Tadbir K. Bariana
A5013068112- Platelet Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Eosinophilic Disorders and Syndromes
- Blood disorders and treatments
- Medical Imaging and Pathology Studies
- Genetics and Neurodevelopmental Disorders
- Retinal Development and Disorders
- Biomedical Text Mining and Ontologies
- Telomeres, Telomerase, and Senescence
- Cancer Genomics and Diagnostics
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Erythrocyte Function and Pathophysiology
- Cystic Fibrosis Research Advances
- Genetic factors in colorectal cancer
- Pulmonary Hypertension Research and Treatments
- Heme Oxygenase-1 and Carbon Monoxide
- RNA modifications and cancer
- Venous Thromboembolism Diagnosis and Management
- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Oral and gingival health research
- Genomic variations and chromosomal abnormalities
- Chronic Myeloid Leukemia Treatments
Royal London Hospital
2024
Barts Health NHS Trust
2020-2024
Royal Free London NHS Foundation Trust
2014-2022
University of Cambridge
2016-2020
Cambridge University Hospitals NHS Foundation Trust
2019
University College London
2014-2018
London Cancer
2014-2017
The Royal Free Hospital
2016
National Health Service
2016
Cancer Institute (WIA)
2015
A BLUEPRINT of immune cell development To determine the epigenetic mechanisms that direct blood cells to develop into many components our system, consortium examined regulation DNA and RNA transcription dissect molecular traits govern differentiation. By inducing responses, Saeed et al. document changes in genome underlie Cheng demonstrate trained monocytes are highly dependent on breakdown sugars presence oxygen, which allows produce energy needed mount an response. Chen examine transcripts...
E527K hyperactive SRC results in megakaryocytes with increased podosome formation, thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Background: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding bone morphogenetic protein receptor type 2 ( BMPR2 ) are commonest cause of PAH, whereas biallelic eukaryotic translation initiation factor alpha kinase 4 EIF2AK4 described pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine frequency these and define genotype-phenotype characteristics large cohort patients...
Background The study aimed to elucidate the prevalence of nitrous oxide (N2O) usage in patients with unexplained venous thromboembolism (VTE), highlighting potential association hyperhomocysteinaemia (HHcy). Methods We conducted a retrospective at Royal London Hospital, examining cases N2O-related VTE from March August 2023. Among 50 identified, four (8%) had recent unprovoked VTE. Patient data were collected based on N2O ambulatory emergency care pathway admissions. Results or concurrent...
Next-generation sequencing has been invaluable in the elucidation of genetic etiology many subtypes intellectual disability recent years. Here, using exome and whole-genome sequencing, we identified three de novo truncating mutations WAS protein family member 1 (WASF1) five unrelated individuals with moderate to profound autistic features seizures. WASF1, also known as WAVE1, is part WAVE complex acts a mediator between Rac-GTPase actin induce polymerization. The connected by Matchmaker...
Background - Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability PAH we integrated deep phenotyping whole-genome sequencing data using Bayesian statistics. Methods We analyzed 13,037 participants enrolled the NIHR BioResource Rare Diseases (NBR) study, which 1,148 were recruited domain. test for genetic associations between genes and selected phenotypes (PH), used...
Significance Next-generation sequencing is identifying millions of novel gene variants, presenting challenges to researchers and clinicians. Variations in the genes ITGA2B ITGB3 affect integrin αIIbβ3, leading bleeding disorder Glanzmann thrombasthenia. We analyzed missense variants on ∼32,000 alleles found affecting ∼10% amino acids each protein ∼1.3% population. Almost all are rare, indicating recent entry into Two we predicted would be deleterious profoundly affected recombinant...
Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, pathogenic mutations in result the severe skin disorder erythrokeratodermia variabilis et progressiva-4 Four of eight reported cases also had thrombocytopenia but underlying mechanism has remained unexplored. Here we expand upon phenotypic spectrum deficiency with studies two siblings...
The heterogeneous manifestations of MYH9-related disorder (MYH9-RD), characterized by macrothrombocytopenia, Döhle-like inclusion bodies in leukocytes, bleeding variable severity with, some cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging clinical practice. We collected phenotypic data analyzed genetic variants more than 3,000 with a or platelet disorder. Patients were enrolled BRIDGE-BPD ThromboGenomics Projects their samples processed...
The admission of older patients with acute medical problems to short stay units (SSMUs) is controversial in light their longer expected length in-patient (LoS), coupled the greater resources required by such a department. We undertook prospective study 120 consecutive SSMU aged 60 years or over, find out whether information gained during admissions process could predict which candidates would subsequently have successful outcome, as well assess overall suitability patients. Our redesigned...
Nitrous oxide (N2O), often known as "laughing gas," ranks a widely used recreational drug among young people in the UK, with 3.9 % of adults aged 16–24 reporting its use 2021–2022. Besides neurological risks, there is emerging evidence linking N2O misuse to serious haematological issues, including arterial and venous thrombosis. The project aimed elucidate prevalence usage (18–35 years) unprovoked thromboembolism (VTE) between January 2021 July 2023. Patient records from three East London...