Claire Trayers
- Cancer Genomics and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Gastrointestinal disorders and treatments
- Pregnancy and preeclampsia studies
- Renal cell carcinoma treatment
- Chromatin Remodeling and Cancer
- Cancer and Skin Lesions
- Cancer Immunotherapy and Biomarkers
- COVID-19 Impact on Reproduction
- Inflammatory Bowel Disease
- Neuroblastoma Research and Treatments
- Neonatal and fetal brain pathology
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Tumors and Oncological Cases
- Genomics and Chromatin Dynamics
- Biliary and Gastrointestinal Fistulas
- COVID-19 and healthcare impacts
- Esophageal and GI Pathology
- Renal and related cancers
- Fetal and Pediatric Neurological Disorders
- Eosinophilic Esophagitis
- IL-33, ST2, and ILC Pathways
- Genetic factors in colorectal cancer
- Oral Health Pathology and Treatment
Cambridge University Hospitals NHS Foundation Trust
2019-2024
University of Cambridge
2019-2024
Addenbrooke's Hospital
2019-2024
Abstract Malignant rhabdoid tumour (MRT) is an often lethal childhood cancer that, like many paediatric tumours, thought to arise from aberrant fetal development. The embryonic root and differentiation pathways underpinning MRT are not firmly established. Here, we study the origin of by combining phylogenetic analyses single-cell mRNA studies in patient-derived organoids. Comparison somatic mutations shared between surrounding normal tissues places a lineage with neural crest-derived Schwann...
Abstract Background Whole-genome sequencing (WGS) of cancers is becoming an accepted component oncological care, and NHS England currently rolling out WGS for all children with cancer. This approach was piloted during the 100,000 genomes (100 K) project. Here we share experience East Genomic Medicine Centre (East-GMC), reporting feasibility clinical utility centralised individual locally. Methods Non-consecutive solid tumours were recruited into pilot 100 K project at our Centre. Variant...
Objective Epigenetic mechanisms, including DNA methylation (DNAm), have been proposed to play a key role in Crohn’s disease (CD) pathogenesis. However, the specific cell types and pathways affected as well their potential impact on phenotype outcome remain unknown. We set out investigate of intestinal epithelial DNAm CD Design generated 312 organoids (IEOs) from mucosal biopsies 168 patients with (n=72), UC (n=23) healthy controls (n=73). performed genome-wide molecular profiling DNAm, bulk...
Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits children with cancer and alter treatment in high-risk patient groups. It remains unknown whether offering WGS every child suspected can change management. We collected variant calls clinical diagnostic information from 281 (282 tumors) across two English units (n = 152 a hematology center, n 130 solid tumor center) where had become routine test. Our key finding was that variants uniquely attributable changed...
Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two MR imaging patterns 10 fetuses harboring L1CAM mutations: the first, observed 9 was characterized by callosal anomalies, diencephalosynapsis, a distinct brainstem malformation diencephalic–mesencephalic junction dysplasia kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, pontine hypoplasia were variably...
Abstract Background Whilst large scale paediatric whole genome sequencing (WGS) projects have been performed, these studies limited to children with high-risk disease, non-consecutive patients, and/or assessing potential benefits, rather than determining the actual impact on patient care. In England, where suspected cancer universal access WGS, we set out assess real-world of WGS consecutive, unselected patients. Methods To this, collected reports, clinical and diagnostic information from...
Abstract Background Accurate oncological diagnoses are essential to provide personalized and optimum care for patients. In children, renal tumors account approximately one in 20 malignancies. Diagnostic workup pediatric is current focused on epidemiology, radiology, histology, with a very limited role molecular analysis outside of suspected cancer predisposition. Methods Retrospective clinical record review seven young adult tumor patients presenting single principal treatment center the...
Abstract Traumatic anserine folliculosis (TAF) is an infrequently reported condition, presenting with grouped follicular papules, usually on the face of young people, induced by repeated frictional trauma or pressure. A suggestive history may allow clinical differentiation TAF from other folliculocentric keratotic disorders. We present three children diagnosed in our department: (i) 12-year-old boy asymmetry mental protuberance, presented a 1-year scaly, lichenified erythema monomorphic...