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Wellcome Trust Research Round-Up: 07.12.15

7 Dec, 2015

Our fortnightly round-up of news from the Wellcome Trust community…

Kidney cancer in the genes

N0006990 Cancer of the kidney (Wilms tumour, nephroblastoma)

Genetic mutations in a gene called REST causes some cases of Wilms tumour, a rare childhood kidney cancer, according to Wellcome Trust-funded research published in Nature Genetics.

Scientists from The Institute of Cancer Research studied 16 children with Wilms tumour who also had the mutations in the REST gene. Four were from families where more than one child had developed the cancer, suggesting that an inherited genetic cause was likely. The cancer, which affects around one in every 10,000 children, is fortunately curable in 90% of cases.

Researchers have estimated that the REST mutations causes approximately 10% of hereditary Wilms tumour cases.

While scientists are already familiar with the REST gene, this research provides a new, unrecognised role of REST to the field of human genetics.

Professor Nazneen Rahman, Head of Genetics and Epidemiology at The Institute of Cancer Research, London, and Head of Cancer Genetics at The Royal Marsden NHS Foundation Trust, said, “We hope our findings will stimulate research into why and how these REST mutations, which all cluster in a particular part of the gene, cause cancer. Our findings are also of immediate value to families, who now have an explanation for why their child got cancer.

Moreover, we can now do a simple blood test to see which children in the family are at risk of cancer and may benefit from cancer screening, and which have not inherited the mutation and so are not at increased risk of cancer.”

A closer look at life expectancies and HIV

hiv.jpgIncreased availability of antiretroviral therapy (ART) for HIV in South Africa has been accompanied by greater improvements in life expectancy for women than men over the past decade, according to new research published in PloS Medicine.

Scientists at the Wellcome Trust-funded Africa Centre for Population Health, Boston University and Harvard T.H. Chan School of Public Health found that while HIV mortality rates declined and life expectancy rose when ART was scaled up in 2004, the improvements were greater for females than males.

The research focused on causes and numbers of deaths in the rural region of KwaZulu-Natal. The study indicates that between 2003 and 2011, female life expectancy increased four years more than it did for males. By 2011, women were 27% less likely to die of HIV. The research concluded that more attention needs to be placed on men with HIV in order to reach international targets for HIV/AIDS testing and treatment.

Jacob Bor, the study’s first author and an Africa Centre affiliate said, “Our results suggest that further research to understand male deficits in care-seeking and to design effective interventions to increase uptake of HIV services among men is needed to realize the full benefits of mass ART provision.”

Planned C-sections play a role in asthma

baby.jpgChildren born by planned Caesarean section are at a slightly higher risk of developing asthma than those who aren’t, according to Wellcome Trust-funded research from the University of Aberdeen.

The study, published in the American Medical Association Journal JAMA, also contradicts previous research claiming that there is no increased risk of obesity in children up to the age of five who were born by C-section.

Scientists analysed data from over 300,000 births between 1993 and 2007 across Scotland. They found that hospital admission for asthma was more likely to occur in those born by planned C-section than to those born vaginally; 3.7% compared to 3.4%.

While C-sections may contribute to explaining global increases in asthma, the absolute differences in risk was very low, so it’s unlikely to significantly influence individual decisions for childbirth.

Dr Mairead Black, a clinical lecturer who led the study said, “The current thinking is, if a baby is exposed to labour, then it is also exposed to ‘good bacteria’ that mothers pass on during the birth, and they are also exposed to a degree of natural stress at the time of birth that might make them more resistant to developing future illnesses.”

This is an observational study, so we cannot definitively say that the planned C-section is the cause of the small increase in risk of asthma. However, this is a particularly robust piece of research that took several important factors into account, so we are confident in saying the delivery could be playing a role in the development of asthma.”

New recipe for treating malaria

B0008763 Scales on a mosquito leg (Anopheles stephensi)

Combining less effective drugs with the most effective ones is the most successful way to treat malaria, according to new research published in the Lancet Global Health.

Currently, the best life-saving malaria drug is artemisinin, but as the drug becomes used more frequently artemisinin-resistant malaria parasites are spreading. A computer simulation study now suggests that the best way to treat the disease is to combine non-artemisinin therapy with artemisinin-based combinations.

Researchers based at the Wellcome Trust-supported Oxford University Clinical Research Unit in Vietnam found that the optimal combination was to prescribe artemisinin with other drugs on different days of the week. This was more effective than either alternating between different artemisinin combination therapies, or continuing with one combination until it no longer worked as well.

Professor Maciej Boni, a Sir Henry Dale Fellow and senior author of the paper (which also features Wellcome Trust Director Jeremy Farrar as a co-author) said: “The nightmare we all want to avoid is the establishment of artemisinin resistance in Africa, where hundreds of millions of individuals rely on artemisinin-based therapies as their first-line antimalarial treatment.  By deploying different antimalarial therapies simultaneously – including non-artemisinin-based therapies – national malaria control programs in Africa should be able to slow down the spread of artemisinin-resistant parasites when they are imported into the continent.”

In other news…

malaria heroes

Congratulations to Sara Canavati, senior research scientist and infectious disease epidemiologist at the Wellcome Trust-supported Mahidol-Oxford Tropical Medicine Research Unit for winning the Social Media Awards for Malaria heroes. You can follow her @SaraCanavati.

Wellcome Trust-funded research at the University of East Anglia has been awarded the Times Higher Education’s Research Project of the Year. The project, led by Dr Changjian Dong, published a breakthrough in understanding the “Achilles heel” of drug resistant bacteria last year. Professor David Clark, another Wellcome Trust supported researcher, was also shortlisted for his work on End of Life Studies.

Registration is now open for an Open Science Prize webinar taking place on 10 December at 4pm (GMT). To find out more about the Open Science Prize, see our previous blog post.

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