Researchers from the University of Sheffield as part of the AMBRoSIA biobank, have found higher than expected genetic changes in a group of 100 MND patients. 42 of the 100 people (21%) with MND in this study showed some form of variants in the 44 known MND-linked genes. 35 of these 42 people (93%) had no family history of MND which shows that some familial and sporadic cases can share the same genetic cause of disease. The researchers propose that a test for the most common MND genes could be offered to all patients in the future, whether they have a family history of the disease or not. This could impact on disease sub-classification and clinical care, especially when drug companies are developing approaches to treat MND by specifically targeting associated genes to reduce the damage caused to motor neurons.
The full paper can be accessed here
A summary of the paper provided by MNDA Research Blog can be found here
