Genetics Program

Charles D. Peebler, Jr. PSP & CBD Genetics Program

As the Baby-Boom generation ages, the number of people with brain disease will increase substantially. This will include progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) as well as Parkinson’s disease, Alzheimer’s disease, and other related disorders. Both PSP and CBD are devastating neurodegenerative diseases that ultimately prove fatal. Although it is very rare for either disease to be found in more than one member of any family, an abnormal gene has been found that contributes to the cause of both. To develop methods for prevention and therapy, it is essential to understand the full genetic component of these diseases. This is now possible.

The Charles D. Peebler, Jr. PSP & CBD Genetics Program is a multi-year venture sponsored and supported by CurePSP (The Foundation for PSP | CBD & Related Diseases). 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. The program will proceed through four phases:

Phase 1: Perform the whole-genome analysis to identify incriminated intervals in the genome and candidate genes within them.
Phase 2: Sequence candidate genes identified in Phase 1 and compare with controls to identify specific genes necessary to cause PSP and CBD.
Phase 3: Characterize the biochemical pathways controlled by the genes identified in Phase 2.
Phase 4: Develop ways to correct or shutdown biochemical pathways identified in Phase 3, thereby potentially providing ways to prevent, slow or cure PSP and CBD.

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.

Findings from the whole-genome analysis (stage 1) appear in the June 2011 issue of Nature Genetics.