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FTD Basic Mechanisms: Understand role of genetic mutations

AD Related Dementias Focus

Please note: This milestone was incorporated into Milestone 2-N in 2019.

Determine the molecular basis for C9ORF72 expansion-and GRN mutation-related neurodegeneration.

2030 RFA-NS-18-015: Structural Biology of Alzheimer's Disease Related Dementias (ADRDs) Proteinopathies (U01) PAR-23-211: Mechanistic Investigations into ADRD Multiple Etiology Dementias (R01 - Clinical Trial Not Allowed) PAR-23-212: Investigating Distinct and Overlapping Mechanisms in TDP-43 Proteinopathies, including in LATE, FTD & other ADRDs (R01 - Clinical Trial Not Allowed) 2.O In Progress DN 2016 ADRD Summit: Frontotemporal Lobar Degeneration (FTD) Focus Area 1: Basic Science: Pathogenesis and Toxicity, Recommendation 2 Research on Disease Mechanisms Select projects in FY21 Select projects funded in FY22

Identification of predominant mechanism(s) of C9ORF72 and GRN mutation-related FTD/ALS pathogenesis, with convergent findings in human tissues and model systems.
Prioritization of targets to move forward into therapy development after testing therapeutic hypotheses in model systems.