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Milestone 6.I

AD Related Dementias – Specific

Expand efforts to genotype patients with FTD, identify new risk factor genes and epigenetic modifiers.


Success Criteria

  • Support efforts to genotype and perform genomic analyses on patients across the full spectrum of FTLD.

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.

This information is current as of July 2022.


Research Implementation Area
AD Related Dementias - Specific
Timeline
2016–2025
Status
In Progress

Accomplishments/Implementation Activities

Funding Initiatives

Research Programs and Resources

Relevant Recommendations

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