Rate My Professor Diana Baralle

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.