Prenatal death and infertility: New research to speed up gene discovery process

02 May 2019

Investigating the cause of miscarriage and infertility is the focus of a new study from the Kids Research team - which will change the way clinical geneticists search for the genetic basis for unexplained, recurrent, prenatal death or infertility.

“Finding the genetic cause of single gene disorders have come a long way but it’s still really difficult for families with prenatal death or miscarriage or infantile mortality,” said Ruebena Dawes from Kids Research.

The study published this month - Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality - authored by Kids Research’s Ruebena Dawes, Senior Research Fellow Sandra Cooper, and Monkol Lek based at Yale School of Medicine, has detailed a list of candidate genes that others can now use as a starting point to further investigate issues of miscarriage or infertility.

Researchers working on the paper say geneticists should look here first when investigating prenatal death and infertility.

“In contrast to studies in mice, which show around 39 per cent of murine genes are vital to make a healthy pup, only three per cent of human genes are currently linked to disorders involving prenatal death,” said KR’s Ruebena Dawes. 

“So it here is a huge hole in our understanding of genes that are vital for human development. It’s likely there’s many more we just don’t know about.”

Sizeable data sets about genes which cause lethality in mice, data on population genetics, and variants in healthy populations were used by the authors to come up with a list of strong candidate genes.

“If a gene is lethal in a mouse and we don’t know if it causes disease in humans, it’s likely that mutations in these genes cause lethality in a human,” Ms Dawes said.

“It’s (the study) bringing together a lot of different information that a number of researchers have gathered and don’t know how to collate.”

KR is hoping to follow on from the study in the next few years to strengthen the search for genetic causes of prenatal death and miscarriage.

The study was published by npj Genomic Medicine and can be viewed here.

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