Research Areas
- Ageing
- Anaesthesia, Perioperative Medicine, and Critical Care
- Cancer
- Cardiovascular
- COVID-19
- Dermatology
- Diabetes
- Ear, Nose and Throat
- Gastroenterology
- Genetics
- Haematology
- Hepatology
- Infectious Diseases
- Mental Health
- Metabolic and Endocrine
- Musculoskeletal Health
- Neuroprogressive and Dementia
- Ophthalmology
- Oral and Dental
- Paediatrics
- Pain
- Primary Care
- Regenerative Medicine
- Renal
- Reproductive Health and Childbirth
- Respiratory
- Stroke
- Transplant
- Trauma and Emergencies
Genetics
Our role is to support the delivery of high quality clinical research in Genetics and manage participant recruitment to time and target, both for Genetics studies which are led from Scotland, and studies led from other nations which Scottish sites are participating in. We provide support in the following areas:
- Managing the study portfolio record
- Monitoring the attainment of recruitment targets
- Providing advice on study design and feasibility
- Troubleshooting issues with poor recruitment
- Identifying potential sites for studies
- Facilitating access to resource to support research, for example through Clinical Research Facility (CRF) Research Nurses.
At the moment we support more than 30 Genetics studies, about a third of which are led from Scotland.
Genetic Studies
The Genetics Specialty supports the delivery and promotion of clinical research studies in a wide range of areas, including:
- Rare diseases
- Causes and prevention of birth defects
- Common disorders such as familial cancer, and
- Genetic approaches to their treatment and prevention.
There are more than 7000 rare genetic disorders which collectively affect 1 person in 17. When viewed as a group, rare diseases are very common. The national approach made possible by the NIHR Clinical Research Network Portfolio, and supported by the Scottish Genetics Specialty Group means we are able to collect together enough people with a particular condition to make a research project feasible. This leads to more opportunities for people with rare genetic diseases to participate in research, which in turn leads to improved care and the development of new treatments.
NRS Genetics and Scottish Clinical Genetics Forum Event- 27th May 2022.
After several postponements due the COVID-19 pandemic, NRS Genetics and the Scottish Clinical Genetics Forum were pleased to welcome almost 50 attendees to the Malmaison, Dundee on Friday 27th May 2022 for our first in person meeting since 2019. We had excellent representation from consultant clinical geneticists, genetic counsellors, trainees and students.
Please see presentations from the following sessions:
- Spinal Muscular Atrophy: therapies and the future by Professor Simon Parson
- Non-invasive prenatal testing as part of antenatal screening in Scotland by Dr David Baty
- Up and coming therapies for genetic conditions by Dr Rebecca Poole
Previous events
- Huntington’s Disease & other Neurodegenerative Disorders in Scotland: New Research Summits to Climb (28 March 2019) - read the review
NIHR Musketeers Memorandum
The Musketeers Memorandum allows a single lead UK genetics unit to rapidly enable set-up for a rare disease non-CTIMP (Clinical Trial of an Investigational Medicinal Product) project, which can then be delivered across all regional genetics centres.
For further information please contact musketeers@nihr.ac.uk or visit NIHR Genomics and Rare Diseases.
Information for patients, carers and the public
NHS Research Scotland is committed to actively involving patients, those who care for them and the public in all aspects of the research process, including shaping future research activity. Read more
Key Contacts
Specialty Lead: Dr Jonathan Berg
Performance Manager: Sarah Kennedy
Administrator: tay.tascportfolio@nhs.scot