Nilufer Ertekin-Taner, M.D., Ph.D.

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SUMMARY

Nilufer Ertekin-Taner, M.D., Ph.D., is a neurogeneticist focused on the complex genetics of Alzheimer's disease (AD) and other neurodegenerative diseases. She is also a practicing board-certified neurologist with subspecialty training in behavioral neurology.

Dr. Ertekin-Taner's laboratory aims to discover and characterize the genetic factors that influence the risk of AD and other neurodegenerative diseases, such as progressive supranuclear palsy (PSP), through the use of combined genomic, transcriptomic and epigenetic approaches. Further, her laboratory utilizes biological traits such as cognition to study the downstream effects of genetic factors. Identification of genetic risk factors for AD in African-Americans and atypical forms of AD are additional ongoing projects in the laboratory.

Focus areas

The overall focus areas in Dr. Ertekin-Taner's laboratory fall in two main categories: genetics of gene expression in AD and PSP, and mapping and functional characterization of AD risk factors. Some of the ongoing projects in these areas are as follows:

• Genetics of gene expression in AD and PSP.
  • Comparative gene expression studies in AD and other conditions. Dr. Ertekin-Taner's laboratory uses gene expression measurements in the brain samples of people with AD or other neurodegenerative diseases to uncover novel genes and pathways implicated in the pathophysiology of AD. Her laboratory also studies genetics of gene expression in blood samples from prospective cohorts to identify gene expression signatures that may predict cognitive decline and development of AD.
  • Gene expression studies in progressive supranuclear palsy. Dr. Ertekin-Taner's laboratory, in collaboration with Mayo Clinic's brain bank, directed by Dennis W. Dickson, M.D., utilizes gene expression levels from brains of people with PSP to identify genetic variants that influence disease risk and pathology via regulating transcription.
  • Methylome analysis. Using CpG methylation levels, Dr. Ertekin-Taner studies the influence of epigenetic factors on gene expression in AD and PSP.
• Mapping and functional characterization of novel Alzheimer's disease risk genes and alleles.
  • Functional studies in AD candidate genes. Dr. Ertekin-Taner's laboratory aims to understand the functional consequences of coding variants as well as modifications in expression levels of genes and specific isoforms implicated in AD. The lab is currently utilizing gene expression, immunohistochemistry and animal behavior approaches to understand the functional consequences of such genetic modifications in candidate genes, such as CTNNA3 and LRRTM3.
  • Late-onset Alzheimer's disease risk variants in memory decline, incident mild cognitive impairment and AD. Dr. Ertekin-Taner's laboratory utilizes cognitive and disease status data to determine the influence of AD genetic risk variants on cognitive decline and incident disease.

Significance to patient care

Dr. Ertekin-Taner's ultimate research goal is to shed light on the details of the underlying pathophysiology of Alzheimer's and other neurodegenerative diseases, and to potentially provide therapeutic targets. Her studies on the genetics of AD are likely to lead to a better understanding of the disease and may reveal novel pathways that influence this common, complex disease.

Professional highlights

• Research chair, Department of Neuroscience, Mayo Clinic, 2023-present.
• Principal Investigator and Director, KL2 Mentored Career Development Program, Center for Clinical and Translational Sciences (CCaTS), Mayo Clinic, 2023-present.
• Principal investigator, Florida Consortium for African-American Alzheimer's Disease Studies, 2017-present.
• Principal investigator, Molecular Mechanisms of the Vascular Etiology of Alzheimer's Disease Consortium, 2015-present.
• Principal investigator, Accelerating Medicines Partnership Alzheimer's Disease Consortium, 2013-present.
• Investigator of the Year Award, Mayo Clinic, Jacksonville, Florida, 2018.
• Health Care Hero, Jacksonville Business Journal, 2008 and 2018.
• Scholar, KL2 Mentored Career Development Program, CCaTS, Mayo Clinic, 2008-2011.