Short update on PSP/CBD genetics study

As many of you know, CurePSP (the new name for the Society for PSP) began the multi-year Genetics Consortium a couple of years ago. This description is from the 2008 CurePSP annual report:

“The CurePSP Genetics Program is a multi-year venture sponsored and supported by CurePSP (The Society for Progressive Supranuclear Palsy). Our goal is to search the entire genome for genes related to PSP and CBD and to identify previously unsuspected abnormal biochemical pathways against which scientists may be able to target therapeutic interventions. All activities will be carried out by the CurePSP Genetics Consortium, composed of neurologists, geneticists, and other scientists from the United States, the United Kingdom, and Germany working in collaboration with neuroscientists throughout the world.”

You can find a good layperson-oriented description of the genetics program starting on page 51 of the CurePSP 2008 annual report.

Last year, about this time, it was reported that the goal was to have 1000 PSP brains included in the study but they ended up with 1300 PSP brains. I’m unclear as to how many CBD brains were examined but I’m assuming it’s several hundred.

Certainly all of the PSP and CBD brains donated to Mayo Jax were included in the study, as the brain bank there has several hundred PSP brains and around 100 CBD brains, and Mayo Jax is part of the research consortium (though it’s not the lead institution).

If your loved one has donated brain tissue to a brain bank other than Mayo Jax, perhaps you can inquire if the tissue was sent to the Genetics Consortium for study.

This is a genome study or a DNA study. The goal is to find out what genes or genetic mutations are implicated in PSP and CBD. Some gene chip technology that became available in 2007 (out of the Human Genome Project) has made the study possible, along with the brain donations and some serious funding.

Recently, long-time CurePSP Forum moderator Ed Plowman described the study in this way:

“Each brain tissue sample had a computer chip assigned to it. The project is attempting to analyze what all PSP brains might have in common genetically that is different from non-PSP brains. As I understand it, hundreds of thousands of bits of data from each tissue sample are cataloged and the findings compared with all the other samples. It may be quite some time before the analysis is complete and findings released.”

Paul Freeman, the CurePSP Board’s Treasurer attended our most recent local support group meeting (September 2009), and sat with the PSP/CBD group. He indicated that four genetic mutations have been discovered as being culprits in PSP. (He didn’t say if these genes were also implicated in CBD.) He said that the researchers are going through the data again to confirm these findings, and then a paper will be written. This gets us a step closer to being able to do genetics testing and to find therapeutic interventions. It does seem like important progress along the way.