Project MinE is an independent large scale whole genome research project that was initiated by 2 patients with amyotrophic lateral sclerosis and started on World ALS Day, June 21, 2013. The symptoms of amyotrophic lateral sclerosis are caused by degeneration of motor nerve cells (motor neurons) in the spinal cord, brainstem, and motor cortex. The exact cause of this degeneration is unknown but it is thought that environmental exposures and genetic factors play a role in susceptibility to the disease. In 5-10% of patients the family history is positive for ALS. However, it is not always possible to establish the mode of inheritance in each pedigree and not all familial cases may suffer from a genuine Mendelian or monogenic disorder. Autosomal-dominant mutations in the C9orf72 and the SOD1 gene are found in a substantial number of familial ALS cases. Mutations in other genes (such as VAPB , ANG, TARDBP and FUS) have been reported, but are found at a much lower frequency and with variable penetrance, suggesting the involvement of other genes. More information...
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