MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease.
Summary of "MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease."
Given the rapidly increasing number of reported movement disorder genes and clinical-genetic desciptions of mutation carriers, the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) initiative has been launched in 2016 and grown to become a large international project (http://www.mdsgene.org). MDSGene currently contains >1150 variants described in ∼5700 movement disorder patients in almost 1000 publications including monogenic forms of PD clinically resembling idiopathic (PARK-PINK1, PARK-Parkin, PARK-DJ-1, PARK-SNCA, PARK-VPS35, PARK-LRRK2), as well as of atypical PD (PARK-SYNJ1, PARK-DNAJC6, PARK-ATP13A2, PARK-FBXO7). Inclusion of genes is based on standardized published criteria for determining causation. Clinical and genetic information can be filtered according to demographic, clinical or genetic criteria and summary statistics are automatically generated by the MDSGene online tool. Despite MDSGene's novel approach and features, it also faces several challenges: i) The criteria for designating genes as causative will require further refinement, as well as time and support to replace the faulty list of 'PARKs'. ii) MDSGene has uncovered extensive clinical data gaps. iii) The quickly growing body of clinical and genetic data require a large number of experts worldwide posing logistic challenges. iv) MDSGene currently captures published data only, i.e., a small fraction of the available information on monogenic PD available. Thus, an important future aim is to extend MDSGene to unpublished cases in order to provide the broad data base to the PD community that is necessary to comprehensively inform genetic counseling, therapeutic approaches and clinical trials, as well as basic and clinical research studies in monogenic PD.
Affiliation
Journal Details
This article was published in the following journal.
Name: Journal of Parkinson's disease
ISSN: 1877-718X
Pages: S25-S30
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/30584170
- DOI: http://dx.doi.org/10.3233/JPD-181505
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Medical and Biotech [MESH] Definitions
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Sex
The totality of characteristics of reproductive structure, functions, PHENOTYPE, and GENOTYPE, differentiating the MALE from the FEMALE organism.
Hermaphroditism
A state of intersex or sexual ambiguity, involving the GENOTYPE, the GONADS, the reproductive tract, and/or the external GENITALIA or PHENOTYPE. This concept covers TRUE HERMAPHRODITISM and PSEUDOHERMAPHRODITISM. True hermaphrodites are rare and they possess gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. Pseudohermaphrodites possess gonadal tissue of one sex but exhibit external phenotype of the opposite sex.
Factor Analysis, Statistical
A set of statistical methods for analyzing the correlations among several variables in order to estimate the number of fundamental dimensions that underlie the observed data and to describe and measure those dimensions. It is used frequently in the development of scoring systems for rating scales and questionnaires.
Blinking
Brief closing of the eyelids by involuntary normal periodic closing, as a protective measure, or by voluntary action.
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