SOD1 Stuff

With all the talk of new gene discoveries in recent years, the Sunday morning scientific session returned to the original discovery in 1993 that mutations in the SOD1 gene were responsible for around a fifth of familial (inherited) MND cases and 2-3% of all cases of the disease.

Although much of our understanding of MND in the past two decades comes from SOD1 laboratory models of the disease, we still don’t know exactly how SOD1 kills motor neurons. But that hasn’t stopped several groups from working on a number of innovative ways of protecting motor neurons from SOD1 toxicity. Although focused on a relatively rare form of MND, some of the strategies being followed could potentially also be applicable to other forms of the disease.

sod1 stucture Read the rest of this entry »

Gastrostomy in MND: Progress in ProGas

9 bAs well as biomedical research, we fund healthcare research to lead to better symptom management and support for people living with MND. On the final day of the symposium, Dr Stavroulakis from the Sheffield Institute for Translational Neuroscience (SITraN), presented results on his Association-funded research. 

In some people living with MND, the muscles involved in chewing and swallowing can become slow, weak and/or uncoordinated. This can cause difficulty when eating and drinking.  Read the rest of this entry »

The causes of MND – what about head injury?

6 bHead injury has been a hot topic in the media in relation to MND. I also receive a number of enquiries from people living with MND asking about the causes of MND, and whether past head injury may influence this? This very topic was discussed in the epidemiology session on the second day of the 25th International Symposium on ALS/MND.

We know that the majority of cases of MND are caused by a combination of subtle genetics, lifestyle and environmental factors. We have identified some of the genetic factors involved; however the environmental and lifestyle factors remain somewhat elusive.  Read the rest of this entry »

Heads up! The Sheffield Support Snood

5 b (3)During the second day of the symposium Association-funded researcher, Dr Chris McDermott, presented his highly anticipated research on a new neck support for people living with MND.

Our healthcare research aims to lead to better symptom management and support for people living with MND. We know that neck weakness is an extremely distressing problem in MND and it is very difficult as a clinician to treat this.

Dr Chris McDermott from the Sheffield Institute for Translational Neuroscience (SITraN) said that he wanted to address this problem by working with people living with MND to develop a solution.  Read the rest of this entry »

Neurofilaments show promise as biomarker candidates for MND

TiskSaturday afternoon saw the 25th International Symposium on ALS/MND expand from two to three sessions running in parallel. Times have changed from the early years of the meeting when sessions finished at lunchtime on the second day because there wasn’t enough stuff to talk about!

Rather than flitting between three different lecture halls, I opted to immerse myself in the Biomarkers session, especially since the session was being kicked off with presentations from MND Association funded investigators.  Read the rest of this entry »

Assistive technology and the power of voice

4 b (3)Our general election campaign for 2015 is featured around communication because we believe that nobody should have to lose their voice to MND. The afternoon session on Friday 5 December during the 25th International Symposium on ALS/MND also focussed on this topic.

Around 80-95% of people living with MND will face communication problems as their speech deteriorates. Through local and national campaigning we can give people living with MND a voice; be it signing the MND Charter or by influencing the 2015 general election campaign.  Read the rest of this entry »

MND Association joins as a Founding Partner of the Neurodegeneration Medicines Acceleration Program

MRCTEver since the G8 summit on Dementia less than a year ago there has been a huge upsurge in international research activity in the field. In the UK, our friends at MRC Technology (an independent medical research charity which aims to bridge the gap between fundamental research and clinical application) were instrumental in forming a Dementia Consortium to aid drug discovery and help charities, universities and drug companies to work more closely together.

Earlier this year, the MND Association and ALS Association met with MRCT to discuss the possibility of extending the collaborative model across other neurodegenerative diseases such as MND and Parkinson’s disease.  This idea has generated a lot of enthusiasm from charities and patient organisations on both sides of the Atlantic, which has resulted in the launch of the Neurodegeneration Medicines Acceleration Program at the Partnering for Cures conference in New York. Find out more about this here. Read the rest of this entry »

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