One of our Falls Church, Virginia ET support group members has signed up for and made us aware of this very large genetics study in Montreal, Quebec, Canada. It comes on the heels of an exciting large genome-wide association study (GWAS) conducted by researchers at Montreal Neurological Institute and Hospital and Kiel University in Germany and written about in Brain, as detailed in the article. Click article link for more details …
On December 6th, I met with Dr. Claudia Testa of the Virginia Commonwealth University’s Parkinson’s & Movement Disorder Center. She is one of the foremost experts on genetics concerning Essential Tremor (ET). She told me that there is a good possibility that ET is not caused by a single change in a single gene. This means there is not one mutated “ET gene” that can just be corrected. Instead, there are probably many different genetic changes that add up to ET. This highlights the challenges faced by those doing the research regarding ET. The longer I am the Executive Director of HopeNET, the more I appreciate the challenges faced by these researchers. As I have said many times, the brain is the most complex object known to man.
However there is good news that should help the research process. First of all, many researchers are taking the approach of not labeling patients but rather grouping them according to the symptoms they share. In other words, not simply grouping those with ET or Dystonia but rather, those with severe hand tremor, voice tremor and problems with balance – for example.
Another positive development is the desire to have Common Data Elements (CDE) for ET. Quite simply, this would help ensure that researchers compare apples to apples & oranges to oranges.
The picture in creating better treatments and ultimately a cure is daunting. But the picture has never looked better than it does now. There is hope.