood-derived genomic DNA used homozygosity mapping rare variant search. RNA isolated blood leukocytes quantitative polymerase chain reaction (PCR), sequencing, comparison transcriptomes...
Polymicrogyria is the most commonly diagnosed cortical malformation and associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, cognitive deficits. frequently co-occurs other brain malformations or as part of syndromic diseases. Past studies polymicrogyria have defined heterogeneous genetic nongenetic causes but explained only a small fraction cases.
MICU1 encodes a Ca2+ sensing, regulatory subunit of the mitochondrial uniporter, selective calcium channel within organelle's inner membrane. entry into mitochondria helps to buffer cytosolic transients and also activates ATP production organelle. Mutations in have previously been reported 17 children from nine families with muscle weakness, fatigue, normal lactate, persistently elevated creatine kinase, as well variable features that include progressive extrapyramidal signs, learning...
Abstract Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in fibroblast growth factor receptor 3 ( FGFR3) . The management achondroplasia multifaceted, requiring involvement multiple specialties across life course. There are significant unmet needs associated with and substantial differences different countries regard to delivery care. To address these challenges European Forum (EAF), network senior clinicians orthopaedic surgeons from...
Abstract Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen smaller in infants with achondroplasia, compared the general population, both restricted growth first 2 years premature closure skull plate synchondroses can contribute to narrowing. Narrowing lead compression brainstem spinal cord, result sleep apnoea sudden death. There lack clarity literature on timing regular monitoring for stenosis, which assessments should be...
The SATB2-associated syndrome (SAS) was recently proposed as a clinically recognizable that results from deleterious alterations of the SATB2 gene in humans. Although interstitial deletions at 2q33 encompassing SATB2, either alone or contiguously with other genes, have been reported before, there is limited literature regarding intragenic mutations this and resulting phenotype. We describe five patients whom whole exome sequencing identified unique de novo (one splice site, one frameshift,...
Abstract Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes known cause recessive, early-onset severe multi-organ diseases. VARS encodes the only valine cytoplasmic-localized aminoacyl-tRNA synthetase. Here, we report seven patients from five unrelated families with different missense variants . Subjects present a range of global developmental delay, epileptic...
Background: Hyperammonemia is a life-threatening event that can occur at any age. If treated, the early symptoms in all age groups could be reversible. untreated, hyperammonemia toxic and cause irreversible brain damage to developing brain. Objective: There are major challenges worsen outcome of hyperammonemic individuals Middle East. These include: lack awareness among emergency department physicians about proper management hyperammonemia, strained communication between primary, secondary,...
Abstract Background Achondroplasia is one of the most prevalent forms skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team required, particularly during first 2 years. In 2021, international consensus recommendations and guiding principles were published two groups. Methods We undertook exploratory surveys to investigate awareness for management children with achondroplasia among healthcare professionals (HCPs) parents. also assessed how well clinical practice...