Rare single gene disorders: Estimating baseline prevalence and outcomes worldwide

H. Blencowe; S. Moorthie; M. Petrou; H. Hamamy; S. Povey; A. Bittles; S. Gibbons; M. Darlison; B. Modell

doi:10.1007/s12687-018-0376-2

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Rare single gene disorders: Estimating baseline prevalence and outcomes worldwide

Journal article

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Peer reviewed

Rare single gene disorders: Estimating baseline prevalence and outcomes worldwide

H. Blencowe, S. Moorthie, M. Petrou, H. Hamamy, S. Povey, A. Bittles, S. Gibbons, M. Darlison and B. Modell

Journal of Community Genetics, Vol.9(4), pp.397-406

2018

DOI: https://doi.org/10.1007/s12687-018-0376-2

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Abstract

As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on common genetic disorders. Rare single gene disorders are an important source of morbidity and premature mortality for affected families. When considered collectively, they account for an important public health burden, which is frequently under-recognised. To document the collective frequency and health burden of rare single gene disorders, it is necessary to aggregate them into large manageable groupings and take account of their family implications, effective interventions and service needs. Here, we present an approach to estimate the burden of these conditions up to 5 years of age in settings without empirical data. This approaches uses population-level demographic data, combined with assumptions based on empirical data from settings with data available, to provide population-level estimates which programmes and policy-makers when planning services can use.

Details

Title: Rare single gene disorders: Estimating baseline prevalence and outcomes worldwide
Authors/Creators: H. Blencowe (Author/Creator) - London School of Hygiene & Tropical Medicine
S. Moorthie (Author/Creator) - PHG Foundation
M. Petrou (Author/Creator) - Institute of Women’s Health#N#, University College London, London, UK
H. Hamamy (Author/Creator) - University of Geneva
S. Povey (Author/Creator) - University College London
A. Bittles (Author/Creator) - Edith Cowan University
S. Gibbons (Author/Creator) - London School of Economics and Political Science
M. Darlison (Author/Creator) - University College London
B. Modell (Author/Creator) - University College London
Publication Details: Journal of Community Genetics, Vol.9(4), pp.397-406
Publisher: Springer Verlag
Identifiers: 991005541051807891
Murdoch Affiliation: Centre for Comparative Genomics
Language: English
Resource Type: Journal article

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