15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN

The Dominantly Inherited Alzheimer Network Observational Study (DIAN Obs) is a longitudinal, global cohort study investigating brain aging and autosomal dominant Alzheimer's disease (ADAD), a rare monogenic form of Alzheimer's disease (AD). Established in 2008 with support from the National Institute on Aging (NIA), DIAN Obs is designed to collect comprehensive and uniform data with the aim to characterize brain biology and clinical trajectory of individuals at risk for ADAD. Mutations in the amyloid protein precursor (<i>APP</i>), presenilin 1 (<i>PSEN1</i>), or presenilin 2 (<i>PSEN2</i>) genes cause ADAD with virtually full penetrance and a predictable age at symptomatic onset. Participants, both mutation carriers and non-carriers from affected families, undergo longitudinal clinical and cognitive assessments, neurologic and physical examinations, structural and functional neuro-imaging, and amyloid and tau positron emission tomography (PET). Biospecimens include cerebrospinal fluid, plasma, serum, and whole blood for biochemical, genetic and multi-omic analyses, with brain donation upon death. This dataset enables one of the most detailed longitudinal examinations of the human brain across the continuum from presymptomatic to symptomatic AD. The extensive DIAN Obs data and biospecimen repository provides a globally accessible resource to advance understanding of AD pathophysiology, aging, and the development of preventive and therapeutic interventions.

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Publication Details

Journal
npj Dementia
Published
2026-02-16
DOI
https://doi.org/10.1038/s44400-025-00047-7
Primary Topic
Alzheimer's disease research and treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN

James M. Noble, Jalen Scott, Yudy Milena, Tárraga et al.
npj Dementia
Alzheimer's disease research and treatments
article

15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN

James M. Noble, Jalen Scott, Yudy Milena, Tárraga, Ezequiel Surace, Elizabeth Herries, Jacob Bechara, Ruijin Lu, Deborah Koudelis, Elke Kuder-Buletta, Matthew Minton, J. Xu, DO Eric McDade, Jacqueline Rizzo, Edward D Huey, 新美 芳樹, Gina Jerome, Salvador M. Guinjoan, Anna Hofmann, J O' Sullivan, Xiong Xu, Jennifer Stauber, Allison Chen, Ana Luisa Sosa, David M Cash, Sarah J. Keefe, Sarah B Berman, Silvia Vazquez, Jae-Hong Lee, Alisha Daniels, J Chhatwal, Guoqiao Wang, Danielle M. Picarello, Laura Ramirez, Ralph Martins, Yan Li, Takeshi Ikeuchi, Gregory S. Day, Sarah Stout, Nicole McKay, Russ Hornbeck, Jason Hassenstab, Colin Masters, Kensaku Kasuga, Hiroshi Mori, Carlos Cruchaga, Shaney Flores, Yvonne Roedenbeck, Charles Chen, Pedro Rosa-Neto, Qing Wang, Chengjie Xiong, Richard J. Perrin, John C. Morris, Francisco Lopera, Randall J. Bateman, Virginia Buckles, Johannes Levin, David Aguillon, Mathias Jucker, Nick C. Fox, Brian A. Gordon, Alison Goate, Martin R. Farlow, Christoph Laske, Jee Hoon Roh, Susanne Graber-Sultan, William S. Brooks, Erin Franklin, Patricio Chrem, Leonel Takada, Tammie L. S. Benzinger, Allan Levey, Nelly Joseph-Mathurin, Laura Ibanez, Alan E. Renton, Jorge J. Llibre-Guerra, Neelesh K. Nadkarni, Snezana Ikonomovic, Jacob Marsh, Bryce Baker, Kelley Jackson, Nicolas Barthelemy, Erik C. B. Johnson, Peter R. Schofield, Anne M. Fagan, David M. Holtzman, Edita Sabaredzovic, Steve Jarman, Charlene Supnet-Bell, Stephen Salloway, Raquel Sánchez-Valle, Nicholas T. Seyfried, Andrew J. Aschenbrenner, Neill R. Graff-Radford, Parinaz Massoumzadeh, the Dominantly Inherited Alzheimer Network, Hunter Smith
article en

Abstract

The Dominantly Inherited Alzheimer Network Observational Study (DIAN Obs) is a longitudinal, global cohort study investigating brain aging and autosomal dominant Alzheimer's disease (ADAD), a rare monogenic form of Alzheimer's disease (AD). Established in 2008 with support from the National Institute on Aging (NIA), DIAN Obs is designed to collect comprehensive and uniform data with the aim to characterize brain biology and clinical trajectory of individuals at risk for ADAD. Mutations in the amyloid protein precursor (<i>APP</i>), presenilin 1 (<i>PSEN1</i>), or presenilin 2 (<i>PSEN2</i>) genes cause ADAD with virtually full penetrance and a predictable age at symptomatic onset. Participants, both mutation carriers and non-carriers from affected families, undergo longitudinal clinical and cognitive assessments, neurologic and physical examinations, structural and functional neuro-imaging, and amyloid and tau positron emission tomography (PET). Biospecimens include cerebrospinal fluid, plasma, serum, and whole blood for biochemical, genetic and multi-omic analyses, with brain donation upon death. This dataset enables one of the most detailed longitudinal examinations of the human brain across the continuum from presymptomatic to symptomatic AD. The extensive DIAN Obs data and biospecimen repository provides a globally accessible resource to advance understanding of AD pathophysiology, aging, and the development of preventive and therapeutic interventions.

npj DementiaVol. 2(1)
University of Southern California (US), Edith Cowan University (AU), Brigham and Women's Hospital (US), Emory University (US), The University of Melbourne (AU), University of Pittsburgh (US), Washington University in St. Louis (US), Florey Institute of Neuroscience and Mental Health (AU), Columbia University Irving Medical Center (US), Korea University Medical Center (KR), German Center for Neurodegenerative Diseases (DE), Jacksonville College (US), Asan Medical Center (KR), Butler Hospital (US), Osaka City University (JP), UNSW Sydney (AU), Universidad de Antioquia (CO), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (AR), Alzheimer’s Disease Neuroimaging Initiative (US), University of Tokyo Hospital (JP), Hospital Clínic de Barcelona (ES), UK Dementia Research Institute (GB), Mayo Clinic in Florida (US), Instituto Nacional de Neurología y Neurocirugía (MX), Fundação Faculdade de Medicina (BR), Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES), Indiana University School of Medicine, University College London (GB), McGill University (CA), Indiana University – Purdue University Indianapolis (US), Niigata University (JP), Universitat de Barcelona (ES), Ludwig-Maximilians-Universität München (DE), Icahn School of Medicine at Mount Sinai (US)
Michael J. Fox Foundation for Parkinson's Research, Alzheimer's Association, Eli Lilly and Company, Biogen, Japan Agency for Medical Research and Development, GHR Foundation, Alzheimer's Society, National Institute for Health and Care Research, Rosetrees Trust, Korea Health Industry Development Institute, Eisai, Deutsches Zentrum für Neurodegenerative Erkrankungen, University College London Hospitals NHS Foundation Trust, H. Lundbeck A/S, Ministry of Science and ICT, South Korea, Fleni, UK Dementia Research Institute, National Institutes of Health, Genentech, Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University in St. Louis, Medical Research Council, National Health and Medical Research Council, Instituto de Salud Carlos III, National Institute on Aging
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Alzheimer's disease research and treatments
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