The C9 (C9ORF72) Breakthrough
What is it?
C9ORF72 is the location of a gene abnormality--discovered by two independent research teams funded by The ALS Association--that accounts for a significant percentage of cases of ALS.
Who are the researchers?
The teams were led by Bryan Traynor, M.D., Laboratory of Neurogenetics, National Institute on Aging, and Rosa Rademakers, Ph.D., Mayo Clinic, Jacksonville, FL.
What is the significance of the breakthrough?
- The newly identified genetic mutation is the first genetic link between Frontotemporal Dementia (FTD) and ALS.
- It accounts for one-third of familial ALS.
- It is also the strongest genetic risk factor found to date for the more common, non-inherited (sporadic) forms of ALS and FTD
According to Lucie Bruijn, Ph.D., Chief Scientist for The ALS Association, the key implications of this breakthrough are:
- It is a phenomenal scientific finding that opens new avenues for research and will bring new scientists to the field of ALS research.
- ALS science is being pushed ahead rapidly by genetics. This announcement, following other recently discovered gene abnormalities, provides great hope that genetics can provide important answers about ALS, such as (1) showing the pathway and mechanism of the disease progression and (2) identifying targets for drug development.
- This research gets us closer to understanding the disease, linking two very different diseases together. The more we understand biology, and the more clues we have, the more likely we can develop treatments
- Scientists have already begun to identify how we use this knowledge to work toward the development of potential treatments. They will develop animal models and use induced pluripotent stem cells from people carrying this genetic defect to develop model systems in a dish and begin to understand the mechanisms involved.
