A5028708015- Cardiomyopathy and Myosin Studies
- Cystic Fibrosis Research Advances
- Immunodeficiency and Autoimmune Disorders
- BRCA gene mutations in cancer
- Cardiovascular Effects of Exercise
- Genomics and Rare Diseases
- Cardiovascular Function and Risk Factors
- Genetic and Kidney Cyst Diseases
- Immune Cell Function and Interaction
- NF-κB Signaling Pathways
- Viral Infections and Immunology Research
- Genetic Syndromes and Imprinting
- Genetic factors in colorectal cancer
- Congenital heart defects research
- Biliary and Gastrointestinal Fistulas
- Genetics and Physical Performance
- Prenatal Screening and Diagnostics
- interferon and immune responses
- Yeasts and Rust Fungi Studies
- Cytokine Signaling Pathways and Interactions
- Global Cancer Incidence and Screening
- Prostate Cancer Treatment and Research
- Nuclear Structure and Function
- Nasal Surgery and Airway Studies
- RNA regulation and disease
Harefield Hospital
2022-2024
Guy's and St Thomas' NHS Foundation Trust
2023-2024
Royal Brompton Hospital
2021-2023
Royal Victoria Hospital
2022
University of Ulster
2022
St Bartholomew's Hospital
2019-2021
University College Dublin
2021
Barts Health NHS Trust
2020
Great Ormond Street Hospital for Children NHS Foundation Trust
2020
Art Research Centre of the Slovak Academy of Sciences
2019
Hypertrophic cardiomyopathy (HCM) is a heritable myocardial disease with age-related penetrance. Current guidelines recommend clinical screening of relatives beginning at 10 years age, but the value this approach has not been systematically evaluated. Anonymized data were collected from children referred for family between 1994 and 2017 after diagnosis HCM in first-degree relative. Of 1198 consecutive (≤18 age) 594 families who underwent serial evaluation (median, 3.5 years; interquartile...
The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator Th2 (T-helper 2) mediated allergic inflammation via the IL-4 (interleukin-4) JAK (Janus kinase)/STAT signalling pathway. We identified novel heterozygous germline mutation c.1255G > C, p.D419H leading to overactivity JAK/STAT pathway, in kindred affected by early-onset atopic dermatitis, food allergy, eosinophilic asthma, anaphylaxis follicular lymphoma. D419H expression functional activity...
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature hypertrophic cardiomyopathy (HCM). Although most evident hypertrophied or scarred segments, reduced MBF can occur apparently normal segments. We hypothesized that impaired and perfusion reserve, quantified using mapping cardiac magnetic resonance, might overt left ventricular hypertrophy (LVH) late gadolinium enhancement, mutation carriers without LVH criteria for HCM...
Abstract Primary ciliary dyskinesia (PCD), a disorder of the motile cilia, is now recognised as an underdiagnosed cause bronchiectasis. Accurate PCD diagnosis comprises clinical assessment, analysis cilia and identification biallelic variants in one 50 known PCD-related genes, including HYDIN . -related due to presence pseudogene, HYDIN2 , with 98% sequence homology This presents significant challenge for Short-Read Next Generation Sequencing (SR-NGS) analysis, many diagnostic gene panels do...
Despite new strategies, such as evaluating deep intronic variants and genes in whole-genome-sequencing studies, the diagnostic yield of genetic testing hypertrophic cardiomyopathy (HCM) is still around 50%. FHOD3 has emerged a novel disease-causing gene for this phenotype, but relevance clinical implication copy-number variations (CNVs) have not been determined. In study, CNVs were evaluated using comparative depth-of-coverage strategy by next-generation sequencing (NGS) 5493 HCM probands...
JAmp:Fs E. WiiTi-iF M
Ogataea degrootiae is an ascomycete yeast that was first isolated in the Netherlands 2017. It a member of Pichiaceae clade. Here, we present genome sequence O. UCD465, which from soil Ireland. This 14.6 Mb and haploid.
<h3>Introduction</h3> Predictive genetic testing allows the identification of at-risk first-degree relatives patients with cardiomyopathies. Data on penetrance variants associated cardiomyopathies is limited. The aim this study was to investigate disease in asymptomatic carriers familial cardiomyopathy hypertrophic (HCM), dilated (DCM) and arrhythmogenic right ventricular (ARVC). <h3>Methods</h3> We included individuals referred Royal Brompton Hospital for predictive after finding a...
<h3></h3> Most UK-based genetic counsellors (GCs) work within clinical genetics services; yet there is a small and expanding group of GCs working other specialties, termed 'mainstream' GCs. To our knowledge have been no projects to date examining the experiences mainstream in UK. The aim this workforce evaluation was explore Online surveys were sent obtain general demographic information baseline data regarding these roles. Those who completed then invited take part online focus groups. Data...
Primary Ciliary Dyskinesia (PCD) is a heterogenous disorder of motile cilia. Diagnosis comprises combination clinical investigation, analysis cilia and identification bi-allelic variants in PCD-related genes. Providing molecular confirmation diagnosis enables more effective genetic counselling. Routine testing examines the coding regions PCD genes and bi-allelic are found up to 70% patients. The remaining incomplete cases, have either no pathogenic or only single,...
<b>Objectives:</b> Cystic fibrosis (CF) & CFTR-related disorders (CFTR-RD) can be difficult to diagnose. NPD extended <i>CFTR</i> genetics improve the diagnostic yield when sweat Cl- and genotyping are inconclusive. We report outcomes of our DCFD service. <b>Methods:</b> All patients referred (2017-2022) who had were included in this retrospective study. Every patient was reviewed at a consensus meeting assign them into categories. then explored discriminatory value using Kruskal-Wallis...
Primary Ciliary Dyskinesia (PCD) is a rare disorder of the motile cilia for which diagnosis comprises combination clinical investigation, analysis and identification bi-allelic variants in one at least 50 PCD-related genes, including <i>HYDIN</i>. Analysis <i>HYDIN</i> complicated by presence pseudogene, <i>HYDIN2</i>, with 98% sequence homology to 79 86 exons This presents significant challenge short read Next Generation Sequencing (SR-NGS) analysis; consequently many diagnostic PCD panels...
Background: CMR can detect cardiac abnormalities in hypertrophic cardiomyopathy (HCM) gene mutation carriers without left ventricular hypertrophy (G + LVH-).Features include elongated anterior mitral valve leaflet, crypts, hypertrabeculation and hyperdynamic function.Microvascular dysfunction the absence of epicardial coronary artery disease is a feature HCM with impaired myocardial blood flow (MBF, ml/g/min) perfusion reserve (MPR).These be abnormal overt patients even segments normal wall...
Abstract Introduction Arrhythmogenic Cardiomyopathy (AC) is typically caused by mutations in the desmosomal genes, however non-desmosomal genes have been increasingly implicated. Desmin gene (DES) previously reported AC, but many cases there are insufficient data to support their pathogenicity. Purpose We assessed our AC cohort for DES and describe clinical phenotype associated with a recurring variant present 3 unrelated families. Methods Genetic testing was performed using next-generation...
Abstract Funding Acknowledgements Type of funding sources: None. Background Cardiomyopathy has been highlighted as one the key drivers heart failure, particularly dilated cardiomyopathy (DCM) (5,1). Finding correct diagnosis for patients is not only important to their health, but that family members (2). European guidelines recommend genetic counselling and testing all with a (3). Genetic involves communicating complex information providing support families inherited conditions. It...