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NHS Research Scotland (NRS) Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum Joint Event

Date: 20/05/2026 to 20/05/2026 Venue: Institute of Genetics and Cancer (IGC)

The NHS Research Scotland (NRS) Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum are hosting an in-person event, free for academic, clinical, government and third-sector colleagues at the Institute of Genetics and Cancer (IGC) in Edinburgh, Wednesday 20 May

This event is particularly aimed at members of the Scottish Clinical Genomics community, including Genetic Counsellors and Clinical Geneticists, Trainees/Residents, Nurses and Laboratory Staff and the Scottish genomic research community.

We will be showcasing patient-focussed research and development in the field of genomics in Scotland, discussing the changes in genetic testing on both Laboratory and Clinical Genetics Practice across Scotland and how we can collaborate to maintain the best service for our patients. Our speakers and delegates are from within NHS Scotland Services and will be reporting back on experience in all four Genetics Services and Laboratories and sharing new ways of working in Clinical Genetics to manage increased patient referrals.

We also expect an update from the Scottish Strategic Network for Genomic Medicine.

Registration

Venue information

Programme

09:00-09:30

Registration

 

Morning session (NHS Research Scotland)

Chairs: Dr Catherine McWilliam, Dr Jamie Campbell & David Moore

09:30-09:40

Introduction and Welcome

Dr Jonathan Berg

University of Dundee

09:40-10:10

Improving Genomic Healthcare through clinical-academic partnership and panel discussion

Professor Joris Veltman & Dr Jonathan Berg

University of Edinburgh/ University of Dundee

10:10-10:45

Keynote Presentation: The increasing complexity in the diagnoses and treatment of genetic muscle diseases

Professor Volker Straub

Newcastle University 

10:45-11:15

Coffee break & Trade

11:15-11:35

Title: TBA

Dr Michael Yates

University of Edinburgh

11:35-11:55

The genetics of rare reproductive disorders

Dr Margot Wyrwoll

University of Edinburgh

11:55-12:30

AI and improvements in variant interpretation

Professor Joe Marsh

University of Edinburgh

12.30-13.30

Lunch & Trade

 

Afternoon Session (Closed Forum)

Chair: Catriona Corsie

13:30-13:40

Introduction to Afternoon Session

Catriona Corsie

NHS Lothian

13:40-14:10

The BHF SCD/OHCA Project: A national integrated care system for Scotland.

Helena Davison

NHS GG&C

14:10-14:50

Beyond the RID Test Directory: An innovation piece

Dr Jamie Campbell

NHS Lothian

14:50-15:30

Laboratory 'Send-Away' Tests: A Scotland-wide view

Dr Hannah Massey / Dr Mark Hamilton

NHS Lothian /NHS GG&C

15:30-16:10

DNA storage policy update and discussion

Paul Westwood

NHS GG&C

16:10-16:45

Breaking News and Q&A with Forum Co-chairs

16:45-16:50

Closing remarks

Sponsors

The agenda and organisation of this event were developed independently from sponsors. Sponsors of this event are being confirmed and will be acknowledged for their financial sponsorship.

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