About
Professor Baralle is Professor of Genomic Medicine and Head of School, Human Developpment and Health in the Faculty of Medicine at the University of 天发娱乐棋牌_天发娱乐APP-官网|下载.
She is an NIHR Senior Investigator and emeritus NIHR Research Professor. She is the current Vice president of the Clinical Genetics Society.
Professor Baralle leads a group that investigates the role of RNA and splicing in genetic disease, new methods for genetic diagnostic testing, and the causes of rare disease syndromes.
She is a consultant in Clinical Genetics at University Hospital 天发娱乐棋牌_天发娱乐APP-官网|下载 NHS Foundation Trust, with both a general genetics clinic and a specialist oculogenetics clinic.
Research
Research groups
Research interests
- RNA
- Splicing
- Genomics
- Transcriptomics
- Genetics
Current research
Prof Baralle leads an internationally renowned translational research group that drives forward functional genomics to improve clinical diagnosis and understand the mechanisms of disease. She investigates novel causes for rare disorders and in particular the role of RNA, transcriptomics and splicing in disease.
Research projects
Active projects
Completed projects
Publications
External roles and responsibilities
Biography
Professor Baralle is Professor of Genomic Medicine and Head of School Human Development and Health in the Faculty of Medicine at the University of 天发娱乐棋牌_天发娱乐APP-官网|下载.
She is an NIHR Senior Investigator and a previous NIHR Research Professorship. She was a recent president of the UK Clinical Genetics Society.
Professor Baralle leads a group that investigates the role of RNA and splicing in genetic disease, new methods for genetic diagnostic testing, and the causes of rare disease syndromes.
She is a consultant in Clinical Genetics at University Hospital 天发娱乐棋牌_天发娱乐APP-官网|下载 NHS Foundation Trust, with both a general genetics clinic and a specialist oculogenetics clinic.
Prizes
- NIHR Research Professor (2016)
- NIHR Research Professor (2016)