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The UCL Child Health gateway provides UCL-affiliated researchers a place to rapidly publish any of their results relating to child health, including data sets, negative results, protocols, case reports, incremental findings as well as more traditional narrative-based articles.

The work they carry out can make a difference to children’s lives around the world, so getting results out there quickly and transparently means that they can start making an impact sooner.

In this Q&A with John Achermann, a Wellcome Trust Senior Research Fellow in Clinical Science and Professor of Paediatric Endocrinology, he tells us more about his research on hormone development and explains how publishing on this gateway, where the results and all the underlying data are accessible immediately, can benefit clinicians and scientists.

As one of the first authors to publish on UCL Child Health Gateway, please can you tell us what motivated you to use this platform to publish your research?

I have always felt that open access publishing is important so that data can be shared as widely as possible and results are available for all clinicians and scientists who might benefit from them.

With the increasing demand from funders to publish data in open access format, I think it is very useful to have a more local platform available, which can also highlight the breadth of Child Health Research at UCL.

Please can you tell us more about your field of research?

Our group is interested in the genetics of endocrine (hormone) development and in conditions that affect steroid production early in life. Here, we have teamed up with Professor Gudrun Moore, whose interests include fetal growth and imprinting, and the BabyBioBank, a resource for investigating common complications of pregnancy.

What is the focus of your article?

This article investigates whether variants in a gene called CDKN1C are found in children with fetal growth restriction or in women who have had recurrent loss of pregnancy.

CDKN1C is an important growth repressor. Several years ago, we were involved in a study with collaborators in the USA and Argentina to show that gain-of-function due to variants in a very specific region of CDKN1C cause a growth restriction syndrome, called IMAGe syndrome.

Although IMAGe syndrome typically affects multiple organ systems, others have now shown that changes in CDKN1C can also cause fetal growth restriction in families without other obvious effects.

Here we studied the expression of CDKN1C in different tissues, the genetic makeup of the “hotspot” where variants are found, and asked if gain-of-function variants In CDKN1C were associated with non-familial fetal growth restriction

As CDKN1C is an imprinted gene (only expressed from the mothers copy) it means that the effects of any changes may skip generations and mothers could pass any effects on without having characteristics themselves. Therefore, we also hypothesised that gain-of-function of CDKN1C could also be associated with recurrent loss of pregnancy.

What did you find?

We found that CDKN1C is extremely highly expressed in the developing placenta.

Although we looked at almost 200 individuals, we did not find any likely significant variants in CDKN1C in the children with growth restriction, nor in the mothers with recurrent miscarriage.

These findings suggest that gain-of-function of CDKN1C is not a common cause of these conditions.

What does this add to the current research landscape?

This study highlights the range of features associated with gain of CDKN1C function and addresses the hypothesis that CDKN1C has a wider role in fetal growth and maintenance of pregnancy.

The genetics of recurrent pregnancy loss are still poorly understood and it is possible that factors such as this, that can affect placental function and can skip generations, are good candidates for these conditions.

We believe having this knowledge available is important, even though the results are negative.

Why is it important that child health research is shared quickly and transparently?

The historic focus in publication has, understandably, been on reporting positive findings. This means that negative studies may “sit on the shelf” and a perspective on the relative importance of findings is sometimes lost.

Therefore, I feel that having the results of hypothesis based-research available is important, especially for putting the prevalence of genetic findings into perspective.