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Resources to support families
Resources to support families
Decision aids for genetic testing in motor neuron disease - myMNDgenetest
Decision aids for genetic testing in motor neuron disease - myMNDgenetest
The Universities of Sheffield and Leeds have developed decision aids to help individuals and families understand the implications of genetic testing for MND and make informed choices about whether to undergo testing.
There are two decision aids available:
One for people diagnosed with MND, who are thinking about genetic testing (Genetic Testing and MND)
One for people with a gene change linked to MND in their family, who are thinking about predictive testing (Predictive Genetic Testing and MND)
Both are available as online tests and as a downloadable version to use offline.
Health Talk
Health Talk
An online resource has been created for families facing inherited forms of MND. Health Talk is a website where you can learn about what it’s really like to live with a health condition by watching other people share their own stories on film.
A collection of interviews has been created with MND family members, symptomatic and asymptomatic, providing a range of experience and views on genetic testing to help individuals get a broader perspective in their own decision making:
https://healthtalk.org/introduction/inherited-motor-neurone-disease-mnd/
FaTHoM
FaTHoM
The University of Oxford runs an initiative to bring together the community of families affected by inherited forms of MND, called "Families for the Treatment of Hereditary MND (FaTHoM)".
You can find out more about the initiative on their website:
https://www.ndcn.ox.ac.uk/research/oxford-motor-neuron-disease-centre/research-projects/fathom
Research opportunities
Research opportunities
MAGNET is a platform trial to simultaneously investigate the efficacy and safety of multiple drugs for MND. We do this by using so-called 'study arms'. Each study arm investigates the efficacy and safety of one drug or a combination of drugs.
Currently one arm is active, which is investigating the effect of lithium carbonate. Previous research has shown that lithium is not effective in all patients with MND, but may be beneficial in patients with a variation in the UNC13A gene (1 in 6 patients has this variation).
Can I take part in the study?
The main criteria to participate in the study are:
Be 18 years of age or older
Have a confirmed diagnosis of MND
Have a mutation in the UNC13A gene (genetic testing is carried out as part of screening assessments for the study)
The ACORN study aims to understand how the C9orf72 gene expansion causes ALS and FTD in some but not all carriers, and the timing if so. ACORN involves people from all over the UK who are known to have ALS or FTD caused by the C9orf72 genetic change. It also involves their close relatives (e.g. siblings or adult children) who may or may not be at higher risk of future ALS or FTD. With their permission, ACORN will develop a register of people who carry, or who are at risk of carrying the C9orf72 gene expansion, and who are keen to take part in research. These studies will define disease markers and predictors. Importantly, this research can be done without relatives needing to know their own genetic status.
Can I take part in the study?
The main criteria to participate in the study are:
Be 18 years of age or older
Fall into one of these four groups:
Have MND or FTD and it has been confirmed that you carry the C9orf72 gene expansion
Are a first degree relative (parent, sibling or child) of someone who carries/carried the C9orf72 gene expansion (you may or may not know if you yourself carry this expansion)
Have apparently sporadic MND or FTD (known not to be genetic)
Have NO family history of MND or FTD and wish to join the study as a healthy volunteer.
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