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Genetics

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.

Huntington’s Disease & other Neurodegenerative Disorders in Scotland: New Research Summits to Climb on Thursday 28th March, 2019 at the Scottish Health Service Centre, Crewe Road South, Edinburgh, EH4 2LF.

This event is aimed at all healthcare professionals involved in either the care of patients or research in the field. Clinical geneticists, genetic counsellors, neurologists, nurses, specialist clinical workers and neuropsychiatrists from across Scotland are all cordially invited.

The speakers will look at some of the impressive developments in the understanding and management of life-limiting neurological diseases and consider how we can improve research opportunities and treatment for affected individuals.

To register follow this link: https://hdresearchday.eventbrite.co.uk.

NIHR Musketeers Memorandum

The new NIHR Musketeers Memorandum (MM) website is now live. The 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.

Here you can find useful information relating to the Memorandum, including:

  • Musketeers' Memorandum Agreement
  • MM Open studies
  • MM Closed studies
  • MM Process
  • MM Eligibility Checklist 2018
  • List of NHS Organisations signed up to MM
  • MM AWI Guidance 2018
  • MM Schedule 1
  • MM Schedule of events exemplar
  • MM Statement of activities exemplar
  • MM Access Policy.

The 'MM Open Studies' document will be updated at regular intervals. If you would like to notify of any updates for your area please do get in touch on musketeers@nihr.ac.uk. If you would like to view an editable version of the open studies spreadsheet please also get in touch on musketeers@nihr.ac.uk.

Patient, carer and public information

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: Jillian Strachan