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Prof Diana Baralle

B.Sc. ,M.B.B.S, M.D., FRCP

Professor Genomic Medicine and Honorary Consultant Clinical Genetics

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Prof. Diana Baralle was appointed to a personal chair at University of Southampton Faculty of Medicine in 2016 and awarded the prestigious NIHR Research Professorship in 2017. Having graduated in medicine from the University of London, she trained in Paediatrics and Clinical Genetics. She completed her MD and research training fellowship, Cambridge University.

She leads a group that investigates the role of RNA and splicing in genetic disease, research into new methods for genetic diagnostic testing and causes of rare disease syndromes. She is the Associate Dean Research and clinical specialty lead for Genetics for Wessex CRN and a consultant in Clinical Genetics. Her group comprises both clinical and non-clinical scientists and students.

Landmark publications:

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. William L Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel , Sulaiman Alajaji, Htoo A Wai, Jay Self, Andrew GL Douglas, Alexander P Kao, Matthew Guille, Diana Baralle. Genome Medicine 2021 Feb 25;13(1):34

A novel isoform of ACE2 is expressed in human nasal and bronchial respiratory epithelia and is upregulated in response to RNA respiratory virus infection. Blume C, Jackson CL, Spalluto CM, Legebeke J, Nazlamova L, Conforti F, Perotin JM, Frank M, Butler J, Crispin M, Coles J, Thompson J, Ridley RA, Dean LSN, Loxham M, Reikine S, Azim A, Tariq K, Johnston DA, Skipp PJ, Djukanovic R, Baralle D, McCormick CJ, Davies DE, Lucas JS, Wheway G, Mennella V.

Nat Genet. 2021 Jan 11. doi: 10.1038/s41588-020-00759

Blood RNA analysis can uplift clinical diagnostic rate and resolve variants of uncertain significance. Htoo A. Wai, Jenny Lord, Matthew Lyon, Adam Gunning, Hugh Kelly, Penelope Cibin, Eleanor G. Seaby, Kerry Spiers-Fitzgerald BSc, Jed Lye BSc, Sian Ellard, N. Simon Thomas, David J. Bunyan, Andrew G. L. Douglas, Diana Baralle. Genetics in Medicine 2020.

Opposite Modulation of RAC1 by Mutations in TRIO is associated with Distinct, Domain Specific Neurodevelopmental disorders. Sónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto-Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby,Htoo Aung Wai, Alexander J.M. Dingemans, Jayne Hehir-Kwa, Marjorlaine Willems, Yline Capri, Sarju G. Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Karen, Lydie Burglen, Marion Gérard, Audrey Putoux, C4RCD Research Group, Vincent Cantagrel, Karine Siquier-Pernet,Marlene Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves,Michael Parker, Emma Clement, Sébastien Moutton,Frédéric TranMau-Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle.  AJHG 2020 Mar 5;106(3):338-355

The prevalence and architecture of dominant developmental disorders. Hurles M, DDD study et al including D. Baralle. 2017 Nature 23;542(7642):433-438

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Hunt D, Leventer R, Simons C, Taft R, Swoboda K, Gawne-Cain M, the DDD study, Magee A, Turnpenny P, Baralle D. Journal Medical Genetics 2014 Dec;51(12):806-13.

BRCA1 exon 11 a model of long exon splicing regulation. Raponi M*, Smith L*, Silipo M*, Stuani C, Buratti E, Baralle D. RNA Biology-2014 Mar 18;11(4

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