Laboratory for Genetic Epidemiology

Principal Investigator

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    • Chair, Department of Neurology
    • Director, Gertrude H. Sergievsky Center
    • Co-Director, Taub Institute for Research on Alzheimer's Disease and the Aging Brain
    • Director, Human Genetic Resources Core

The Laboratory for Genetic Epidemiology at Columbia University has been studying Alzheimer's disease (AD) across different ethnic populations for nearly 20 years. Led by accomplished clinician-scientist Dr. Richard Mayeux, the lab continues to play a leadership role in the National Institute on Aging Genetics Initiative. The NIA Family Study of Alzheimer's Disease, which includes approximately 1,500 families multiply affected by late-onset Alzheimer's disease (LOAD), is one of the most sought after cohorts for genetic studies in the world. In addition, Mayeux and his team direct the scientific community's largest family study of Caribbean Hispanics, which includes over 700 multiplex families affected by AD.

The lab is also actively engaged in a multinational effort, which previously identified genetic variants in the SORL1 as a putative genetic risk factor for Alzheimer's disease. In addition, as a senior investigator in the Alzheimer's Disease Genetics Consortium project, Dr. Mayeux and team continue to use genome-wide association (GWA) methods to identify AD genes and have begun whole exome sequencing and targeted sequencing studies.

Presently, the lab is focused on investigations of the both risk and protective variants for early-onset and late-onset AD. In addition, they conduct studies of environmental and medical risk factors, the genotypic variability of apolipoprotein-E risk among different ethnic groups, and the relationship between alterations in lipid metabolism and risk of dementia.

Lab Members

  • Richard Mayeux, MD, MSc, Director

    • Gertrude H. Sergievsky Professor of Neurology, Psychiatry and Epidemiology; Neurology Chair; Director, Gertrude H. Sergievsky Center; Co-director, Taub Institute for Research on Alzheimer's Disease and the Aging Brain

    My work and interests are in observational studies to identify environmental and genetic risk factors for age-related diseases such as Alzheimer’s disease.  The Washington Heights-Inwood Columbia Aging Project (WHICAP) has provided opportunities to compare rates of disease and the risk factors across three ethnic groups.  The Estudio Familiar de la Genética de la Enfermedad de Alzheimer (EFIGA) has focused on genetics of familial and sporadic Alzheimer’s disease among Caribbean Hispanics here and in the Dominican Republic.  The National Institute on Aging Late-Onset Family-Based Study has identified over 1,500 families in the United States that have been the focus of investigators throughout the world. We work closely with the Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Sequencing Project.  The next phase of our efforts includes biomarkers and functional genomics.

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  • Sandra Barral, PhD

    • Associate Professor of Neurogenetics

    My research integrates classical and innovative statistical approaches (i.e., linkage analysis, case-control analysis, genome-wide association analysis, whole exome/genome sequencing) to comprehensively characterize the genetic basis of normal aging and age-associated neurodegenerative diseases/disabilities. By conducting research on ethnically diverse family, population, and community-based cohorts, my research aims are to obtain a better understanding of the existing ethnic disparities in cognitive impairment and neurodegenerative disorders. I also serves as a statistical geneticist in a diverse number of large multicenter initiatives, including the Alzheimer’s Disease Sequencing Project, The Long-Life Family Study, and the NIA-LOAD Family Study, and the Alzheimer’s Disease Genetics Consortium, among others.

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  • Annie Lee, PhD

    • Instructor in Neurological Sciences

    I am a biostatistician interested in developing and applying data-driven approaches to understand neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease. I received my PhD in Biostatistics from Columbia University focusing on the development of statistical methods to estimate personalized, age-specific, genetic risk of neurodegenerative disease from each individual's unique biomarkers using family history data. My research has also focused on identifying genes and genetic variants associated with Alzheimer's disease. This includes leveraging multiomics data to understand Alzheimer’s disease and identify environmental and genetic risk factors for Alzheimer’s disease. 

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  • Joseph H. Lee, DrPH

    • Professor of Epidemiology

    My group studies the genetics of Alzheimer’s disease by focusing on cohorts with known genetic risk factors, including families with at least one person carrying a mutation in the PSEN1 gene; and adults with Down syndrome who carry three copies of the APP gene. These high-risk individuals display a surprisingly wide range of clinical expression. For example, the age at onset of AD can vary by more than two decades among family members who carry the same PSEN1 mutation. Similarly, some adults with Down syndrome can survive into their 70s without dementia. We ask how some individuals manage to escape AD into old age. To better understand the biological processes at the molecular level, we examine their genome along with biomarkers. In addition, we study the other extreme by studying families with multiple family members surviving to old age without major disease.

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  • Yiyi Ma, MD, MS, PhD

    • Instructor in Neurological Sciences

    With my statistical and quantitative training backgrounds, I have multiple years of research experience focused on the apolipoprotein (APOE) loci under the scope of both epigenetics and genetics. I was the first to report the DNA methylation patterns at APOE loci in human primary peripheral CD4+ T cells. Also, I have added some novel insights into the link between APOE and Alzheimer's disease. Using the genome-wide association approach, I have identified 22 novel loci contributing to the risk of AD dementia stratified by APOE ε4 genotypes based on the whole exome sequencing data of the Alzheimer's disease sequencing project. Through quantitative analysis of the DNA methylome and transcriptome of the primary human brain cortical tissues across multiple independent cohorts, I have found a potential factor to attenuate the risk effect of APOE ε4 on AD. 

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  • Christiane Reitz, MD, PhD

    • Associate Professor of Neurology and Epidemiology

    My research focuses on the identification of genetic factors associated with Alzheimer's disease in non-Hispanic White and minority populations through integration of a variety of epidemiological, clinical, and genomic methodologies. Working closely with the Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Sequencing Project, major current studies include large-scale sequencing projects of multiplex families and Singleton individuals of African ancestry with Alzheimer’s Disease, and ascertainment, sequencing, and genomic analysis of multiplex families and Singleton individuals affected by non-Mendelian early-onset Alzheimer’s disease.

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  • Giuseppe Tosto, MD, PhD

    • Assistant Professor of Neurology

    As a trained neurologist and neuroscientist, with broad expertise in both the clinical aspects and genetic epidemiology of Alzheimer's disease and other neurodegenerative disorders, the focus of my research is centered on understanding the heterogeneity of Alzheimer's disease from a phenotypic and genetic viewpoint. I use various genetic, epidemiological, and functional genomic approaches to identify sub-phenotypes and/or endophenotypes underlying AD with additional features, such as extrapyramidal signs and hallucinations.

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  • Badri Vardarajan, PhD, MS

    • Assistant Professor of Neurological Science

    I am a bioinformatician by training, and my primary interests are to understand the role of genetic variation in the biology of neurodegenerative diseases, in particular, Alzheimer’s disease. I have extensive experience in designing, implementing, and analyzing next generation sequencing studies. In parallel, I am also interested in implementing computational approaches to gene discovery in AD. My team is involved in several multi-institutional studies of genetics of AD including the Alzheimer’s Disease Sequencing Project and Collaboration on Alzheimer’s Disease Research. We are applying computational pipelines to characterize structural variation in large scale sequencing data for gene discovery in Alzheimer’s disease. I also lead multiomics integration of genetic, transcriptomic, proteomic, metabolomics data for gene and pathway discovery in multiple cohorts including the EFIGA (Caribbean-Hispanic families) and WHICAP (Washington Heights-Inwood Columbia Aging Project).

    Dr. Badri Vardarajan
  • Dolly Reyes-Dumeyer

    • Research Staff Associate

    I am the project manager and primary point of contact for all local, national, and international genetic research studies conducted in the Laboratory for Genetic Epidemiology.