GLT8D1: new gene identifies novel disease mechanism

MND Association-supported clinical fellow Dr Johnathan Cooper-Knock, and a PhD student Tobias Moll, report mutations in a new MND gene which has uncovered a previously unknown disease mechanism. The new MND causing gene holds instructions for a class of proteins, called glycosyltransferase (GLT8D1), which has not previously been associated with neurodegeneration.

During the experiments, published in the journal Cell Reports, the research team read the genetic code from two related patients with an unknown familial (inherited) form of MND and found a change in the gene that makes an enzyme called GLT8D1. They went on to examine a larger sample of 103 people with inherited MND and found that five of these also had this gene abnormality, indicating that this change causes MND. Because the enzyme and its mechanism have never previously been associated with MND, this study has uncovered a new genetic and biological cause of the disease.Read More »

New genetic discoveries tell us more about what causes MND – Part 2

Two sets of MND genetic results were published yesterday. One of these results was about the importance of a new gene called NEK1. The second highlighted the role of gene C21orf2 in MND – we wrote an article about this yesterday. Both sets of results were published in the prestigious journal Nature Genetics.

What are the results and what do they tell us?

Researchers found that variations in the NEK1 gene contribute to why people develop the rare, inherited form of MND. Variations in the NEK1 gene were also found to be one of the many factors that tip the balance towards why people with no family history develop MND.

NEK1 has many jobs within motor neurones including helping keeping their shape and keeping the transport system open. Future research will tell us how we can use this new finding to target drugs to stop MND.Read More »

New genetic discoveries tell us more about what causes MND – Part 1

Today some exciting news about the genetics of MND was published in the scientific journal Nature Genetics. The results come in two research papers published in the same issue of the journal.

This blog post discusses the results of the first of these papers for which King’s College London based Professor Ammar Al-Chalabi was one of the leading researchers. A post on the second paper will follow later.

Here we’ve given an overview of what the researchers have found, what it means for people with MND and how the analysis was conducted. You can read a more detailed explanation of the research results from the King’s press release.Read More »

Working together towards a world free from MND

During MND Awareness Month we are highlighting some of the research the MND Association funds in our ‘Project a Day’ series. Today, on global ALS/MND awareness day, we wanted to give you a look at the research into motor neurone disease taking place elsewhere.

Thousands of researchers across the globe are working towards a world free from MND. Rather than tell you each of their stories, we have gone to those that fund and facilitate this research, and asked them how their efforts bring us closer to figuring out the causes of MND, and finding treatments for this disease.

“I find huge inspiration in the knowledge that when I finish my work for the day, the MND researchers in Australia are just beginning theirs.” Prof Martin Turner, University of OxfordRead More »

30 chapters of MND research

During MND Awareness Month (1-30 June), we will be publishing a new post each day. Our ‘Project a Day’ series will celebrate the whole range of areas in which the MND Association funds research.

Thanks to the generous donations of our supporters, we currently fund over 80 research projects, across five themes:

  • Causes: These projects aim to understand what causes the motor neurones to die. This is essential to allow the development of treatments.
  • Models of MND: One way in which to understand the function of a gene and how this goes wrong in disease is to use a model. These projects aim to develop new and better models of MND to understand the causes of MND.
  • Healthcare: These projects aim to increase the quality of life of people living with MND, as well as improving care. These projects have a direct impact on people living with MND here and now.
  • Markers of disease progression: There is currently no diagnostic test for MND and no specific ‘biomarker’ to monitor the disease. These projects aim to find a marker of disease progression to speed up diagnosis, prognosis and disease monitoring of MND.
  • Developing treatments: These projects aim to test the effectiveness of potential treatments, from laboratory stage to the clinical trial environment.

Read More »

Looking for MND genes: Project MinE update

Project MinE is an international genetics project that is analysing DNA from people with MND in detail.

For the majority of people with MND, the disease appears ‘sporadically’ for no apparent reason. For a small number of people, approximately 5-10% of those with MND there is an inherited link, in other words the disease runs in their families.

We know a lot about the genes that are damaged in the rare inherited forms of MND. We also know that very subtle genetic factors, together with environmental and lifestyle factors contribute to why the majority of people develop the disease. These subtle genetic factors are very hard to find.

The goal of Project MinE is to find the other genes that cause inherited MND and help us find out more about these subtle genetic risk factors.

mine

Project MinE was born when Dutch entrepreneur Bernard Muller challenged his neurologist to do something with all the DNA samples in his freezer – samples being stored there for future analysis. ‘Why can’t those samples be analysed now?’ was his question. That was two years ago!Read More »

On the twelfth day of Christmas MND research gave to me: twelve – a low number of authors on a research paper

The final day of our ‘twelve days of Christmas’ blogs has arrived. We hope you’ve enjoyed our festive overview of 2014 and we look forward to sharing many more research updates throughout 2015!

 “On the twelfth day of Christmas MND research gives to you… TWELVE – a relatively small number of authors for an MND research paper, the TUBA4A paper had 68!”

Dr Bradley Smith, King's College London
Dr Bradley Smith, King’s College London

Gone are the days where there are only three authors on a research paper, especially in genetics! Gene hunting requires a lot of researchers to process and understand a whole lot of data. For instance, the information contained from one human genome is 100Gb of data, that’s equivalent to 102,400 photos!

Now… Project MinE is sequencing at least 15,000 MND genomes! When this research is completed, and the work gets published, it’s going to be a very long list of authors!

Click here to read more about the inherited MND gene, TUBA4A, which was identified in 2014 by 68 MND researchers!

Project-MinE

Barbara Thuss is project co-ordinator for Project MinE, an international initiative with the aim of sequencing at least 15,000 MND genomes. We announced earlier today that the MND Association is funding the UK-arm of this initiative, known as the Whole Genome Sequencing project. Here Barbara explains more about Project-MinE.

Although the precise cause of MND is still unknown, in recent years it has become increasingly clear that this devastating and fatal disease of the motor neurons has a genetic basis. Project-MinE is an ambitious international research initiative aimed at detecting genetic causes and risk factors for MND. The project has been initiated by two people living with MND, along with the ALS research group in the Netherlands.

mineRead More »

The UK Whole Genome Sequencing project

Dr Samantha Price is the Research Information Co-ordinator at the MND Association. As well as organising the ‘blog a day’ during MND Awareness Month she also communicates the latest news about MND research. Here she blogs about the MND Association’s announcement of the UK Whole Genome Sequencing project.

It’s been a brilliant Awareness Month with blogs about zebrafish research and streaking meerkats. To end on a positive research note, we’re delighted to announce that we are funding a UK Whole Genome Sequencing project to help us understand more about the causes of MND. Utilising samples from our own UK MND DNA bank; researchers in the UK will aim to sequence 1,500 genomes to help identify more of the genetic factors involved in the disease.  Read More »