Institute of Genetics and Cancer

Shining a Light on Genetic Diagnosis for Rare Disease Day

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.

Join us for this online event (Zoom) to find out about Genetic Diagnosis.

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.

Families are referred to the service by their clinician, who sends blood samples to NHS SE Scotland Regional Genetics at the Western General Hospital site. The samples are prepared and sent for DNA sequencing at the Edinburgh Genomics facility and the resulting data is processed by the GDAC. A computational analysis pipeline developed at the MRC Human Genetics Unit is used to identify and report genetic variants that are candidates for the cause of each child’s condition. It takes 2 working days to go from raw sequencing data to reporting results to NHS SE Scotland Regional Genetics, and between 0 and 6 candidate genetic variants are reported to each family.

Clinical scientists assess the candidate genetic variants and prepare diagnostic reports for the referring clinicians. Almost 600 families to date have gone through the service, with ~35% receiving a diagnosis. This percentage will rise as new types of analysis are added to the computational analysis pipeline and as new genes are added as known causes of developmental conditions.

It is hoped to extend this service by implementing rapid testing of very sick babies and children in Intensive Care Units throughout Scotland with the aim of identifying treatable rare diseases.

Shining a Light on this vital area of research, 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. A family that has received a diagnosis through this service will share their experiences and insights.

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.


  • 18:00-18.05: Introduction - Why can rare genetic conditions be so hard to diagnose? Prof Wendy Bickmore, Director, MRC Human Genetics Unit
  • 18:05-18.20: The clinical approach to diagnosing rare disease in children: Prof David FitzPatrick, Clinical Research Programme Leader, MRC HGU & NHS Consultant in Paediatric Genetics
  • 18:20-18:30: How whole exome-trio analysis reveals rare variants: Dr Alison Meynert, Bioinformatics Analysis Core Manager, Institute of Genetics and Cancer    
  • 18:30-18:40: NHS Diagnostic testing for severe developmental disorders in ScotlandDr Morad Ansari & Dr Louise Thompson, Clinical Scientist, South East Scotland Genetic Service
  • 18:40-18:50: Personal perspective from patient representative TBC
  • 18:50-19:00: Genetic Alliance new report - what defines a Good Diagnosis: Natalie Frankish, Policy and Engagement Manager for Scotland, Genetic Alliance
  • 19:00-19:30: Q&A

Joining instructions will be emailed prior to the event.

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Feb 28 2022 -

Shining a Light on Genetic Diagnosis for Rare Disease Day

A collaboration between the MRC HGU Genomic Data Analysis Centre, NHS Clinical Genetics Service for Rare Disease Day & the Genetics Alliance UK: Monday 28 February 2022, 6-7.30pm