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AD-Related Dementias Focus
Define genetic and molecular modifiers of FTD (including in diverse populations).
2031 RFA-NS-17-017: Frontotemporal Degeneration (FTD) Sequencing Consortium: Discovery, Replication and Validation (UG3/UH3) RFA-NS-21-003: Center without Walls for Mechanisms of Neurodegeneration in Frontotemporal Dementia (FTD) (U54 Clinical Trial Not Allowed) PAR-24-270: ADRD Risk and Disease Following Nervous System Exposures at Biological Interfaces with the Environment (R01 - Clinical Trial Not Allowed) 6.I In Progress Expand efforts to genotype patients with FTD and identify new genes and their functional relationship to FTLD pathogenesis. DN 2016 ADRD Summit: Frontotemporal Lobar Degeneration (FTD) Focus Area 2: Clinical science, Recommendation 1 2019 ADRD Summit: Frontotemporal Lobar Degeneration (FTD) Focus Area 2: Clinical science, Recommendation 7 2022 ADRD Summit: Frontotemporal Lobar Degeneration (FTD) Milestone 8, Priority 4 NINDS Press release: NIH researchers link cases of ALS and FTD to a mutation associated with Huntington’s disease Workshop: Genetic Modifiers: Lessons from Nervous System Disorders Drug Development - Novel Targets Frontotemporal Degeneration (FTD) Sequencing Consortium: Discovery, Replication and Validation NIAGADS ALLFTD Select projects funded in FY21 Select projects funded in FY22
- At least two studies to genotype and perform genomic analysis on patients, including in diverse populations, across the full spectrum of FTD diagnoses; at least one study must include a sporadic FTD cohort.
- At least one study on how genetic background and environment are linked to patient clinico-pathological syndrome and disease progression.
Summary of Key Accomplishments
NIH has supported at least three focused efforts conducting genomic analyses of individuals across the full spectrum of FTD. In 2017, the NINDS supported the FTD Sequencing Consortium (RFA-NS-17-017), which supported two consortia conducting genomic analyses of people with FTD. Findings from this consortia have included the discovery of mutations that contribute to disease risk as well as the discovery and characterization of how other variants within the genome modify the presentation of FTD. The ALLFTD study also includes a genetics core building upon this work. At present, the most common genetic contributions to FTD have likely been identified, with remaining work focused on more rare causative mutations and better understanding how the activity or variations of other genes contribute to FTD progression and/or severity.
The key accomplishments summary is current as of July 2022.