Higher Autism Polygenic Risk Scores Linked to Differential Methylation Among Newborns

By studying blood samples taken from infants, researchers have found that higher numbers of alleles associated with risk for autism spectrum disorder are also associated with differential methylation at certain spots in the genome.

Autism spectrum disorder is highly heritable, though environmental factors still influence its risk, possibly through epigenetic variation.

Using blood spot samples collected shortly after birth, a University of Exeter Medical School-led team examined methylomic variation in 1,263 infants, about half of whom were later diagnosed with ASD. While they found no differences in overall methylation between the later affected and unaffected infants, the researchers did find a link between increased polygenic burden for autism and differences in methylation at certain loci. As they reported this week in Genome Medicine, these loci are close to a signal previously uncovered through a genome-wide association study of autism

“Our study represents the first analysis of epigenetic variation at birth associated with autism and highlights the utility of polygenic risk scores for identifying molecular pathways associated with etiological variation.”

Read more at genomeweb.com!

Medicine students’ work published in international science journal

Two students from the University of Exeter Medical School have worked on a scientific paper which has been published in Neuroscience, a well-respected international journal.

Kamuran Akkus, a 2nd year Medicine student, and Aurimas Kudzinskas, a 3rd year Medicine student, were part of a group of students who undertook a 10 week laboratory placement with Dr Asami Oguro-Ando this summer. The pair had no laboratory experience prior to the placement.

Dr Oguro-Ando’s research aims to further our understanding of the molecules, cells and circuits that underlie neurodevelopmental disorders affecting mental health. Kamuran and Aurimas worked as part of Dr Oguro-Ando’s team to research a gene associated with Autism spectrum disorder.

Findings from the paper, CD38 is required for dendritic organisation in visual cortex and hippocampus, suggested that a certain gene called CD38 is implicated in the development of brain areas associated with social behaviour. This type of research is key to expanding our understanding of the brain and behaviour, as well as relatively common conditions such as Autism spectrum disorder, which affects 1 in 100 people in the UK.

Read more here!

Dementia research at Exeter gets £190,000 boost!

The dementia research charity BRACE and Kirby Laing Foundation have together awarded more than £190,000 to the University of Exeter Medical School to support cutting-edge genomic research to better understand the causes of dementia.

Kirby Laing has provided £90,000 of funding to support a three-year PhD post in the Complex Disease Epigenetics Group within the Medical School’s world-leading research team that investigates how the way genes are activated influences disease.

Previously, the team has been involved in identifying a number of regions of the genome that are altered in Alzheimer’s disease. Now, the PhD funding, in partnership with BRACE, will allow them to hone in on a specific region, known as HOXA3, and use state-of-the-art techniques to establish how and why this gene is altered in Alzheimer’s disease.

An additional £100,000 of BRACE funding is supporting a two-year project to compare how gene regulation is altered in Alzheimer’s disease compared to in Parkinson’s disease, in collaboration with researchers at Cardiff University, with the aim of identifying unique genes to each dementia.

For more information follow the link here to read the full story!


Congratulations to the new RSE Cloud Computing Fellows

SSI - software.ac.uk“Research Software Engineers drive advances in how research can be done more effectively using all manner of software, computing systems and infrastructure. As a community, RSEs drive positive change to progress the state-of-the-art to do better, faster, and more reproducible research. It’s clear that cloud computing is playing an increasingly important role in research, so Microsoft is privileged to be able to support the RSE community, and researchers across the world, to exploit cloud computing across all domains through our Azure for Research program.

We were delighted to see so many high-quality applications to the RSE Cloud Computing Awards call, and so have decided to give all applicants access to Microsoft Azure to pursue the wide-range of exciting activities proposed. We particularly congratulate the successful awardees from across the UK, who can now pursue their plans for training, workshops, community software development, and cutting-edge research using Microsoft Azure.”


Find out more about the Cloud Computing Awards or about the Awardees, including our own Eilis Hannon!


“Eilis had a particular focus on schizophrenia and other neuropsychiatric disorders and therefore is interested in the dynamic nature of gene expression and epigenetic variation during human brain development. As strong advocates of open access research, the group routinely share these data through online tools enabling other researchers to explore and visualise specific genes or genomic locations relevant for their work. As the complexity and quantity of data increases, this Cloud Computing award will enable Eilis to develop more advanced tools, increasing the utility of these to the wider genomics community.”

Exeter Professor wins international award for psychiatric genetics research

A genetics researcher has won a prestigious award from the International Society of Psychiatric Genetics (ISPG) for his work on diseases that affect the brain.

Professor Jonathan Mill, of the University of Exeter Medical School, has been presented with the 2017 Theodore Reich Young Investigator Award, a prize which celebrates exceptional research in the field of psychiatric genetics.

The award is named after Theodore (Ted) Reich (1938-2003) who was the first President of the ISPG and was both an outstanding researcher and mentor to young scientists. The award was presented at the recent World Congress of Psychiatric Genetics in Orlando, Florida, an annual international conference for experts in the field.

Professor Mill leads the Complex Disease Epigenetics Group, a team which focuses on understanding the way in which genes function in the brain, and how changes in their activity may influence mental health and disease. Professor Mill’s research explores gene regulation in diseases including schizophrenia, bipolar disorder, Alzheimer’s disease and autism.

Read more at The Exeter Daily!

More than £1 million to identify genomic changes in schizophrenia

The Medical Research Council is awarding more than £1 million to the University of Exeter Medical School to continue their pioneering work into how and why schizophrenia develops.

Scientists have long known that schizophrenia, which usually becomes evident during adolescence or in young adulthood, has its origins in the brain before birth.

The research team which also involves the University of Essex will use cutting-edge DNA sequencing technology funded by a previous Medical Research Council grant to explore patterns of gene activity in the brain as it grows and develops, and the role that changes in these patterns play in schizophrenia. They will also profile a unique collection of post-mortem brain tissue donated by patients with schizophrenia from around the world.


Read the full article at the University of Exeter website .

Pioneering schizophrenia research is happening in Exeter

Pioneering research work in Exeter into how and why schizophrenia develops will continue following a grant of more than £1m.

Scientists have long known that schizophrenia, which usually becomes evident during adolescence or in young adulthood, has its origins in the brain before birth.

A research team at the University of Exeter Medical School will use cutting-edge DNA sequencing technology funded by a previous Medical Research Council grant to explore patterns of gene activity in the brain as it grows and develops, and the role that changes in these patterns play in schizophrenia.

To read more visit Devon Live!

Methylome, sweet methylome

After the Human Genome Project revealed that humans had roughly the same number of genes as a fruit fly, attention rapidly refocused on gene regulation, with the realisation that control of gene expression was a key factor in human biology (and disease). In particular, work on epigenetic modifications of DNA and histones has exploded in popularity. Based at Exeter and King’s College London, Jonathan Mill is examining modifications to DNA – particularly cytosine methylation – in the human brain, and the potential consequences it could have for both neurodevelopmental and neurodegenerative disorders.

Read the full BNA article here

Exeter scientist wins prestigious dementia prize

University of Exeter researcher Dr Katie Lunnon has won the Early Career Investigator of the Year Award at the Alzheimer’s Research UK Conference 2017. The prestigious prize celebrates excellence in dementia research and comes with £25,000 for Dr Lunnon to spend on her cutting-edge research in a field of biology called epigenetics.

To find out more visit the University of Exeter website

Or watch a video interview with her here

Exeter Researchers Take On 350 Mile Cycle Challenge To Defeat Dementia

A team of six passionate dementia researchers from the University of Exeter are uniting against dementia and cycling 350 miles from London to Paris in a bid to raise £12,000 for the charity Alzheimer’s Society.

The team will embark on their challenge on 19 July this year with a view to arriving in Paris, and crossing the Tour de France finish on the Champs D’Elysee, four days later.

To read more visit The Exeter Daily!