People living with genetic conditions and cancers are at the heart of our research at the Institute of Genetics and Cancer, the University of Edinburgh. The Genomic Data Analysis Centre (GDAC), at the MRC Human Genetics Unit, supports the NHS SE Scotland Regional Genetics rare disease diagnostic service. This is a national Scottish service that sequences all the genes in a child affected by a developmental condition, and all the genes in their parents (trio whole exome sequencing), with the goal of identifying the genetic variant(s) that have caused the child’s condition.
Professor David FitzPatrick will outline the work of the Genomic Data Analysis Centre (GDAC) at the MRC Human Genetics Unit. Dr Alison Meynert will explain how whole exome-trio analysis reveal rare variants. Dr Morad Ansari and Dr Louise Thompson will describe the work of the NHS SE Scotland Regional Genetics Rare Disease Diagnostic Service. Natalie Frankish, Policy and Engagement Manager for Scotland, Genetic Alliance UK will share the Genetic Alliance UK’s new report – What Defines a Good Diagnosis, as well as stories of families who have been through their own ‘diagnostic odyssey’.
Take part in a fascinating discussion to explore the challenges of diagnosing rare genetic conditions and explore the latest developments from behind-the-scenes as the diagnostic process improves.