ABCA7 frameshift deletion associated with Alzheimer disease in African Americans
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Article Information
- Received January 5, 2016
- Accepted in final form March 31, 2016
- First Published May 17, 2016.
Author Disclosures
- Holly N. Cukier, PhD*,
- Brian W. Kunkle, PhD, MPH*,
- Badri N. Vardarajan, PhD*,
- Sophie Rolati, MS,
- Kara L. Hamilton-Nelson, MPH,
- Martin A. Kohli, PhD,
- Patrice L. Whitehead, BS,
- Beth A. Dombroski, PhD,
- Derek Van Booven, BS,
- Rosalyn Lang, PhD,
- Derek M. Dykxhoorn, PhD,
- Lindsay A. Farrer, PhD,
- Michael L. Cuccaro, PhD,
- Jeffery M. Vance, MD, PhD,
- John R. Gilbert, PhD,
- Gary W. Beecham, PhD,
- Eden R. Martin, PhD,
- Regina M. Carney, MD,
- Richard Mayeux, MD, MSc,
- Gerard D. Schellenberg, PhD,
- Goldie S. Byrd, PhD,
- Jonathan L. Haines, PhD,
- Margaret A. Pericak-Vance, PhD;
- For the Alzheimer's Disease Genetics Consortium
- Holly N. Cukier, PhD*,
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(1) NARSAD Young Investigator Grant, The Brain & Behavior Research Foundation, 20662 (2) Hussman Foundation (3) Alzheimer's Association, BFG14322650
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- Brian W. Kunkle, PhD, MPH*,
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- Badri N. Vardarajan, PhD*,
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Commerical- Immuneering Corporation (Bioinformatics Consultant)
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- Sophie Rolati, MS,
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- Kara L. Hamilton-Nelson, MPH,
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NIH, U01AG032984, Data analyst, 2013-2015 NIH, R01AG042437, Data analyst, 2014-2015 NIH, UF1AG047133, Data analyst, 2014-2015 NIH, R01AG027944, Data analyst, 2011-2013 NIH, UO1AG032984, Data analyst, 2011-2013
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- Martin A. Kohli, PhD,
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- Patrice L. Whitehead, BS,
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- Beth A. Dombroski, PhD,
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- Derek Van Booven, BS,
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- Rosalyn Lang, PhD,
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Journal of Parkinson?s disease and Alzheimer's disease, Member Editorial Board, 2014 to Present
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- Derek M. Dykxhoorn, PhD,
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1) NIAID/NIH, 4R33AI088601-03, role: Principal Investigator, 2010-2016 2) NINDS/NIH, 2P50NS071674-02, role: Principal Investigator Core D, 2011-2016 3) NIAID/NIH, 5R01AI068804-06, role: Subcontract co-Investigator, 2012-2017 4) NIAID/NIH, 1U01AI103397 - 01, role: Co-Investigator, 2013-2018 5) NIA/NIH, 1R01AG041754-01A1, role: Co-Investigator, 2013-2018 6) DoD, W81XWH-12-1-0013, role: PI, 2011-2017
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- Lindsay A. Farrer, PhD,
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1. American Journal of Alzheimer's Disease & Other Dementias, editorial board, 1997-present 2. Clinical Genetics, editorial board, 1999-present
one patent pending for use of PLXNA4 as a drug target and biomarker for Alzheimer disease
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1. Novartis Pharmaceuticals, consultant, 2007-2010 2. Gerson Lerman, consultant, 2009-present 3. Guidepoint Global, 2009 - present
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NIH - R01-AG25259, PI, 2006-2112 NIH - U01-AG032984, SubK PI, 2009-present NIH - UF1-AG046198, PI of a multi PI grant, 2014-present NIH - R01-AG048927, PI, 2015-present
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Fidelity Foundation, research grant (PI), 2007-2011 Thome Memorial Foundation, research grant (PI), 2012-2014
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Finnegan & Associates, LLP, consultant, 2011
- Michael L. Cuccaro, PhD,
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Child Psychiatry & Human Development, editorial board, 2005-present
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- Jeffery M. Vance, MD, PhD,
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Served on a NIH grant's internal review for the University of Alaska, Fairbanks. Honoraria. NETPR, Department of Defense, review section.
American Journal of Neurodegenerative Diseases, editorial board, 2 year Neurology Genetics, Associate Editor, 1 year
1) method of detecting Charcot-Marie-Tooth disease type 2A 2) TRPC6 involved in glomerulonephritis 3) Methods for identifying an individual at increased risk of developing coronary artery disease
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NIH/NINDS 5P50NS071674 PI, 16y DOD/ W81XWH-14-1-0097 PI, 2y NIH/NINDS 1R25NS090624 PI, 2y
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Hussman Foundation
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Royalty, Duke University, 7y for CMT2A with Athena
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- John R. Gilbert, PhD,
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Glenview NGLG
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BFG14322650 Alzheimer Association
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- Gary W. Beecham, PhD,
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Dr. Beecham receives funding from the National Institutes of Health (R01HL102487, principal investigator; P50NS071674, co-investigator; 5454NS065712, co-investigator; R011NS075764, co-investigator; U01AG032984, co-investigator; R01AG027944, co-investigator) and the Department of Defense (W81XWH-14-1-0097, co-investigator).
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- Eden R. Martin, PhD,
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Frontiers in Statistical Genetics and Methodology, Associate Editor, Nov. 2010 - present
Invrntor, US Patenet No. 6697739 Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test
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- Regina M. Carney, MD,
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- Richard Mayeux, MD, MSc,
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RO1 AG037212 Epidemiology of Biomarkers of Risk and Progression in Late onset Alzheimer?s Disease. Principal Investigator RF1 AG015473 Genetic Studies of Alzheimer's Disease in Caribbean Hispanics. Principle Investigator
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- Gerard D. Schellenberg, PhD,
Alzheimer's Association Medical Advisory Board, Society of Progressive Supranuclear Palsy Scientific Advisory Board, Alzheimer Research Consortium Peebler PSP Research Foundation Medical and Scientific Advisory Committee - Alzheimer's Association External Scientific Advisory Board, United Kingdom Parkinson Disease Center, University College London Member, Steering Committee, Alzheimer?s Disease Sequence Project Co-chair, Structural Variant Work Group, Alzheimer?s Disease Sequence Project 2013-present External Advisory Committee, Mayo Clinic Rochester Udall center External Advisory Committee, University of Miami Udall Center Member, External Advisor ? Discovery Assessment Panel, Oxford Parkinson?s Disease Centre
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Alzheimer's Disease Center Directors Meeting - travel/lodging CurePSP International Research Symposium, travel/lodging Robert Katzman Memorial Lecture, University of California, San Diego, California Alzheimer?s Disease ? From Fundamental Insights to Light at the End of the Translational Tunnel, Keystone, Colorado 25th Annual Southern California Alzheimer?s Diseasem Research Conference, University of California Institute for Memory Impairment and Neurological Disorders, Costa Mesa, California CurePSP International Research Symposium, Baltimore, Maryland Biomarkers in Neuropsychiatric Disorders, Toronto, Canada Alzheimer?s Disease Sequence Project meeting, National Institutes of Health, Bethesda, Maryland Path to Treatment and Prevention, National Institutes of Health, Bethesda, Maryland Novartis Institutes for Biomedical Research, Inc., Novartis, Cambridge, Massachusetts McKnight Brain Institute, University of Florida, Gainesville, Florida Alzheimer?s Disease Center Directors Meeting, Washington, DC. NIA Scientific Retreat, National Institutes of Health, Bethesda, Maryland Keep Memory Alive Event Center, Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV Accelerated Medicines Program Alzheimer?s Disease F2F Target Discovery and Preclinical Validation Project Meeting. ?Alzheimer?s Disease Sequencing Project ? status?, NIA/FNIH/NIH, Bethesda, MD ?Genetics of PSP and Tauopathies?, PSP/Lewy Body Disease Think-Tank. Journey from Tau to Lewy bodies. McKnight Brain Institute, University of Florida, Gainesville, Florida ?ADGC Update, NIAGADS Update? Alzheimer?s Disease Center Directors Meeting, Washington, DC. ?Update on Alzheimer?s Disease Sequence Project?, 2015 NIA Scientific Retreat, National Institutes of Health, Bethesda, Maryland ?GWAS and ?Omics Implications for Combination Therapy,? Keep Memory Alive Event Center, Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV Accelerated Medicines Program Alzheimer?s Disease F2F Target Discovery and Preclinical Validation Project Meeting. ?Alzheimer?s Disease Sequencing Project ? status?, NIA/FNIH/NIH, Bethesda, MD American Association of Neuropathologists, ?Alzheimer?s Disease Genetics? Denver, CO. Fusion Conference, Personalized Medicine, ?Personalized Medicine and Neurodegenerative disorders. What does the future hold?? Tucson, AZ. CurePSP Symposium, ?Progressive supranuclear palsy genetics ? update?. La Jolla, CA Center for Public Health Genomics, Genome Sciences Seminar, University of Virginnia, ?Progress in Neurodegenerative Disease Genetics?, Charlottesville, VA. Neurology Grand Rounds, Columbia University, ?Genetics of Progressive supranuclear palsy and corticobasal degeneration?, New York, NY.
Advisory Board for the Dementia Section, Journal of Neural Transmission Editorial Board, Alzheimer's Research Editorial Board, American Journal of Alzheimer?s Disease and other Dementias. Editorial Board, Neurodegenerative Diseases Editorial Board, Current Alzheimer Research Editorial Board - Pathology and Laboratory Medicine International
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Professor - University of Pennsylvania
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NIA/NIH
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CurePSP CBD Solutions
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- Goldie S. Byrd, PhD,
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- Jonathan L. Haines, PhD,
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1). Novartis Vision Research day, travel reimbursement
1). Neurogenetics, editorial board member, 2006-present 2). Current Protocols in Human Genetics, editorial board member, 1993-present 3). Human Molecular Genetics, editorial board member 2014-present
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1). Current protocols in Human Genetics, John Wiley & Sons, 1994-present
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2014/06/15-2018/05/31 UF1AG047133, NIH/NIA Consortium for Alzheimer?s Sequence Analysis (CASA) The goal of the CASA grant is to analyze and interpret genotyping and sequencing data from a large dataset of Alzheimer cases, controls, and families Role: KP (PI) 2013/02/01-2018/01/31 R01EY023164, NIH/NEI Stambolian (U. Penn) (PI) Genetic Epidemiology of Age-Related Macular Degeneration in the Old Order Amish The goal of this project is to understand the genetic architecture of AMD phenotypes in the Amish Role: KP (PI of subcontract) 2011/09/01-2016/08/31 R01EY020928, NIH/NEI Wiggs (Mass. Eye & Ear) (PI) Genetic and Environmental Risk Factors for Exfoliation Syndrome and Glaucoma The goal of this project is to generate GWAS data on glaucoma patients and examine the results for both gene and gene environment effects. Role: KP (PI of subcontract) 2000/06/15-2016/07/31 R01EY012118, NIH/NEI Haines, Jonathan L. (PI) Genomic Architecture of Progression and Treatment Response in AMD The goal of this project is to dissect the genetic etiology of Macular Degeneration Role: PI 2012/04/01-2016/03/31 R01EY022310, NIH/NEI Haines, Jonathan L. (PI) Advancing Genetics through the AMD Gene Consortium The goal of this project is to combine data and results from multiple different investigators to further understand the genetic architecture of age-related macular degeneration Role: PI 2012/08/01-2019/07/31 R01EY022305, NIH/NEI Wiggs (Mass. Eye & Ear) (PI) The NEIGHBORHOOD: POAG Heritable Overall Operational Database The goal of this project is to combine data and results from multiple different investigators to further understand the genetic architecture of Primary Open Angle Glaucoma. Role: KP (PI of subcontract)
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1. Use of APOE in clinical diagnostics, Athena diagnostics
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- Margaret A. Pericak-Vance, PhD;
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- For the Alzheimer's Disease Genetics Consortium
- From the John P. Hussman Institute for Human Genomics (H.N.C., B.W.K., S.R., K.L.H.-N., M.A.K., P.L.W., D.V.B., D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., J.M.V., M.A.P.-V.), Dr. John T. Macdonald Foundation Department of Human Genetics (D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C.), Miller School of Medicine, University of Miami, FL; The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (B.N.V., R.M.), Gertrude H. Sergievsky Center, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY; Department of Pathology and Laboratory Medicine (B.A.D., G.D.S.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Department of Biology (R.L., G.S.B., M.A.P.-V.), North Carolina A&T State University, Greensboro, NC; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, MA; and Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH.
- Correspondence to Dr. Pericak-Vance: mpericak{at}med.miami.edu
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