Professor Raymond Dalgleish
Professor of Human Genetics
Tel: +44 (0)116 252 3425
Fax: +44 (0)116 252 3378
Email: raymond.dalgleish@le.ac.uk
Personal details
- BSc (Glasgow), PhD (London)
I studied for an undergraduate degree in Cell Biology at the University of Glasgow. However, a stint as a summer student in 1975 at the Beatson Institute for Cancer Research, Glasgow, convinced me that my real interest lay in human molecular genetics. I completed my PhD in 1980 at St Mary's Hospital Medical School, London, under the supervision of Professor Bob Williamson, cloning human globin cDNA and gene sequences.
In 1980, I was awarded a Fogarty International Fellowship to allow me to undertake my post-doctoral studies at the National Institutes of Health, Bethesda, Maryland, USA. Working in the Pulmonary Branch of the National Heart Lung and Blood Institute, I cloned and analysed cDNA and genomic sequences for human collagen types I and III.
In 1984, I was appointed to the post of Lecturer in the Department of Genetics, continuing my work on collagen genes specifically with respect to sequence variants that result in inherited connective tissue disorders. This work resulted in the setting up of databases of gene variants that give rise to osteogenesis imperfecta (OI) and to some of the Ehlers-Danlos syndromes (EDS).
The data were initially collected for just three genes but this has now expanded to more than twenty-five and there are plans to further extend the repertoire. These variant data can be view at Osteogenesis Imperfecta Variant Database and Ehlers-Danlos Syndrome Variant Database.
I am a member of the "Gene and Disease Specific Database Advisory Committee" and of the "International Scientific Advisory Committee" of the Human Variome Project.
I am a member of the Sequence Variant Description Committee of the Human Variome Project.
I am a member of the Medical and Scientific Board of the Ehlers Danlos Society.
I am a member of the core coordinating group of the Musculoskeletal GeCIP Domain for the UK 100,000 Genomes Project.
Websites
- PubMed at the US National Library of Medicine for Prof R. Dalgleish
- Leicester Research Archive: Prof R. Dalgleish
- Google Scholar: Prof R. Dalgleish
Publications
Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R (2018) VariantValidator: accurate validation, mapping and formatting of sequence variant descriptions. Human Mutation, 39: 61-68.
Parkin JD, San Antonio JD, Persikov A, Dagher H, Dalgleish R, Jensen ST, Jeunemaitre X, Savige J (2017) The collagen III fibril has a “flexi-rod” structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles. PloS One, 12: e0175582.
Dalgleish R, Bishop NJ, Pollitt R (2016) Re: What if the prenatal diagnosis of a lethal anomaly turns out to be wrong? Pediatrics, eLetter: http://pediatrics.aappublications.org/content/137/5/e20154514.
Dalgleish R (2016) LSDBs and how they have evolved. Human Mutation, 37: 532-539.
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux A-F, Smith T, Antonarakis SE, Taschner PEM (2016) HGVS recommendations for the description of sequence variants: 2016 update. Human Mutation, 37: 564-569.
Lancaster O, Beck T, Atlan D, Swertz M, Veal C, Dalgleish R, Brookes AJ. (2015) Cafe Variome: general-purpose software designed to make genotype-phenotype data easily and appropriately discoverable in restricted or open access contexts. Human Mutation; 36: 957-964.
Teaching
- I teach in the areas of human genetics and bioinformatics.
Other responsibilities
- Member of Departmental Teaching Team
- Departmental Radiation Protection Officer
- Member of Departmental Safety Team
Research
My research interests are predominantly in the the area of bioinformatics. Recent laboratory-based studies have focused on determining the genetic basis of premature ovarian insufficiency (POI) in a project involving colleagues at the Leicester Royal Infirmary and international collaborations with groups in Serbia and China.
The bioinformatics research is my major focus, and I was a partner in the European Commission 7th Framework-funded GEN2PHEN project which created database components, tools and technologies to help integrate information pertaining to genome variation and human disease phenotype. My major contribution to this project has been the development of a new DNA reference sequence format, known as Locus Reference Genomic (LRG), which will aid in the curation of variant data in locus-specific databases (LSDBs). The LRG project is a joint venture with the European Bioinformatics Institute (EBI) and the National Centre for Biotechnology Information (NCBI) and full details can be found at the LRG website.
I was a co-developer in the Café Variome project which began life as part of the GEN2PHEN project. Café Variome aims to provide a portal system for the discovery of gene variant data in a fashion that enables data to bequeried and re-purposed for storage and further analysis in other database systems. Hence, it exists as an intermediary between data providers and data curators. This builds on existing expertise with LSDBs and involves collaboration with software companies and diagnostic laboratories.
My principal current project is VariantValidator which is a software tool that facilitates accurate validation, mapping and formatting of sequence variant descriptions. It provides tools for the handling of variants reported in VCF and HGVS formats. A paper describing VariantValidator has been published in Human Mutation.
Supervision
- Search Find a PhD.com for Professor R. Dalgleish
- Departmental PhD Project page for Professor R. Dalgleish