Julia Baptista

Principal Clinical Scientist
Exeter Genomics Laboratory
Julia is a principal clinical scientist in the Exeter Genomics Laboratory where she delivers a diagnostic service for patients with rare genetic diseases through the rapid exome service. Her research interests are on the role of genomic variants in human disease, novel gene identification and on the use of functional assays to unravel the impact of variants in normal human development. A keen educator, she is involved in providing genomic education aimed at healthcare professionals through a number of projects including teaching in international courses at the European School of Genomic Medicine and in the MSc in Genomic Medicine at the University of Exeter Medical School.

Sessions

November 7 2019, 13:50
 - 14:20
Singletons, Duos And Trios: The Flexibility Of Exome Sequencing For Diagnosing Rare Paediatric Disorders