Pan-European landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium

Chawner, Samuel J. R. A., Mihaljevic, Marina, Morrison, Sinead, Eser, Hale Yapici, Maillard, Ann M., Nowakowska, Beata, MINDDS Consortium, van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 and Swillen, Ann 2020. Pan-European landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium. European Journal of Medical Genetics 63 (12) , 104093. 10.1016/j.ejmg.2020.104093

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Abstract

Background 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. Methodology 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. Results 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. Conclusion 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Advanced Research Computing @ Cardiff (ARCCA) Cardiff University Centre for Human Development Science (CHDS) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Psychology
Publisher:	Elsevier
ISSN:	1769-7212
Date of First Compliant Deposit:	2 November 2020
Date of Acceptance:	31 October 2020
Last Modified:	11 Jun 2024 10:11
URI:	https://orca.cardiff.ac.uk/id/eprint/136095

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