Rate My Professor Diana Baralle

Professor Diana Baralle is Professor of Genomic Medicine and Head of School of Human Development and Health in the Faculty of Medicine at the University of Southampton. She holds a B.Sc. in Genetics from University College, University of London (1990), MBBS from the same institution (1993), MD from the University of London (2005), and is a Fellow of the Royal College of Physicians (FRCP). She completed her doctorate and Action Medical Research Training Fellowship in the Department of Pathology at the University of Cambridge, where she held an academic position prior to her appointment at Southampton. As a Consultant in Clinical Genetics at University Hospital Southampton NHS Foundation Trust, she leads general clinical genetics clinics in Winchester and Salisbury and a specialist ophthalmological genetics multidisciplinary clinic. She also serves as programme lead for the Master’s in Genomic Medicine and Associate Dean for Research in the Faculty of Medicine.

Her research focuses on the role of genomics, RNA, and splicing in genetic disease, developing new methods for genetic diagnostic testing, and investigating causes of rare disease syndromes such as PURA syndrome and TRIO syndrome. Leading an internationally renowned translational research group, she advances functional genomics, transcriptomics, and splicing analysis to improve clinical diagnosis and understand disease mechanisms in rare disorders. Key publications include “Prevalence and architecture of de novo mutations in developmental disorders” (2017), “Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes” (2008), “Large-scale discovery of novel genetic causes of developmental disorders” (2015), “Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability” (2014), and “Splicing in the diagnosis of rare disease: advances and challenges” (2021). Awarded an NIHR Research Professorship in 2016 and holding NIHR Senior Investigator status, Professor Baralle is President of the Clinical Genetics Society, Genotype-Phenotype Association lead at Genomics England, and former Chair of the society’s treasurer committee (2014-2022). Her work has over 12,896 citations on Google Scholar.