Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.
Details
Serval ID
serval:BIB_CAFE2CE91042
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.
Journal
European journal of medical genetics
Working group(s)
MINDDS Consortium
Contributor(s)
Tatar A., Harwood A., Fortuna A., Malousi A., Swillen A., Maillard A.M., Şen A., Nowakowska B., Lozic B., Izgi B., Linden D., Taruscio D., Gothelf D., Bora E., Angelovska E.S., Boot E., Perçin F., Degenhardt F., Chiarenza G., Cuturilo G., Eser H.Y., Aschauer H., Siebner H., Moss H., Kayserili H., Sønderby I.E., Libiger J., Karaer K., Baker K., Kendall K., Gallagher L., Raymond L., Budisteanu M., Janovic M.B., Isrie M., Martins M., do Rosário Pinto Leite M., van den Bree M., Raleva M., Mihaljevic M., Alikasifoglu M., Larsen M., Diana M., Paneque M., Schloegelhofer M., Oliva-Teles N., Miljanovic O., Jorge P., Skiba P., O'conaill R., Smigiel R., Stefanov R., Chawner S., Frkovic S.H., Ciric S., Medved S., Bergen S., Ceylaner S., Rakic S., Markovska-Simoska S., Pušeljić S., Morrison S., Djurovic S., van Amelsvoort T., Cora T., Peycheva V., Koutkias V., Saglam Y., Kodra Y., Celik Z.Y.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Publication state
Published
Issued date
12/2020
Peer-reviewed
Oui
Volume
63
Number
12
Pages
104093
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
Several rare copy number variants have been identified to confer risk for neurodevelopmental disorders (NDD-CNVs), and increasingly NDD-CNVs are being identified in patients. There is a clinical need to understand the phenotypes of NDD-CNVs. However due to rarity of NDD-CNVs in the population, within individual countries there is a limited number of NDD-CNV carriers who can participate in research. The pan-european MINDDS (Maximizing Impact of Research in Neurodevelopmental Disorders) consortium was established in part to address this issue.
A survey was developed to scope out the current landscape of NDD-CNV research across member countries of the MINDDS consortium, and to identify clinical cohorts with potential for future research.
36 centres from across 16 countries completed the survey. We provide a list of centres who can be contacted for future collaborations. 3844 NDD-CNV carriers were identified across clinical and research centres spanning a range of medical specialties, including psychiatry, paediatrics, medical genetics. A broad range of phenotypic data was available; including medical history, developmental history, family history and anthropometric data. In 12/16 countries, over 75% of NDD-CNV carriers could be recontacted for future studies.
This survey has highlighted the potential within Europe for large multi-centre studies of NDD-CNV carriers, to improve knowledge of the complex relationship between NDD-CNV and clinical phenotype. The MINNDS consortium is in a position to facilitate collaboration, data-sharing and knowledge exchange on NDD-CNV phenotypes across Europe.
A survey was developed to scope out the current landscape of NDD-CNV research across member countries of the MINDDS consortium, and to identify clinical cohorts with potential for future research.
36 centres from across 16 countries completed the survey. We provide a list of centres who can be contacted for future collaborations. 3844 NDD-CNV carriers were identified across clinical and research centres spanning a range of medical specialties, including psychiatry, paediatrics, medical genetics. A broad range of phenotypic data was available; including medical history, developmental history, family history and anthropometric data. In 12/16 countries, over 75% of NDD-CNV carriers could be recontacted for future studies.
This survey has highlighted the potential within Europe for large multi-centre studies of NDD-CNV carriers, to improve knowledge of the complex relationship between NDD-CNV and clinical phenotype. The MINNDS consortium is in a position to facilitate collaboration, data-sharing and knowledge exchange on NDD-CNV phenotypes across Europe.
Keywords
DNA Copy Number Variations, Databases, Genetic, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Europe, Gene Frequency, Genetic Testing/methods, Genetic Testing/statistics & numerical data, Genome-Wide Association Study/methods, Genome-Wide Association Study/statistics & numerical data, Humans, Information Dissemination, Phenotype, Copy number variants, European, Medical genetics, Neurodevelopmental disorders, Psychiatric genetics, Research collaboration
Pubmed
Web of science
Open Access
Yes
Create date
22/11/2020 12:23
Last modification date
20/02/2024 8:28