Genome Testing

[Guest]

Hi All,
I am caring for someone with MND who saw the BBC documentary called "Gene Silencing".
They would like to know if they should get a full genome test to identify their type of MND?
Any thoughts?
Thank you,
Wiggy

[Ellie]

Hi Wiggy & welcome to the forum.

While it may be good to know the genetic mutation involved in your client's / friend's / family member's MND, it should be done with a degree of caution - insofar as the gene involved may be an inheritable one (a de novo case) This would be rare, but possible.

Atm, gene silencing in MND is an exciting and fast-moving area of research, but it has yet to be translated into a therapy. However, great strides are being made in the area of understanding the intricacies of the various genes involved in MND.

I guess what I'm saying is, notwithstanding the cost of the genome sequencing, is it worthwhile having the info? That's the question, to which I don't have an answer...

All the best,
Ellie.

[MNDConnect]

Hi Wiggy

I have contacted our Research Team to ask them for their thoughts on this. I will get back to you as soon as I hear back from them.

Best Wishes

Rachel

[Wiggy]

Thanks Ellie for your views, good to know this is an area which is progressing.
Thanks Rachel, looking forward to further insights.

Wiggy

[nunhead_man]

Thanks Rachel, looking forward to further insights.

As I do!

[MNDConnect]

Hi

I've received the following response from our Research Team regarding the gene silencing. I do hope that it helps to answer some questions.

Best Wishes

Rachel

Research Team:
Your enquiry raises several questions. Is there a family history of MND or frontotemporal dementia? Does the person who is living with MND have family that they are concerned may now have a faulty gene? Are they hoping that gene silencing may stop their own faulty gene from expressing and therefore stop progression of the disease?

I will try to answer these questions and, hopefully, this will give you the information you require.

A small proportion (5-10%) of people with MND have a family history of the disease. This form of MND is known as familial, or inherited, MND. Inherited MND is caused by a mistake in the genetic code that holds the instructions for making every protein in our bodies; this mistake may be passed down from one generation to the next.

A strong indication of whether someone has inherited MND would be if a parent, sibling, uncle or aunt has been affected. The neurologist that has been caring for this person should have discussed family history with them, to try and determine whether or not they have an inherited form of the disease. If it has been established that they have inherited MND it may be possible for them to have a genetic test to find out which gene is causing the disease in the family. There are, however, a small proportion of genes which have not yet been identified through research, so testing for these is not available at present.

If none of their relatives have been affected, they may have a form of sporadic MND. The majority of cases of MND are likely to be caused by many small contributory risk factors, including subtle genetic, environmental and lifestyle influences. In combination, these factors may ‘tip the balance’ towards someone developing the disease. Although genes may have played a part in triggering MND, the disease was probably not caused by a major mistake in their genetic code. This does mean that there is very little likelihood that children or siblings will be affected.

There has been some recent research about ‘antisense oligonucleotides’ and their use as a possible treatment for Huntington’s Disease, which I think is the programme that you are referring to. The studies investigating this treatment are still at an early stage. The current trial is testing to see if the oligonucleotides can get inside the brain and reduce the amount of huntingtin mutant protein, which is responsible for the nerve cell damage. We don’t yet know whether the drug will slow down the disease.

However, this kind of treatment has been successfully used in spinal muscular atrophy (SMA). In a clinical trial that completed earlier this year, antisense oligonucleotides were used to reduce the damage caused by a faulty version of a gene that is mutated in SMA.

Similar approaches are being developed for some of the rare genetic causes of MND where the disease runs in families. The drug company, Ionis, is conducting studies focusing on patients with the SOD1 form of MND. The company is also testing a similar approach for the C9orf72 form of MND. This work is still at the laboratory stage, but the company is making plans to start early phase clinical trials in late 2018. You can read more about this on our treatment trials page.

I am assuming that the person you care for does not know if a specific gene has caused their MND. Even with this knowledge, there are currently no effective gene therapies available to people living with MND. If, for some reason, it has not been established if their MND is familial or sporadic, then it may be worth them having a test to establish this. This should, however, be discussed with and offered by their neurologist.

Our website page about inherited MND will expand on the information I have given you. You will find the links to three Information Sheets about inherited MND here which will also give you more information. You may also find the pages causes of MND useful.

[Wiggy]

Rachel,

Thanks for posting the Reasearch Teams response and please thank them for their very comprehensive reply.

Regards,
Wiggy

[MNDConnect]

Hi Wiggy

You are very welcome. If you have any questions or if there is anything else that we can help you with then please don't hesitate to get in contact with us either via the forum, by email at [email protected] or on 0808 802 6262.

Best Wishes

Rachel