Baralle, Diana - University of Southampton

个人简介

As a Professor of Genomic Medicine and Clinical Geneticist, my research spans both clinical phenotyping, diagnostics and molecular mechanisms. The clinic provides a rich resource for genetics and genomics research finding new causes for rare disorders. Improving diagnostic analyses through genomics and transcriptomics particularly working in collaboration with the 100,000 genome project is an exciting opportunity at the University of Southampton. My laboratory takes this further by studying the molecular mechanisms in pre mRNA splicing which will help us understand how genes work and therefore how we can modify them for therapy. Dr Diana Baralle was appointed a Hefce Senior Clinical Lecturer in 2011. Having graduated in medicine from the University of London, she trained first in Paediatrics and then Clinical Genetics. She completed her MD and research training fellowship in the Department of Pathology, Cambridge University working on the molecular pathology of NF1. She held an academic position in Cambridge before her current appointment in Southampton and combines her clinical work with her research interests. Dr Baralle’s leads a group that investigates the role of RNA splicing in genetic disease with particular interest in how in the mechanism of splicing is affected by gene mutations, what this teaches us about the complex mechanism and role of splicing, diagnostic testing and ultimately how this can be altered to prevent or alter disease. Complimentary to this are her other research interests which include genetic diagnostic testing, in particular RNA testing and the causes of dysmorphology syndromes. She is also clinical specialty lead for Genetics for the Wessex CLRN. Her research is based within the Faculty of Medicine Human Development and Health Academic Unit. Her group comprises both clinical and non-clinical scientists and students. She is a consultant in Clinical Genetics at University Hospital Southampton NHS Foundation Trust, and has outreach clinics to Salisbury and Winchester as well as a specialist oculogenetics clinic.

研究领域

The role of RNA processing defects in genetic disease Diagnostic testing and RNA Dysmorphology Comprehensive research network (CRN) Genetics The role of RNA processing defects in genetic disease Abnormalities of pre-mRNA splicing represent an important mechanism by which gene mutations cause disease. In addition genomic pathology data reveals that we still have much to learn about the basic mechanisms that underlie the complex and exciting pre-mRNA splicing process. We use various techniques including minigene assays to analyse the effects on splicing of sequence variations in different diseases, and exploit human pathology to investigate new modulatory elements of splicing.

近期论文

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Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action - Smith, Lindsay D., Leme De Calais, Flavia, Raponi, Michela, Mellone, Massimiliano, Buratti, Emanuele, Blaydes, Jeremy P., Baralle, Diana and , Published:2016Publication:International Journal of CancerPage Range:1-18doi:10.1002/ujc.30574PMID:27997688 Prevalence and composition of new mutations causing developmental disorder - Baralle, Diana and Temple, Karen Published:2016Publication:NaturePage Range:1-26 Mutations specific to the Rac-GEF domain of TRIO causes intellectual disability and microcephaly - Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudi, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah and Baralle, Diana Published:2016Publication:Journal of Medical GeneticsVolume:53, (11)Page Range:735-742doi:10.1136/jmedgenet-2016-103942 Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples - Fackenthal, J., Yoshimatsu, T., Zhang, B., Ruiz de Garibay, G., Colombo, M., De Vecchi, G., Ayoub, S., Lal, K., Olopade, O., Vega, A., Santamarina, M., Blanco, A., Becker, A., Walker, L., Lopez-Perolio, I., Thomassen, M., Parsons, M., Whiley, P., Blok, M., Brandao, R., Tserpelis, D., Baralle, D., Montalban, G., Gutierrez-Enriquez, S., Diez, O., Lazaro, C., Spurdle, A., Radice, P. and de la Hoya, M. Published:2016Publication:Journal of Medical GeneticsVolume:53, (8)Page Range:548-558doi:10.1136/jmedgenet-2015-103570PMID:27060066