The Genetics of Neurodevelopmental Disorders

Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting.

The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions.

A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

Foreword (Kevin Mitchell):
-What is a neurodevelopmental disorder?
-Overview of major concepts/topics covered

 1. Overview of genetic architecture (Kevin Mitchell)
     a. Mendelian vs “complex” disorders
     b. Genetic heterogeneity
     c. Known vs idiopathic
     d. Common and rare mutations
     e. Polygenic vs monogenic or oligogenic
     f. Maternal effect

 2. Overlapping etiology (Mike Owen)
     a. Intellectual disability – autism – SZ – epilepsy, etc.

 3. The mutational spectrum (Evan Eichler)
     a. De novo vs inherited
     b. Point mutations, CNVs, translocations
     c. Allelic specificity
     d. Dominant vs recessive

 4. Genetic modifiers / genomic context (David Goldstein)
      a. Phenotypic variability
      b. Oligogenic interactions
      c. Sex effects

  5. Genetic networks/systems: (Andreas Wagner)
      a. Robustness and fragility
      b. Dosage sensitivity
      c. Allele frequency
      d. Balancing selection
      e. Cryptic genetic variation

 6. Environmental factors (John McGrath)
     a. Epidemiology
     b. Gene-environment interactions

  7. Brain malformations (Chris Walsh)
      a. Proliferation
      b. Patterning
      c. Cell migration

  8. Ciliopathies (Joe Gleeson)
      a. Joubert syndrome
      b. Bardet-Biedl syndrome
      c. etc.

 9. Disorders of axon guidance (Elizabeth Engle)
     a. Various conditions

 10. Disorders of the synapse (Thomas Bourgeron)
       a. Synapse formation
       b. Synaptic plasticity

 11. Metabolic disorders (Tony Futerman)
       a. Lysosomal storage
       b. Various other conditions.

12. Cellular models (Pierre Vanderhaeghen)
      a. Induced pluripotent stem cell
      b. Generating neurons
      c. Analysing phenotypes

13. Animal models (Joseph Gogos)
      a. Recapitulating human alleles
      b. Genetic background/modifiers
      c. From genetic to neural mechanisms
      d. Phenotypic convergence on pathophysiological states

 14. Cascading effects (Annette Karmiloff-Smith)
       a. How phenotype shapes environment and experience
       b. Emergent phenotypes
       c. Opportunities for intervention

 15. Genetic diagnoses / clinical genetics (James Lupski)
       a. Current ability / approaches
       b. Technical/ethical issues
       c. Risk to siblings
       d. Implications for acceptance, prognosis and treatment
       e. Prenatal diagnosis, preimplantation genetic diagnosis/screening

 16. Towards therapies and interventions (Mark Bear)
       a. Correction vs compensation
       b. E.g., Fragile X
       c. Identification of high-risk individuals
       d. Non-medical interventions (e.g., ABA)

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