A5053900935- Genetic and Kidney Cyst Diseases
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Genomics and Rare Diseases
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Protist diversity and phylogeny
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Cancer-related molecular mechanisms research
- Gastrointestinal disorders and treatments
- Fetal and Pediatric Neurological Disorders
- Epigenetics and DNA Methylation
- Cardiomyopathy and Myosin Studies
- Autism Spectrum Disorder Research
- Cystic Fibrosis Research Advances
- Celiac Disease Research and Management
- Genetic factors in colorectal cancer
- Mycobacterium research and diagnosis
- Renal Diseases and Glomerulopathies
- Medical Imaging and Pathology Studies
Newcastle University
2021-2025
Clinical Research Institute
2025
University of Newcastle Australia
2025
Northumbria University
2022
Abstract Up to 80% of rare disease patients remain undiagnosed after genomic sequencing 1 , with many probably involving pathogenic variants in yet be discovered disease–gene associations. To search for such associations, we developed a variant gene burden analytical framework Mendelian diseases, and applied it protein-coding from whole-genome 34,851 cases their family members recruited the 100,000 Genomes Project 2 . A total 141 new associations were identified, including five which...
Recent advances in sequencing technologies have increasingly enabled the identification of genetic causes for human monogenic diseases. However, systematic understanding remains limited due to rarity, heterogeneity, and complex genotype-phenotype relationships these Primary ciliopathies are a diverse group rare disorders caused by variants genes associated with cilium, cellular organelle involved signaling during development cell homeostasis. These result wide spectrum clinical phenotypes...
Background: Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited nephropathy often resulting in failure. It genetically heterogeneous; along with the major genes, PKD1 and PKD2 , at least 8 others have been suggested. ALG8 pathogenic variants associated autosomal liver implicated ADPKD, while ALG9 has suggested as an ADPKD gene, but details of phenotypes penetrance are unclear. Methods: We screened >3900 families cystic kidneys and/or livers using global approaches...
In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders.
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with diseases their family members recruited the 100,000 Genomes Project (100KGP). Following
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies associated with multisystem syndromes typically affecting brain, kidney, eye, well other organ systems such liver, skeleton, auditory system, metabolism. Motile a heterogenous group of disorders defects in specialised ciliated tissues found within lung, reproductive dyskinesia, bronchiectasis, infertility rarely hydrocephalus....
Abstract Objectives/aims The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts, ranging from megacystis to Prune Belly syndrome. We aimed apply bespoke virtual genetic panel describe novel variants associated with this condition using whole genome sequencing data within Genomics England 100,000 Genomes Project. Methods screened Project rare diseases database for patients VM-related...
Abstract Introduction : Massively parallel sequencing (MPS) techniques have made a major impact on the identification of genetic basis inherited kidney diseases such as ciliopathy autosomal dominant polycystic disease (ADPKD). Great care must be taken when analysing MPS data in isolation from accurate phenotypic information, this can cause misdiagnosis. Methods Here, we describe family trio, recruited to Genomics England 100,000 Genomes Project, labelled having cystic disease, who were...
<b>Background:</b><i>CEP164</i> encodes a centrosomal protein required for assembly of primary cilia. More recently it has been suggested may also have role in formation multiple motile Pathogenic variants <i>CEP164</i> are known to cause nephronophthisis-related ciliopathies but a causative link the ciliopathy ciliary dyskinesia (PCD) not proven. <b>Aim:</b> To assess airway cilia patient with clinical history consistent PCD, and bi-allelic <i>CEP164</i>. Method: A bronchiectasis...
Abstract LncRNAs are involved in regulatory processes the human genome, including gene expression. The rs35705950 SNP, previously associated with IPF, overlaps recently annotated lncRNA AC061979.1, a 1,712 nucleotide transcript located within MUC5B promoter at chromosome 11p15.5. To document expression pattern of transcript, we processed 3.9 TBases publicly available RNA-SEQ data across 27 independent studies involving lung airway epithelial cells. Epithelial cells showed this putative...
LncRNAs are involved in regulatory processes the human genome, including gene expression. The rs35705950 SNP, previously associated with IPF, overlaps recently annotated lncRNA AC061979.1, a 1712 nucleotide transcript located within MUC5B promoter at chromosome 11p15.5. To document expression pattern of transcript, we processed 3.9 TBases publicly available RNA-SEQ data across 27 independent studies involving lung airway epithelial cells. Epithelial cells showed this putative pancRNA....