Dear Katherine, Emma, Christopher and Rob

Thanks to your support, and that of our regular donors, I have been studying
inherited (familial) Motor Neurone Disease (MND) at the Institute of Psychiatry,
King’s College London.

Whilst most cases of MND are sporadic in nature, 5-10% of people have a family
history of the disease suggesting a genetic cause. Different genes are mutated in
different families but most of these mutations are yet to be identified. By studying
MND families, identifying new mutations and determining their biological impact, my
colleagues and I are learning more about what causes MND. This will ultimately lead
to more effective therapies.

However, the human genome is vast, making ‘gene-hunting’ extremely difficult.
Large families with lots of affected members are ideal for pinpointing the region in
which the gene lies, but most families are typically small. Analysing families with
MND is particularly challenging due to the rapid progression of the disease. It can
be difficult to obtain DNA samples. In addition, individuals who have mutations don’t
necessarily develop disease and MND can appear to skip generations, potentially
confusing our analysis.

Your donations are helping us to use the latest gene-hunting technologies to
identify causes of inherited MND. The use of ‘GeneChips’, computer technology and
continued efforts to collect DNA from generous families affected by MND will help us
to identify yet more mutations in the future.

Thank you for helping to make this study possible, we appreciate your support.

Dr Caroline Vance and the MND Team