Call for participation in the neurogenetics consortium within the Human Variome Project

Abstract

The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the "Neurogenetics Consortium" under the umbrella of the Human Variome Project. The Consortium's founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource.

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

“…Recent meetings of the HVP neurogenetics consortium [Haworth et al, 2010] have determined that global access to comprehensive repositories of genetic variant data were particularly apposite for neurogenetics due to the large number of disease genes, significant genetic heterogeneity, clinical variability, and complex genotype-phenotype relationships in neurological disorders. Also stated were the significant shortcomings in the current situation with regard to databases for genes relevant to neurogenetics.…”

Databases for neurogenetics: Introduction, overview, and challenges

“…These and other issues are being discussed with a multidisciplinary approach within the HVP consortium and recommendations are being produced [Kaput et al, 2009;Povey et al, 2010]. However, specific characteristics of neurological disorders call for the confluence of experts in the clinical aspects, as well as in neuropathology, neurophysiology, neuroimaging, genetics, and molecular and cell biology [Haworth et al, 2011]. Some of these challenges are reviewed in more depth in this special issue of Human Mutation.…”

“…In addition to countrycentered collections, the HVP is also fostering the organization of clinical discipline-centered working groups, one of which is the neurogenetics consortium [Haworth et al, 2011]. Neurogenetics can be defined as an intersection of the fields of genetics, neurology, and neuroscience to gain a better understanding of the molecular mechanisms involved in the function and dysfunction of the nervous system.…”

Developing the “next generation” of genetic association databases for complex diseases

“…This vast amount of information is becoming increasingly difficult to follow, evaluate, let alone interpret. To this end, the vision of the Human Variome Project (HVP) is "to develop a global collaboration with the aim of building systems and strategies for the collection, storage, interpretation and sharing of human genetic variation and its implications for disease" [Haworth et al, 2011]. Along these lines, the HVP has emphasized the need for disease-specific genetic association databases that would systematically identify and collect the relevant data, quantitatively assess the impact of genetic variants on complex disorders, and make the results available in high-quality, user-friendly databases [Haworth et al, 2011;Cotton et al, 2007].…”

“…To this end, the vision of the Human Variome Project (HVP) is "to develop a global collaboration with the aim of building systems and strategies for the collection, storage, interpretation and sharing of human genetic variation and its implications for disease" [Haworth et al, 2011]. Along these lines, the HVP has emphasized the need for disease-specific genetic association databases that would systematically identify and collect the relevant data, quantitatively assess the impact of genetic variants on complex disorders, and make the results available in high-quality, user-friendly databases [Haworth et al, 2011;Cotton et al, 2007]. Independently from the HVP, our group has already developed and continues to maintain a number of such genetic association databases for neuropsychiatric diseases [Allen et al, 2008;Bertram et al, 2007;Lill et al, , 2012 such as AD, PD, ALS, MS, and schizophrenia.…”