Ramin Badii
A5089828411- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Hearing, Cochlea, Tinnitus, Genetics
- Hemoglobinopathies and Related Disorders
- Vestibular and auditory disorders
- Connexins and lens biology
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- BRCA gene mutations in cancer
- Folate and B Vitamins Research
- Nutrition, Genetics, and Disease
- Adipose Tissue and Metabolism
- Epigenetics and DNA Methylation
- Liver Disease Diagnosis and Treatment
- Iron Metabolism and Disorders
- Ear Surgery and Otitis Media
- Genetic Mapping and Diversity in Plants and Animals
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Cancer-related gene regulation
- Forensic Anthropology and Bioarchaeology Studies
- Genetics, Bioinformatics, and Biomedical Research
- Cancer-related molecular mechanisms research
- Prenatal Screening and Diagnostics
Hamad Medical Corporation
2013-2024
Weill Cornell Medical College in Qatar
2015-2022
Qatar Airways (Qatar)
2015
Laboratory of Molecular Genetics
2011-2015
IRCCS Materno Infantile Burlo Garofolo
2010-2014
Heidelberg University
2006
Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in human genome variation databases. Here we describe insights from Phase 1 of Qatar Genome Program with whole sequenced 6047 individuals Qatar. We identified more than 88 variants which 24 are novel 23 singletons. Consistent high consanguinity founder effects region, found that several rare deleterious were common Qatari...
An open question in the history of human migration is identity earliest Eurasian populations that have left contemporary descendants. The Arabian Peninsula was initial site out-of-Africa migrations occurred between 125,000 and 60,000 yr ago, leading to hypothesis first were established on indigenous Arabs are direct descendants these ancient peoples. To assess this hypothesis, we sequenced entire genomes 104 unrelated natives at high coverage, including 56 Arab ancestry. defined a cluster...
Reaching the full potential of precision medicine depends on quality personalized genome interpretation. In order to facilitate in regions Middle East and North Africa (MENA), a population-specific for indigenous Arab population Qatar (QTRG) was constructed by incorporating allele frequency data from sequencing 1,161 Qataris, representing 0.4% population. A total 20.9 million single nucleotide polymorphisms (SNPs) 3.1 indels were observed Qatar, including an average 1.79% novel variants per...
Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation Mendelian disease burden at world population level, complementing small-scale familial studies. Here, we interrogate 6045 whole genomes Qatar-a Middle Eastern with high consanguinity and understudied mutational burden-enrolled national Biobank phenotyped 58 clinically-relevant quantitative traits. We examine curated set 2648 genes 20 panels, annotating known novel...
Abstract Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report genome-wide association study with 45 clinically relevant traits from the population of Qatar using whole genome sequencing approach discovery set 6218 individuals and replication 7768 subjects. Trait heritability more similar Qatari European populations ( r = 0.81) than Africans 0.44). identify 281 distinct...
Abstract Clinical implementation of pharmacogenomics will help in personalizing drug prescriptions and alleviate the personal financial burden due to inefficacy adverse reactions drugs. However, such is lagging many parts world, including Middle East, mainly lack data on distribution actionable pharmacogenomic variation these ethnicities. We analyzed 6,045 whole genomes from Qatari population for allele frequencies 2,629 variants 1,026 genes known affect 559 drugs or classes also performed a...
Abstract Arabic populations are underrepresented in large genome projects; therefore, the frequency of clinically actionable variants among Arabs is largely unknown. Here, we investigated genetic variation 14,392 whole genomes from Qatar Genome Program (QGP) across list 78 genes (v3.1) determined by American College Medical Genetics and Genomics (ACMG). Variants were categorized into one following groups: (1) Pathogenic (P), (2) Likely pathogenic (LP), (3) Rare uncertain significance with...
Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play major role worldwide in causing deafness, but there high degree genetic heterogeneity many genes involved deafness have not yet been identified. Therefore, remains need to search new causative mutations. In this study, combined strategy using both linkage analysis sequencing identified hearing loss....
Arab populations are largely understudied, notably their genetic structure and history. Here we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive diversity as well ancestries representing the main founding genealogical lineages Qahtanite (Peninsular Arabs) Adnanite (General Arabs West Eurasian Arabs). We find that Peninsular closest relatives ancient hunter-gatherers Neolithic farmers Levant, founder experienced multiple splitting events 12-20 kya,...
Exome sequencing of families related individuals has been highly successful in identifying genetic polymorphisms responsible for Mendelian disorders. Here, we demonstrate the value reverse approach, where use exome a sample unrelated to analyze allele frequencies known causal mutations diseases. We sequenced exomes 100 representing three major subgroups Qatari population (Q1 Bedouin, Q2 Persian-South Asian, Q3 African) and identified 37 variants 33 genes with effects on 36 clinically...
The prevalence of type 2 diabetes (T2D) is increasing in the Middle East. However, genetic risk factors for T2D Eastern populations are not known, as majority studies Europeans and Asians.All subjects were ≥3 generation Qataris. Cases with (n = 1,124) controls 590) randomly recruited assigned to 3 known Qatari subpopulations [Bedouin (Q1), Persian/South Asian (Q2) African (Q3)]. Subjects underwent genotyping 37 single nucleotide polymorphisms (SNPs) 29 genes be associated and/or populations,...
In a clinical setting, DNA sequencing can uncover findings unrelated to the purpose of genetic evaluation. The American College Medical Genetics and Genomics (ACMG) recommends evaluation reporting 59 genes from clinic genomic sequencing. While prevalence secondary is available large population studies, these data lack Arab other Middle Eastern populations. Qatar Genome Program (QGP) generates whole-genome (WGS) combines it with phenotypic information create comprehensive database for...
Alcohol dehydrogenase 1B (ADH1B) is a primate-specific enzyme which, uniquely among the ADH class 1 family, highly expressed both in adipose tissue and liver. Its expression reduced obesity increased by insulin stimulation. Interference with ADH1B has also been reported to impair adipocyte function. To better understand role of adipocytes, we used CRISPR/Cas9 delete human stem cells (ASC). Cells lacking failed differentiate into mature adipocytes manifested minimal triglyceride accumulation...
We report the results of a study carried out to delineate genetic and epidemiological aspects homocystinuria in Qatari population. Sixty-four patients with (37 males, 27 females, age 1 29 years) from 31 nuclear families were ascertained over period more than four years. The incidence Qatar was calculated be > or =1:3000, highest world known so far. All whom data available vitamin B6-nonresponsive. Molecular studies performed all patients. 53 tribe M three K homozygous for mutation c.1006C>T...
Objective: The aim of this study is to evaluate the fraction putatively deleterious variants within genomic runs homozygosity (ROH) regions in an inbred and selected cohort Qatari individuals. Methods: High-density SNP array analysis was performed 36 individuals, for 14 them whole-exome sequencing (WES) also carried out. Results: In all characterized by a high (hotspot) or low (coldspot) degree analysed individuals were mapped, most frequent hotspot selected. WES data exploited identify...
Objective: This study reports results from the first survey of genetic causes nonsyndromic sensorineural hearing loss (NSHHL) in Qatari population. Design and Study samples: Data were collected 126 patients (58 males 68 females) belonging to inbred families (56%), showing an autosomal recessive pattern inheritance (96%). Fifty-three less than 10 years old, 55 age range 20 years, while 18 aged between 30 years. All subjects had moderate severe screened for GJB2 mutations, GJB6 deletion,...
Abstract Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs typically population-private. The goal was to develop “QChip1,” an inexpensive genotyping microarray comprehensively screen newborns, couples, and patients SGD in Qatar, a small nation on the Arabian Peninsula with high degree of consanguinity. Over 10 8 8445 Qatari were identified inclusion array containing 165,695 probes 83,542 known potentially...
Mutations in the GJB2 gene, which encodes gap junction protein connexin 26 (Cx26), are primary cause of hereditary prelingual hearing impairment.Here, p.Cys169Tyr missense mutation Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified causative severe loss two Qatari families.We have analyzed effect this using combination confocal immunofluorescence microscopy and molecular dynamics simulations.At cellular level, our results show that mutant fails to form junctional...
Natural human knockouts of genes associated with desirable outcomes, such as PCSK9 low levels LDL-cholesterol, can lead to the discovery new drug targets and treatments. Rare loss-of-function variants are more likely be found in homozygous state consanguineous populations, deep molecular phenotyping blood samples from carriers help discriminate between silent functional variants. Here, we combined whole-genome sequencing proteomics metabolomics for 2,935 individuals Qatar Biobank (QBB)...