Genetics study
A research initiative led by Associate Professor Emma Scotter (Centre for Brain Research, The University of Auckland), Dr Richard Roxburgh (Neurogenetics Clinic, Auckland City Hospital), and collaborators are recruiting for a study of the genetics of motor neurone disease in New Zealand.
Recruitment update
They are no longer recruiting people with sporadic MND (without a family link).
Recruitment is now only for people with familial MND (you and one or more closely related family members have been diagnosed with MND or frontotemporal dementia). The researchers might also offer further research for your family members including a family meeting/hui. Please contact the researchers for more information.
The purpose of the study is to understand the genetic causes of MND in New Zealanders. In addition, the study aims to test how certain MND gene mutations affect human cells.
For more information or to participate contact Associate Professor Emma Scotter via email:  or .
What samples and information would I need to give?
We need 2–3 tubes of blood for the testing. We invite control participants and 30 people with familial MND to give a small biopsy of arm skin tissue. Your personal and clinical information will be collected when you register with the MND Registry. This is a necessary and required part of the genetics study.
Where will my DNA go?
The DNA itself will go to Canterbury Health Laboratories, Christchurch, NZ and to international laboratories for gene testing. You can decide whether you want to share your gene code information with other researchers internationally too. In this case, your name would not be shared, just your anonymous gene code.
What will I learn?
If you have MND you can choose whether to learn your genetic result or not.You have the option NOT to learn your result. We expect that about 70% of those with familial MND will have a gene code change that definitely caused their MND.
If we don’t find good evidence that a gene code change caused your MND, we will still give you a summary of the overall results of the study.
Is it better to know if I have a gene change that caused my MND or not?
Knowing that you have a gene code change that causes MND can be empowering, and therapies are being developed for some genetic forms of MND, so knowing you have genetic MND may allow you to access these therapies in future.
However, knowing you have a genetic form of MND may affect your insurance, and will have important implications for your family. These issues will be discussed fully during the study consent process.
Health and Disability Ethics Committees approval 19/CEN/7.
The study is funded by the Neurological Foundation of New Zealand and also welcomes philanthropic contributions.