Journal article

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")

Edwin P Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Kamien Ben, Tony Roscioli, David J Amor, Madhura Bakshi, Clara WT Chung, Alison Colley, Robyn Jamieson, Jan Liebelt, Alan Ma, Nicholas Pachter, Sulekha Rajagopalan, Anja Ravine, Meredith Wilson, Jade Caruana, Rachael Casella Show all

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2020

Abstract

Reproductive genetic carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked genetic conditions. We developed a gene list for use in "Mackenzie's Mission", a research project in which 10,000 couples will undergo screening. Criteria for selecting genes were: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome. Strong evidence for gene-phenotype relationship was required. Candidate genes were identified from OMIM and via ..

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Grants

Awarded by Australian Government's Medical Research Future Fund as part of the Australian Genomics Health Futures Mission


Awarded by Australian National Health and Medical Research Council


Funding Acknowledgements

The Australian Reproductive Genetic Carrier Screening Project is funded by Australian Government's Medical Research Future Fund as part of the Australian Genomics Health Futures Mission (GHFM73390 (MRFF-G-MM)). NGL is supported by Australian National Health and Medical Research Council Fellowship APP1117510.