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Neurogenetics research sheds light on the causes of neurological disease

Cell Press

The last two decades have seen tremendous progress in understanding the genetic basis of human brain disorders. Research developments in this area have revealed fundamental insights into the genes and molecular pathways that underlie neurological and psychiatric diseases. In a new series of review articles published by Cell Press in the October 21 issue of the journal Neuron, experts in the field discuss exciting recent advances in neurogenetics research and the potential implications for the treatment of these devastating disorders.

Genetic discoveries have transformed clinical practice in neurology and psychiatry and provided new hope for many patients and their families. Recent advances in sequencing technologies coupled with improved analytical and computational approaches have led an amazing pace of discovery of genes linked to human disease. The complexity of neuropsychiatric and neurological disorders is apparent in the fast-growing list of genetic defects linked to these diseases. These genetic findings have provided key insight into underlying causes of these disorders and inspired further research aimed at prevention and therapy.

Genetic research has great potential for revolutionizing the treatment of human disease. However, the translation of genetic findings into the development of new disease therapies can take time. In an overview of the series, researchers Huda Zoghbi from Baylor College of Medicine and Stephen Warren from Emory University School of Medicine discuss recent achievements in neurogenetics research and the promise that it holds for disease treatment. They point out that gene discovery is a critical first step in the path to development of new therapies and that follow up investigations are needed to reveal disease pathways that lend themselves to therapeutic intervention. These preclinical investigations are a key step in the translation of genetic discoveries to clinical applications. Recent data from mouse disease models indicate that some developmental and degenerative diseases are reversible. These findings provide hope that genetic discoveries could potentially lead to the reversal of serious neurological and psychiatric disorders through the development of therapeutics that suppress the pathways contributing to disease.

Zoghbi and Warren make a strong case for the need for scientific collaboration and the appropriate infrastructure to support partnerships among academic research, governments, private institutions and foundations, and pharmaceutical industries. The authors argue that combining resources and expertise will help accelerate the development of therapies based on genetic discoveries.


This series of review articles covers a wide spectrum of recent research in neurogenetics, including the genetics of Parkinson and Alzheimer disease, human developmental and neurogenetics, and the genetics of child psychiatric disorders. All articles are freely available on the Neuron website ( for a limited time.


  • Neurogenetics: Advancing the ''Next-Generation'' of Brain Research H.Y. Zoghbi and S.T. Warren
  • Tangles of Neurogenetics, Neuroethics, and Culture E. Brief and J. Illes
  • Healing Genes in the Nervous System X.O. Breakefield and M. Sena-Esteves
  • The Psychiatric GWAS Consortium: Big Science Comes to Psychiatry P.F. Sullivan
  • Changing the Landscape of Autism Research: The Autism Genetic Resource Exchange C.M. Lajonchere and the AGRE Consortium
  • The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors G.D. Fischbach and C. Lord
  • Nature versus Nurture: Death of a Dogma, and the Road Ahead B.J. Traynor and A.B. Singleton
  • Genetic Analysis of Pathways to Parkinson Disease J. Hardy
  • From Single Genes to Gene Networks: High-Throughput-High-Content Screening for Neurological Disease S. Jain and P. Heutink
  • Neurocognitive Phenotypes and Genetic Dissection of Disorders of Brain and Behavior E. Congdon, R.A. Poldrack, and N.B. Freimer
  • Human Brain Evolution: Harnessing the Genomics (R)evolution to Link Genes, Cognition, and Behavior G. Konopka and D.H. Geschwind
  • Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease C.A. Walsh and E.C. Engle
  • The Genetics of Child Psychiatric Disorders: Focus on Autism and Tourette Syndrome M.W. State
  • The Genetics of Alzheimer Disease: Back to the Future L. Bertram, C.M. Lill, and R.E. Tanzi
  • Episodic Neurological Channelopathies D.P. Ryan and L.J. Ptácek
  • Hearing Impairment: A Panoply of Genes and Functions A.A. Dror and K.B. Avraham
  • Genetic Advances in the Study of Speech and Language Disorders D.F. Newbury and A.P. Monaco

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