Vivien Williams: In this lab, Dr. Rosa Rademakers and her team have been on a quest to find a cause of two deadly diseases - Lou Gehrig's disease or ALS and frontotemporal dementia or FTD, which is a type of dementia unlike Alzheimer's disease in that it causes personality changes not memory loss.
Rosa Rademakers, Ph.D., Neuroscience Research, Mayo Clinic: It was really kind of a race to try and find this.
Vivien Williams: For four years, they studied the genetic information of families who had ALS and FTD.
Dr. Rademakers: One day, we were looking at the computer screen and all of sudden there was this special pattern that was only present in the patients and not present in the healthy individuals. And at that moment, we knew that this was very likely to be it.
Vivien Williams: A never before seen genetic mutation.
Dr. Rademakers: And you can see that this pattern here, where the peaks are big and then they are small. This strange pattern is not present in the two healthy individuals.
Vivien Williams: Dr. Rademakers says before her discovery there were some genes found that were thought to cause about 20% of all ALS and FTD cases, but her discovery explains even more - up to half of all ALS cases and about 1/3 of all FTD cases.
Dr. Rademakers: Every time we identify a new gene, we understand a little bit more about what it is that's causing the disease in these patients. What it is that makes these brain cells die.
Vivien Williams: Dr. Rademakers says this discovery will open avenues of research that may one day lead to effective therapies to help improve and prolong the lives of victims of these diseases.
Dr. Rademakers: Our hope is that we find methods to identify who will develop the disease, so that we can interfere with it before it's too late, before the important brain cells have died.
Vivien Williams: For Mayo Clinic News Network, I'm Vivien Williams.