Mayeux Lab
Principal Investigator: Richard P Mayeux
Institution: Columbia University (New York, NY)
Primary Subfield: Genetics/Genomics
Recruitment Status: Inquire for rotation/fellowship opportunities
Research Focus
CORE B SUMMARY The overarching hypothesis of this PPG is that insights into SORL1-Retromer biology can be used to investigate pathogenicity of specific SORL1 variants. Genetic variants in SORL1 that are predicted risk- increasing or even causative for Alzheimer Disease (AD) are observed in ~2.75% of all unrelated early onset AD cases and 1.5% of unrelated late onset AD cases. In comparison, pathogenic variants in PSEN1, PSEN2 and APP combined explain <<1% of all AD cases. Truncating genetic variants in SORL1 are observed almost exclusively in AD cases. However, the large majority of SORL1 variants are missense variants, which have varying effects: some variants may be causative for AD, others associate with a strongly increased risk, yet others are associated with only moderately increased risk and many are benign. In medical genetics, estimating the penetrance of each variant is vital for the correct interpretation of genetic test results. However, the estimation of SORL1-variant penetrance using classical segregation analysis is complicated because pedigrees of variant carriers are unavailable or too small. Moreover, approaching members of affected families is difficult due to pr…
Active NIH Awards
- 5P01AG090268-02: SORL1 and its involvement in Alzheimer's disease pathogenesis and pathophysiology - Genetics Core (2026)
- 5U24AG056270-10: National Institute on Aging Alzheimer's Disease Family-Based Study (NIA-AD FBS) (2026)
- 1P01AG090268-01A1: SORL1 and its involvement in Alzheimer's disease pathogenesis and pathophysiology - Genetics Core (2025)
- 1R21NS139338-01A1: Development of a Genetic Testing and Counseling for Pantothenate Kinase Associated Neurodegeneration in the Dominican Republic (2025)
- 5R01AG072474-05: Epidemiological and Genetic Investigations of Blood-Based Biomarkers for Alzheimer's Disease in the Multiethnic, Washington Heights, Inwood, Columbia Aging Project (WHICAP) (2025)
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