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Neurophenotypes

Advancing Psychiatry and Neuropsychology in the "OMICS" Era

  • Critically appraises clinical neuroscience research at the intersection of genomics, phenomics, and other ‘omics’ disciplines.
  • Explores neurophenotypes as operational constructs of brain-behavioral domains that facilitate brain-behavioral alignment in genome-to-phenome mapping and systems neuroscience.
  • Topics include brain and cognition in the omics era; phenomics, connectomics, and Research Domain Criteria; circuit-based neurophenotypes; legacy of the endophenotype concept; and discussions of various potential neurophenotypes of relevance to clinical neuroscience; and much more.
  • Includes supplementary material: sn.pub/extras

Part of the book series: Innovations in Cognitive Neuroscience (Innovations Cogn.Neuroscience)

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Table of contents (16 chapters)

  1. Front Matter

    Pages i-xvii
  2. Research and Conceptual Developments

    1. Front Matter

      Pages 1-1
    2. Introduction and Structure of the Volume

      • Vinoth Jagaroo, Susan L. Santangelo
      Pages 3-13
    3. Brain and Cognition in the “Omics” Era

      • Susan L. Santangelo, Vinoth Jagaroo
      Pages 15-36
    4. Appraising Circuit-Centered Neurophenotypes

      • Vinoth Jagaroo, William Bosl, Susan L. Santangelo
      Pages 37-57
  3. The Endophenotype Concept

    1. Front Matter

      Pages 59-59
    2. Cognitive Phenotypes and Endophenotypes: Concepts and Criteria

      • Carrie E. Bearden, Anderson Winkler, Katherine H. Karlsgodt, Robert Bilder
      Pages 61-80
    3. The Strategy and Utility of the Endophenotype Approach to Neurobehavioral Function

      • Ellen Quillen, David Glahn, Laura Almasy
      Pages 81-102
  4. Cognitive and Neural Systems

    1. Front Matter

      Pages 121-121
    2. Response Inhibition

      • Kei Mochizuki, Shintaro Funahashi
      Pages 123-137
    3. Fear Conditioning and Extinction

      • Bronwyn M. Graham, Mohammed R. Milad
      Pages 139-155
    4. Reward Dependence and Reward Deficiency

      • Marlene Oscar-Berman, Kenneth Blum
      Pages 193-211
    5. Face Perception

      • Jennifer Richler, Isabel Gauthier
      Pages 213-225
    6. Language Phenotypes

      • Mabel Rice, Helen Tager-Flusberg
      Pages 227-243
    7. EEG-Derived Neurophenotypes

      • William Bosl
      Pages 263-282
    8. Conclusion: Implications for Psychiatry and Neuropsychology

      • Susan L. Santangelo, Vinoth Jagaroo
      Pages 283-296
  5. Erratum to: Neurophenotypes

    • Vinoth Jagaroo, Susan L. Santangelo
    Pages E1-E1

About this book

The interest in ‘biomarkers’ seen across a spectrum of biomedical disciplines reflects the rise of molecular biology and genetics.  A host of ‘omics’ disciplines in addition to genomics, marked by multidimensional data and complex analyses, and enabled by bioinformatics, have pushed the trajectory of biomarker development even further.  They have also made more tractable the complex mappings of genotypes to phenotypes – genome-to-phenome mapping – to which the concept of a biomarker is central.

Genomic investigations of the brain are beginning to reveal spectacular associations between genes and neural systems.  Neural and cognitive phenomics are considered a necessary complement to genomics of the brain.  Other major omics developments such as connectomics, the comprehensive mapping of neurons and neural networks, are heralding brain maps of unprecedented detail.  Such developments are defining a new era of brain science.  And in this new research environment, neural systems and cognitive operations are pressed for new kinds of definitions – that facilitate brain-behavioral alignment in an omics operating environment. 

This volume explores the topic of markers framed around the constructs of cognitive and neural systems.  ‘Neurophenotype’ is a term adopted to describe a neural or cognitive marker that can be scientifically described within an associative framework – and while the genome-to-phenome framework is the most recognized of these, epigenetics and non-gene-regulated neural dynamics also suggest other frameworks.  In either case, the term neurophenotype defines operational constructs of brain-behavioral domains that serve the integration of these domains with neuroscientific and omics models of the brain.  The topic is critically important to psychiatry and neuropsychology:  Neurophenotypes offer a ‘format’ and a ‘language’ by which psychiatry and neuropsychology can be in step with the brain sciences.  They also bring a new challenge to the clinical neurosciences in terms of construct validation and refinement.

Topics covered in the volume include:

  • Brain and cognition in the omics era
  • Phenomics, connectomics, and Research Domain Criteria
  • Circuit-based neurophenotypes, and complications posed by non-gene regulated factors
  • The legacy of the endophenotype concept – its utility and limitations
  • Various potential neurophenotypes of relevance to clinical neuroscience, including Response
  • Inhibition, Fear Conditioning and Extinction, Error Processing, Reward Dependence and  Reward Deficiency, Face Perception, and Language Phenotypes
  • Dynamic (electrophysiological) and computational neurophenotypes
  • The challenge of a cultural shift for psychiatry and neuropsychology 

The volume may be especially relevant to researchers and clinical practitioners in psychiatry and neuropsychology and to cognitive neuroscientists interested in the intersection of neuroscience with genomics, phenomics and other omics disciplines.

Editors and Affiliations

  • Communication science & Disorders/Behavioral Neuroscience , Emerson College; Boston University school of Medicine, BOSTON, USA

    Vinoth Jagaroo

  • Marine medical centre and Marine Medical Research, Chan School of Public Health , Tufts University School of medicine and Harvard TH, BOSTON, USA

    Susan L. Santangelo

About the editors

Susan Santangelo, Sc.D. is associate professor at the Harvard Medical School (Psychiatry) and the Harvard School of Pulbic Health (Epidemiology), where she has been a faculty member since 1994. She is Director of Statistical Genetics and Genetic Epidemiology in the Psychiatric and Neurodevelopmental Gentics Unit within the Center for Human Genetic Research at Massachusetts General Hospital. Her work is focused on the gene finding and phenotype delineation for a number of psychiatric disorders, particularly autism and schizophrena. As a nationally and internationally recognized expoert on the genetics of autism, Dr. Santangelo has served as an ad hoc member of the Scienctific Advisory Board for the National Alliance for Autism Research (NAAR) since 1999 and continues in that role for Autism Speaks since its merger with NAAR. She serves on the steering committee of the Autism Consortium and on the editorial boards of Molecular Autism (BMC) and the American Journal of Medical Genetics Part B Neuropsychiatric Genetics. She was the recipient of a Career Development Award from the NIMH. Vinoth Jagaroo, Ph.D. is associate professor in the Department of Communication Sciences and Disorders at Emerson College and in the Department of Psychiatry and the Behavioral Neuroscience Program at Boston University School of Medicine. Dr. Jagaroo is a member of the Cognitive Neuroscience Society, the International Neuropsychological Society, the Society for Neuroscience, and the American Neuropsychiatric Association. He is the founding member of the Society for Neuroinformatics in Neuropsychology.

Bibliographic Information

  • Book Title: Neurophenotypes

  • Book Subtitle: Advancing Psychiatry and Neuropsychology in the "OMICS" Era

  • Editors: Vinoth Jagaroo, Susan L. Santangelo

  • Series Title: Innovations in Cognitive Neuroscience

  • DOI: https://doi.org/10.1007/978-1-4614-3846-5

  • Publisher: Springer New York, NY

  • eBook Packages: Behavioral Science and Psychology, Behavioral Science and Psychology (R0)

  • Copyright Information: Springer Science+Business Media LLC 2016

  • Hardcover ISBN: 978-1-4614-3845-8Published: 27 February 2017

  • Softcover ISBN: 978-1-4939-7932-5Published: 03 May 2018

  • eBook ISBN: 978-1-4614-3846-5Published: 24 February 2017

  • Series ISSN: 2509-730X

  • Series E-ISSN: 2509-7318

  • Edition Number: 1

  • Number of Pages: XVII, 306

  • Number of Illustrations: 14 b/w illustrations, 15 illustrations in colour

  • Topics: Neuropsychology, Psychiatry, Neurosciences, Neurology

Buy it now

Buying options

eBook USD 99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 129.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access