Translating Human Genetics into Novel Drug Targets

  • Karol EstradaEmail author
  • Alzheimer’s Disease Neuroimaging Initiative
Part of the Methods in Molecular Biology book series (MIMB, volume 1793)


The most important promise of the human genome sequencing project is the identification of the genetic cause of devastating human diseases and the subsequent deliver of novel drug therapies to treat these diseases with high unmet medical need. In the last 10 years we have successfully identified hundreds of genetic loci associated with many traits and diseases. The translation of these findings into novel therapies is not straightforward and poses challenges that are usually overlooked in traditional gene mapping. This chapter describes some of the most common challenges and opportunities to use human genetics to identify and validate novel drug targets.

Key words

Human genetics Drug targets Translation genomics 



Data collection and sharing for this project was funded by the Alzheimer’s Disease Neuroimaging Initiative (ADNI) (National Institutes of Health Grant U01 AG024904) and DOD ADNI (Department of Defense award number W81XWH-12-2-0012). ADNI is funded by the National Institute on Aging, the National Institute of Biomedical Imaging and Bioengineering, and through generous contributions from the following: AbbVie, Alzheimer’s Association; Alzheimer’s Drug Discovery Foundation; Araclon Biotech; BioClinica, Inc.; Biogen; Bristol-Myers Squibb Company; CereSpir, Inc.; Cogstate; Eisai Inc.; Elan Pharmaceuticals, Inc.; Eli Lilly and Company; EuroImmun; F. Hoffmann-La Roche Ltd. and its affiliated company Genentech, Inc.; Fujirebio; GE Healthcare; IXICO Ltd.; Janssen Alzheimer Immunotherapy Research & Development, LLC.; Johnson & Johnson Pharmaceutical Research & Development LLC.; Lumosity; Lundbeck; Merck & Co., Inc.; Meso Scale Diagnostics, LLC.; NeuroRx Research; Neurotrack Technologies; Novartis Pharmaceuticals Corporation; Pfizer Inc.; Piramal Imaging; Servier; Takeda Pharmaceutical Company; and Transition Therapeutics. The Canadian Institutes of Health Research is providing funds to support ADNI clinical sites in Canada. Private sector contributions are facilitated by the Foundation for the National Institutes of Health ( The grantee organization is the Northern California Institute for Research and Education, and the study is coordinated by the Alzheimer’s Therapeutic Research Institute at the University of Southern California. ADNI data are disseminated by the Laboratory for Neuro Imaging at the University of Southern California.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Karol Estrada
    • 1
    Email author
  • Alzheimer’s Disease Neuroimaging Initiative
  1. 1.Translational Genome Sciences, BiogenCambridgeUSA

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