New genetic cause of ALS identified!

C9orf72For a long time scientists have known that, on chromosome 9, there is a gene of great importance to both ALS and frontotemporal dementia (FTD). This gene has however remained elusive…until now: Thanks to the participation of fALS patients and their families in our research studies, we have been able to contribute to the efforts of an international consortium (led by our collaborator, Dr. Bryan Traynor, at the NIH) that identified this gene – called C9ORF72 – on chromosome 9p21. We estimate that approximately 25-30% of familial ALS cases are caused by mutations in the C9ORF72 gene. Even more significantly, mutations in this gene also appear to be the cause of about 20% of sporadic (non-familial) ALS cases in Finland; to what extent this is true for sporadic ALS in other populations, including those in the U.S., is not yet known but an area of active research. Very timely, another group of researchers at Mayo Jacksonville also independently made the same discovery of the C9ORF72 gene. These landmark findings are reported online in the journal Neuron this week. Please contact us (fals@med.miami.edu, 888-413-9315) to learn more about how this new genetic discovery may open up opportunities for you and your family to participate in our research.

MDA Press release

NIH Press Release

Journal Watch