DNA mapping to investigate causes of motor neuron disease
26 January 2015
A new worldwide project that will dig deep into thousands of DNA profiles in order to discover the genetic causes of motor neuron disease (MND) is being launched in Ireland by Prof Orla Hardiman’s team of neurologists and geneticists in Trinity College Dublin.
With researchers certain that most forms of MND have a genetic basis, a team of international collaborators, including a team from Trinity’s Academic Unit of Neurology, are taking part in an unprecedentedly large-scale genetic mapping project called Project MinE, which will sequence the genomes (the full DNA profiles) of at least 15,000 people with MND and 7,500 control subjects (healthy individuals without the disease). The Trinity Neurology team is planning to sequence at least 400 genomes from MND patients and over 200 control genomes from all parts of Ireland.
MND is a devastating neurological condition where nerve cells (motor neurons) in the spinal cord, brainstem and brain progressively deteriorate and die. There is no cure. Most often, the first symptoms of MND are reduced strength in the arms and/or legs, or difficulty speaking, swallowing, or breathing. This leads to paralysis and eventually death through respiratory failure, in most cases within 3-5 years of onset.
More than 200,000 people worldwide are living with MND and it affects about 300 people at any given time in Ireland, with some 110 new cases reported each year. While scientists and clinicians know the cause of MND in about 10-15% of patients in Ireland, the cause for the remaining 85-90% remains unknown, but is thought to be due to a combination of genetic and environmental factors.
In Project MinE, Irish scientists, along with international collaborators, will perform comparative analyses between MND patients and control subjects to uncover associations between specific genetic variations or mutations and MND. By examining the genomes of thousands of MND patients and controls in minute detail the groundbreaking research will open up new opportunities to discover the various genes that cause different types of MND.
Ultimately, exploring the function of these genes, identifying how they interact with one another, and how these interactions occur in those with different types of MND, will lead to an improved understanding of disease mechanisms for which targeted treatments can be developed.
Genome sequencing of DNA samples
DNA samples that are collected from MND patients and healthy controls will be profiled with the aid of whole genome sequencing techniques. In recent years, emerging technological developments have helped to make initiatives like Project MinE possible. In 2001, the first full genome was sequenced at a cost of about 2.7 billion euros (in today’s money), involving thousands of scientists and taking ten years. Today, a genome can be sequenced in one day, in one lab, at a cost of about €2,000. However, the vast technological improvements also mean vast increases in the volumes of data produced, which means that suitably powerful computing infrastructures are required to handle, store and analyse the data.
Every bit a ‘big data’ challenge, Project MinE will generate some 1.8 petabytes of data at the peak of its analysis, and will require at least 700 CPU years to complete. To address this, Prof Hardiman’s team will make use of Ireland’s national supercomputing resource, the Irish Centre for High-end Computing. European collaborators, including the Irish team, will also have access to the Dutch SURFsara supercomputing infrastructure, currently ranked 45th in the TOP500 list of the world’s most powerful supercomputers.
However, perhaps the biggest challenge is meeting the funding requirements for this ambitious but highly worthwhile project. To this end, Project MinE has taken the unique approach to appeal to the public within its participating countries to help support the research. On the project’s website, visitors can opt to donate an amount of their choosing or sponsor a single chromosome or even a full DNA profile. The website also offers assistance to those wishing to set up a fundraising campaign for Project MinE. 100% of all donations made to Project MinE go directly towards the sequencing and analysis of these DNA profiles.
By sponsoring this research, benefactors are also helping a broader range of scientific and medical research in Ireland and beyond. The data Prof Hardiman’s team generates through Project MinE will be used in their research in MND in Ireland and all data generated as part of the overall worldwide collaboration will be freely exchanged amongst those working on Project MinE.
The genome sequences from control subjects will also serve as a rich resource of Irish genetic data for scientists and clinicians working on other disease areas which may have a genetic basis such as dementia, Parkinson’s disease, diabetes, autism and some cancers. Project MinE is therefore heralding a new frontier in biomedical research in Ireland and helping to maintain our position in the world as leaders in research and innovation.
For more information, please click here. If you are interested in helping to fundraise for this project or in donating a blood sample, please contact email@example.com. If there is sufficient interest, a member of the team could come to Clyde Road at a suitable event, to speak to people about the project and collect blood samples. See below for an information video on the Trinity research.http://www.engineersjournal.ie/2015/01/26/dna-mapping-motor-neuron-disease-ireland/http://www.engineersjournal.ie/wp-content/uploads/2015/01/Dr-Russell-McLaughlin-TCD-geneticist-1024x819.jpghttp://www.engineersjournal.ie/wp-content/uploads/2015/01/Dr-Russell-McLaughlin-TCD-geneticist-300x300.jpgNewsDNA,research,Trinity College Dublin