Ennis, Sarah - University of Southampton

个人简介

Professor Ennis was appointed Senior Lecturer in the School of Medicine in 2010. A graduate of the National University of Ireland, Galway, she joined the Genetic Epidemiology Group at University of Southampton in 1998. She investigated the genetic epidemiology of the fragile X region and completed her PhD in 2003 under the supervision of Professors Pat Jacobs, Newton Morton and Andrew Collins. Professor Ennis now leads the Genomic Informatics Group and works closely with Prof. Andy Collins in Genetic Epidemiology. Her group specialises in the analysis of next generation sequencing data with numerous projects studying detailed genomic sequence with reference to human disease causality. Her work benefits from strong collaborative links with clinical staff at Southampton University Hospital Trust. She is based in the Duthie building on the hospital site and attracts postgraduate and postdoctoral staff with strengths in human biology, programming and statistics. Individuals interested in joining her group should contact Dr. Ennis directly. Professor Ennis holds an honorary NHS contract and is a fellow of the Higher Education Academy.

研究领域

Genomic Analysis Advances in sequencing technology have the potential to effect a step change in our approach to medical genetic research and clinical diagnostics. Processing and interpretation of large scale genomic data from patient samples has the potential to reveal common and rare genetic changes that predispose to disease. The development of new tools and skills necessary to analyse, interrogate and understand the importance of genomic variation is an essential prerequisite. The vast nature of the data necessitate analytical pipelines, variant annotation and variant prioritisation in order to extricate biologically relevant variation from background noise. Sequence data can also be directed towards more generic biological questions pertaining to; understanding chiasma hotspots in recombination; inheritance patterns in families; extended regions of homozygosity and; factors acting in cis to modify chromosome stability. Paediatric Inflammatory Bowel Disease In 2010, Professor Ennis initiated local research into the genetics of paediatric inflammatory bowel disease (IBD). Patient and family recruitment is ongoing in collaboration with colleagues from Southampton University Hospital Trust and the NIHR Nutrition Biomedical Research Unit. This locally collected cohort of patients contributes to the UK & Ireland Paediatric IBD Genetics Group, as part of the UKIBDGC and is part of our current next generation sequencing work. Very detailed family history and clinical detail are collected for all participants. The cohort represents an increasingly important resource with over half of the children already having undergone complete exome sequencing. A PhD studentship part funded by the Gerald Kerkut Charitable Trust and the Crohn’s in Children Research Association (CICRA) supports this work. This work with IBD has led to a natural collaboration with Dr Tony Williams, director of the Wessex Integrated Sciences Hub Laboratory whereby research interests are aligned in bridging the information gap between autoimmunity and genomics in early onset IBD. Dr Ennis supervises a recent clinical fellowship award by CICRA to fund ongoing research merging these two disciplines. Similar parallel projects investigating translational immunology in the context of next generation sequencing in Primary Immunodeficiency are also in place. Ophthalmic Genetics A local collaboration with the Vision Laboratory, part of the Clinical Neurosciences Research Division and Southampton Eye Unit, has produced patents in medical diagnostics and research papers published in leading international journals such as The Lancet and Nature Genetics. This work has involved international collaboration with the University of Iowa, The Netherlands Institute for Neuroscience and deCODE genetics Inc. Specifically research into the genetics of age related macular degeneration (AMD) and primary open angle glaucoma (POAG) using targeted investigation as well as whole genome association and copy number variant analyses have produced numerous scientific papers. More recently, we have begun applying next generation sequence technology to samples from patients with Cone Dystrophy and Nystagmus to ascertain causal mutation not found by conventional diagnostics. Genetics of Cancer Professor Ennis supervises a CRUK funded postdoctoral position in the Genomic Informatics Group to support research into genetic variation in cancer. Ongoing collaborations with local researchers to: examine genomic data from germline and tumour DNA samples from patients with chronic lymphocytic leukemia and Splenic Marginal Zone Lymphoma; understand the pathogenesis and clonal evolution of multiple myeloma through analysis of genome sequence data; Assess exome data from long and short term survivors of pancreatic cancer; Investigating rare cancers such as Pseudomixoma Peritonei in collaboration with surgical colleagues - Mr Alex Mirnezami, local pathologists – Dr Norman Carr and the Hampshire Hospitals Foundation Trust. Professor Ennis co-supervises a PhD studentship investigating methods to detect novel chromosomal fusion events that lead to cancer. She collaborates with clinical geneticists expert in the process of splicing to identify protein isoforms that are alternatively expressed in breast cancers. Familial Nephropathy Professor Ennis co-supervises an MD/PhD to identify the nature and prevalence of familial nephropathy with Dr. Venkat-Raman from the Wessex Renal Transplant Centre at Queen Alexandra Hospital Portsmouth. This project also aims to achieve precise genetic diagnoses in cases of uncertain aetiology. She also collaborates with consultant nephrologists at Southampton to investigate the inheritance of disease causing mutations in specific cases of congenital and childhood onset kidney disease.

近期论文

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De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease - Takahashi, Shinichi, Andreoletti, Gaia, Chen, Rui, Munehira, Yoichi, Batra, Akshay, Afzal, Nadeem A., Beattie, R Mark, Bernstein, Jonathan A., Ennis, Sarah and Snyder, Michael Published:2016Publication:Genome MedicinePage Range:1-11doi:10.1186/s13073-016-0394-9 AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis - Andreoletti, Gaia, Seaby, Eleanor G., Dewing, Jennifer M., O'kelly, Ita, Lachlan, Katherine, Gilbert, Rodney D. and Ennis, Sarah Published:2016Publication:Journal of Medical GeneticsPage Range:1-10doi:10.1136/jmedgenet-2016-104100PMID:27811305 Genes implicated in thiopurine-induced toxicity: comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort - Coelho, Tracy, Andreoletti, Gaia, Ashton, James, Batra, Akshay, Afzal, Nadeem, Gao, Yifang, Williams, Anthony, Beattie, Robert and Ennis, Sarah Published:2016Publication:Scientific ReportsVolume:6Page Range:34658 Precision molecular diagnosis defines specific therapy in combined immunodeficiency with megaloblastic anaemia secondary to MTHFD1 deficiency - Ramakrishnan, Kesava, Pengelly, Reuben, Gao, Yifang, Morgan, Mary, Patel, Sanjay, Davies, Graham, Ennis , Sarah, Faust, Saul and Williams, Tony Published:2016Publication:Journal of Allergy and Clinical Immunology: in PracticeVolume:4, (6)Page Range:1160-1166.e10doi:10.1016/j.jaip.2016.07.014PMID:27707659