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Mining for clues – new DNA mapping project to discover the causes of Motor Neurone Disease

The Irish arm of a new worldwide project which will dig deep into thousands of in order to discover the genetic causes of Motor Neurone Disease (MND) has been launched in by Professor Orla Hardiman’s team of neurologists and geneticists in .

With scientists certain that most forms of MND have a genetic basis, a team of international collaborators, including a team from Trinity’s newly established Academic Unit of Neurology, have begun an unprecedentedly large scale genetic mapping project called Project MinE, which will map the DNA 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 (full DNA profiles) from MND patients and over 200 control genomes from all parts of Ireland.

More than 200,000 people worldwide are living with MND, a progressively degenerative neurological disease which 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 with the disease 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.

The scientists will perform comparative analyses between MND patients and control subjects to uncover associations between specific variations or mutations in genes and different forms of MND. By examining the genomes of thousands of MND patients and controls in minute detail the ground breaking research will open up new opportunities to discover the various genes that cause different types of MND.

Through Project MinE, people in Ireland have a chance to make a unique and direct contribution to this important scientific research by sponsoring the mapping of these DNA samples. On the project’s website (www.projectmine.com/country/ireland), visitors can opt to donate an amount of their choosing or sponsor a single chromosome or even a full DNA profile. 100% of all donations and funds raised for Project MinE will go directly towards the mapping and analysis of DNA profiles.

The samples that are collected will be profiled with the aid of whole genome sequencing techniques, using DNA extracted from blood samples. 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. Huge improvements in the technologies used allows the Project MinE team to undertake this ambitious project today – a single genome can now be sequenced in one day, in one lab, at a cost of about two thousand euros.

The information Professor Hardiman’s team gleans from the DNA profiles will be used in their research 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, diabetes, autism and some cancers.