# Core C: Human Biology Validation

> **NIH NIH U54** · MAYO CLINIC  JACKSONVILLE · 2020 · $213,624

## Abstract

PROJECT SUMMARY/ABSTRACT
Neurodegenerative tauopathies are among the most common causes of dementia and parkinsonism in middle
to late adult life. Diagnostic accuracy for tauopathies is reasonably good (over 75%) for some of these
disorders, such as progressive supranuclear palsy (PSP), but poor (<50%) for others, such as corticobasal
degeneration. Developing better biomarkers for these disorders would be useful for diagnosis, prognosis and future
clinical trials. The genetic, cell modeling and immunoassays proposed by investigators in this CWOW address these
important research objectives. The discovery of genetic variants that modulate risk and severity of tauopathy
could provide significant insight into disease pathogenesis, as well as illuminate key pathways to target for
potential therapeutics. Three genomic loci were reported in 2011 for the GWAS of PSP, including STX6,
EIF2AK3, and MOBP, but the mechanisms by which each polymorphism impact disease risk remain unknown.
Discovery of genetic factors that mediate sensitivity or resistance to tauopathy in Projects 1 and 2 will
potentially necessitate development of novel resources to elucidate how each gene is functionally linked to tau
deposition and toxicity in disease. Core C will generate new research tools to provide the Center with the
means to uncover the underlying mechanisms for risk of disease mediated by the genetic variants, as well as
identifying common pathways that potentially include multiple genetic modifiers and would thus represent ideal
pathways to target therapeutically. In this Center, Core C plays an essential role through its large collection of
pathologically-confirmed tauopathies and for provision of services to the research projects. In particular, we will
provide biologic material from human tauopathy brains, as well as assist with the neuropathologic
characterization and quantitation of tau burden in humans and mice. We will also validate the relationship
between tau pathology and key discoveries by project investigators. Finally, we will establish novel assays to
provide mechanistic insight into the link between genetic modifiers and disease.

## Key facts

- **NIH application ID:** 10012949
- **Project number:** 5U54NS100693-05
- **Recipient organization:** MAYO CLINIC  JACKSONVILLE
- **Principal Investigator:** DENNIS WILLIAM DICKSON
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $213,624
- **Award type:** 5
- **Project period:** 2016-09-30 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10012949

## Citation

> US National Institutes of Health, RePORTER application 10012949, Core C: Human Biology Validation (5U54NS100693-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10012949. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*