The study is to learn more about the relationship between the genetic and environmental (non-genetic) risk factors that lead to MND.
Currently, the exact cause of MND is unknown and the only known risk factors are male sex, increasing age and a family history of the disease, while certain risk genes including the C9orf72 gene are linked with MND.
The aim of this study is to further our understanding of the exact causes of MND. In particular, it looks at how lifestyle factors interact with risk genes like C9orf72 to cause MND.
Over three years, the study team aim to recruit approximately 50-100 people with MND who have a C9orf72 mutation, and a further 100-200 family members who have tested positive for the C9orf72 gene but do not have symptoms of MND.
The study will involve a one-off virtual interview using a questionnaire. Participants will be asked some additional questions about medical history and lifestyle. The data collected will be stored confidentially by the University of Sheffield.
It is hoped that the study will enable researchers to learn more about the relationship between the genetic and environmental (non-genetic) risk factors that lead to MND. This will also allow them to develop personalised medicine interventions, potential preventative strategies and provide guidance to genetically at-risk families.