Genetics study

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.

The DNA itself will go the University of Queensland and to Canterbury Health

Laboratories, Christchurch, NZ. 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.

If you have a gene change that definitely caused your MND, you will have the option to learn this result.

You also have the option NOT to learn your result. We expect that about 15% of all participants with MND or 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 information about the overall results of the study.

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.