The NIA-LOAD FBS is led by renowned investigators in the field of LOAD and AD genetics, including:
Columbia University; Dr. Richard Mayeux, the senior principal investigator (PI), is a neurologist and genetic epidemiologist who brings clinical expertise to this project. He has assembled multiple, diverse cohorts for the study of LOAD including the Washington Heights-Inwood Columbia Aging Project (WHICAP), a collection of families multiply affected by LOAD from the Dominican Republic, and the NIA LOAD FBS cohort. Dr. Mayeux has been involved in numerous studies that included the NIA LOAD cohort and has a particular interest in the genetics of LOAD among African Americans and Hispanics. He reviews all projects that include the NIA LOAD FBS dataset (for which he is notified), reviews all pedigrees for inclusion and frequently reviews pedigrees for expansion, and leads the monthly call for the PIs and the genetic analyses.
Indiana University; Dr. Tatiana Foroud, a co-PI, is a statistical geneticist and PI of the National Cell Repository for Alzheimer Disease (NCRAD), which serves as an NIA cooperative agreement (U24) banking biospecimens resource for dementia-related studies. She is also the PI of the NINDS U24 for biospecimen banking in Parkinson disease, Huntington disease, and frontotemporal dementia. Dr. Foroud has served as the NIA-LOAD FBS site investigator at Indiana University, which has recruited and longitudinally assessed LOAD families and controls. She has been involved in numerous studies involving the NIA-LOAD FBS cohort. Indiana University will continue to coordinate biospecimen collection and will train all sites in the collection of samples.
Icahn School of Medicine at Mount Sinai (ISMMS); Dr. Alison Goate, a co-PI, is a molecular geneticist who has studied AD genetics since 1987, identifying mutations in all of the known AD genes (APP, PSEN1, PSEN2), as well as several risk factors genes for LOAD. She plays a lead role in many AD genetics consortia including ADGC, GERAD, NIA-LOAD FBS, DIAN and ADSP. She has played an active role in the recruitment of families for NIA-LOAD FBS since its inception in 2003. She is currently the PI of several gene discovery projects for follow-up of GWAS findings and generation of WES/WGS data in NIA-LOAD FBS families. She is the director of the Ronald M. Loeb Center for Alzheimer’s disease and Neurodegeneration and core leader for the Genomics Core of the ISMMS Alzheimer’s Disease Research Center. In NIA-LOAD FBS, she leads a genomics core to coordinate the generation and analysis of genomic data for external investigators and for the group of investigators mentioned below.
Mayo Clinic; Dr. Brad Boeve is a behavioral neurologist who has an interest in Alzheimer’s disease, as well as non-AD dementias. He is the co-PI of the Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) protocol and co-director of the Clinical Core of the Mayo ADRC. Dr. Boeve has served as the site-PI for the NIA-LOAD FBS at Mayo Clinic Rochester since its inception, through which greater than 500 persons have been recruited. He has been involved in numerous studies involving LOAD, early onset AD, and other familial neurodegenerative disorders. He will direct the efforts between Rochester and Jacksonville Mayo Clinic programs.
Rush University Medical Center; Dr. David Bennett, director of the Rush Alzheimer’s Disease Center (RADC), is a neurologist with considerable expertise in the conduct of community-based clinical-pathologic cohort studies that incorporate multilevel omics data. In addition to the two studies he leads, the Religious Orders Study and the Rush Memory and Aging Project, his team at the RADC leads four additional community-based cohort studies of aging and dementia in diverse communities, two cohorts of African Americans, one of Latinos, and one biracial study of HIV and aging. Dr. Bennett has been the site-PI with NIA-LOAD FBS since its inception. His group designed the cognitive battery, has been responsible for training and certification of staff at all participating sites, and conducts quality control of the cognitive data. Dr. Bennett will continue leading the cognitive assessments, and investigators at the RADC will oversee the post-mortem data collection.
University of Texas Southwestern Medical Center (UTSWMC); Dr. Roger N. Rosenberg is the senior neurologist and has been the PI of the UTSWMC ADRC since 2003. He has a strong interest in the function of genes and gene pathways as they relate to LOAD. He has been the site-PI with the NIA-LOAD FBS since 2003 and will continue to lead the UTSW NIA-LOAD FBS site.
University of Miami (UM); Dr. Margaret Pericak-Vance is a genetic epidemiologist who has spent much of her career studying the genetic causes of AD. Her laboratory identified the role of APOE in AD susceptibility and was the first to report the dose effect associated with the APOE e4 allele in LOAD. She currently leads the analysis efforts of the ADGC and is also a PI, with Drs. Haines and Mayeux, of the NIA-funded grant to analyze WES/WGS in LOAD. She has been involved in the recruit of African American LOAD families for many years. She will be the PI of the new UM NIA-LOAD FBS site that will focus on the recruitment of ethnically diverse LOAD families, specifically African Americans and Hispanics.
University of Pittsburgh; Dr. Robert Sweet is a geriatric psychiatrist and director of the Clinical Core of the University of Pittsburgh ADRC. He has expertise in the recruitment and diagnosis of LOAD, with particular expertise in the characterization of psychosis and other behavioral disturbances in LOAD patients. He has longstanding NIA-funding as the PI of genetic studies of psychosis risk in LOAD, and has been the site-PI in the NIA-LOAD FBS since its inception. Dr. Sweet’s team has been responsible for the design of the psychosis assessments in the NIA-LOAD FBS, and has overseen training and establishment of inter-rater reliability of staff performing these assessments at all sites. Dr. Sweet and his team continue in these roles currently, and serve as a site for the collection and characterization of NIA-LOAD FBS.
University of Washington (UW); Dr. Debby Tsuang is director of the Geriatric Research, Education, and Clinical Center at the VA Puget Sound Health Care System and a member of the UW ADRC. Dr. Tsuang is the site-PI, and is a co-investigator on numerous NIA-funded genetic studies of AD and LOAD. Dr. Tsuang and her colleagues at the UW have helped characterize the genetic and phenotypic differences between LOAD, Parkinson’s disease, and dementia with Lewy bodies by clarifying the role of APOE e4, GBA, LRKK2, SNCA, and MAPT mutations in these diseases. She works closely with Dr. Thomas Bird, a pioneer in the genetic study of familial LOAD, who was the previous site PI.
Washington University in St Louis; Dr. Carlos Cruchaga is a molecular geneticist with expertise in human genetics, and he leads a sequencing project focused on the identification of novel genes with large effect size for LOAD risk. This study is enriched with many subjects from the NIA-LOAD FBS study. Dr. Cruchago is also funded to analyze ADSP data for new AD gene discovery. Dr. Cruchaga has pioneered the use of next-generation sequencing technology to identify novel functional variants implicated in LOAD (3-5, 24, 25). Dr. Cruchaga completed postdoctoral training with Dr. Alison Goate (2009-2012). He has worked on genetic analysis of NIA-LOAD FBS since his postdoctoral research and became the Washington University site-PI for this project when Dr. Goate moved to New York in 2015.