Clinical Genetics and Biomarkers
Approximately 10% of people with ALS have a family history of the condition, but only a quarter to a third of these actually have a mutated SOD1 gene, leading to the conclusion that some other gene is responsible for those who have a family history of ALS without a mutated SOD1 gene. There is strong suspicion that complex genetics might also play a part in the development of sporadic MND cases. Much of the on-going genetic research is attempting to identify new genes as well as other genetic variants of known genes associated with MND.
When a biomarker is identified for a disease then the presence (or sometimes the absence) of the biomarker indicates the presence of a disease. Research has identified several possible candidate biomarkers for some forms of MND and it is hoped that some of these can be developed as tests both for the disease and as markers of disease progress.
