The international consortium of researchers connected to the patient-driven Project MinE has identified a new ALS gene, named C21orf2. In […]
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100 Prozent aller Spenden für das Projekt Mine werden direkt für die Analyse und Kartierung von DNA-Profilen verwendet.
The Academic Unit of Neurology of Trinity College Dublin, Research Motor Neurone (RMN) and the Irish Motor Neurone Disease Association (iMNDA) are partners in Project MinE and aim to analyse 700 DNA samples of ALS patients and 350 DNA samples of control subjects.
The Academic Unit of Neurology is part of the School of Medicine at Trinity College Dublin and houses the Irish ALS Research Group. The Unit has close links with colleagues at the Institute of Neuroscience, and the Neurology Units at St. James and Tallaght Hospital and the National Neuroscience Centre at Beaumont Hospital. The Irish ALS Research Group includes international experts in cognition, imaging, clinical management, epidemiology and genetics of ALS. Our group has conducted the first population based longitudinal study of cognition and behaviour in ALS, was the first to show that the phenotype and natural history of incident and prevalent patients with ALS/MND differs; that attendance at a multidisciplinary clinic independently improves survival, and that the presence of executive impairment is an important determinant of disease progression.
Project MinE is important to our group as we have already shown that the gene ANG as an important genetic modifier in ALS, that genetic admixture is likely to be protective in ALS, and that some neuropsychiatric conditions occur with higher frequency in ALS kindred, suggesting a commonality in genetic susceptibility. As the Irish population is genetically homogeneous and the Irish Register collects detailed clinical information about the condition, our ongoing work in the genetics of ALS in the Irish population is likely to provide further important insights into ALS that can in turn translate into earlier diagnoses and new treatments.
Research Motor Neurone is an Irish charity founded in 2007, with the purpose of promoting and facilitating research into the causes and treatments of motor neurone disease (MND). RMM provides seed funding for ongoing research to find the cause, treatment options and methods of improving the quality of life of MND sufferers and their families.
The Irish Motor Neurone Disease Association is the primary support organisation in Ireland providing care for people with Motor Neurone Disease, their families, friends and carers. Key services include home visiting by an MND dedicated nurse, financial assistance towards home care help and the provision of specialist medical equipment and appliances on loan free of charge to clients. The Association also supports research into the causes and treatment of the disease through specific financial bursaries.
Project MinE research in Ireland is performed at the Academic Unit of Neurology of Trinity College Dublin.
For questions about Project MinE in Ireland, please contact
Telephone: 086 8212659
www.facebook.com/ProjectMineIreland
Twitter: @ProjectMineIRE
Professor Orla Hardiman is leader of the Irish ALS research group and runs the national multidisciplinary ALS clinic in Ireland. She is also the founder of the Irish ALS Register, which is the longest continuously running ALS Register in the world. The main research interests of her group include deep phenotyping, epidemiology, and pathogenesis of amyotrophic lateral sclerosis (ALS) with particular reference to the identification of genetic and environmental susceptibility factors. Recent work has focused on the clinical and genetic overlap between ALS and frontotemporal dementia. Her research group is in active collaboration with many of the major ALS centres in Europe and the USA.
In Ireland fundraising for Project MinE is led by Research Motor Neuron and the Irish Motor Neurone Disease Association.