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Milestone 4.Q

AD Related Dementias – Specific

Develop better FTLD in vivo and cell-based model systems.

Success Criteria

  • Generate validated and standardized in vivo animal and cell-based models of TDP-43, FUS, GRN haploinsufficiency, and C9orf72 expansion disease, which recapitulate key biochemical, anatomical, neuropathological and functional aspects of FTD.
  • Develop and validate in vivo functional assays and neuropathological endpoints for mammalian models that are aligned with the anatomical sites affected in FTD.

Summary of Key Accomplishments

In addition to supporting the development of better FTD disease models through our standard grant mechanisms such as NS097273 which uncovered a potential mechanism contributing to neurodegeneration by the FTD-linked mutation in the C9ORF72 gene, the NIH also released a targeted call for applications in this area in 2019 (PAR-19-167).

Examples of funded awards from this program include the characterization of a non-human primate model found to have a spontaneous mutation identical to that found in people with FTD , the development of mouse models that more completely mimic human disease at the genetic level, and the development of "organs-on-a-chip" that put cells grown in the lab in more biologically-relevant conditions with the potential for informing future clinical trials. Future work is progressing to develop models that better inform on specific disease mechanisms, biomarker discovery, and therapeutic target identification in FTD, while model generation is also being expanded to include computational (i.e., big data) models.

This information is current as of July 2022.

Research Implementation Area
AD Related Dementias - Specific
In Progress

Accomplishments/Implementation Activities

Funding Initiatives

Research Programs and Resources

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