Motor Neurone Disease (MND) refers to a group of adult-onset neurodegenerative conditions. Between 5-10% of cases of MND are inherited. Where there is a family history of MND, several members of the same family may have been affected by the condition. Whilst scientists are discovering more and more about inherited MND, and some people can be tested for particular gene mutations to find out the cause of their disease or whether they are at risk of developing MND in the future, a lot remains unknown.
This research investigates the experiences of people diagnosed with an inherited form of MND, those who may be at risk of developing it in the future, and other family members. It explores how families make decisions around issues including genetic testing, reproductive choices, caring roles, and communication around inherited MND. It also seeks to understand how families deal with genetic information and what kinds of support and information would be useful to them.
This research uses a range of qualitative methods:
- A review of qualitative social science research on experiences of MND; A scoping review and thematic synthesis of qualitative literature on experiences of Huntington’s Disease, as a parallel adult-onset inherited condition; A thematic analysis of the small body of literature on experiences of inherited MND
- An analysis of postings on an online forum for people affected by MND, focusing on questions and concerns faced by people affected by inherited forms of the disease.
- Semi-structured interviews with 40-50 people affected by inherited MND, including people who have been diagnosed with inherited MND, people ‘at risk’, and other family members and family caregivers, such as partners.
This research will contribute to understandings of experiences of inherited MND and other hereditary conditions. Findings will be shared with families and healthcare professionals.
Supervision: Professor Louise Locock (University of Aberdeen), Dr Fadhila Mazanderani (University of Edinburgh), and Dr Karen Keenan (University of Aberdeen).
Jade Howard; firstname.lastname@example.org
In set up