Overview

Rachel is a Wellcome Trust Senior Research Fellow and Associate Professor at the University of Exeter Medical School. Her team aims to use genetics to understand the factors affecting the growth of a foetus in utero and its association with type 2 diabetes in adulthood.

A key feature of her team's work is to bring together data from large studies of mothers and babies. Rachel is leading genome-wide meta-analyses of birth weight and related characteristics in the Early Growth Genetics (EGG) Consortium, an international collaboration of investigators. These analyses have resulted in publications in Nature (2016), Nature Genetics (2010, 2013, 2019) and Human Molecular Genetics (2018), identifying 190 regions of the genome harbouring variants that are robustly associated with birth weight, and highlighting genetic links between fetal growth and adult cardiometabolic traits.

As well as identifying genetic associations, the team is using these genetic associations in Mendelian randomization analyses to try to understand whether maternal characteristics are causally related to offspring birth weight. With colleagues in the EGG Consortium, in analyses of >30,000 women, the team has provided evidence that higher maternal BMI and fasting glucose are causally related to greater offspring birth weight, while higher maternal blood pressure is causally related to lower offspring birth weight (JAMA, 2016; Nature Genetics, 2019).

Qualifications

 2007 - PhD, University of Exeter (Molecular Genetics of Type 2 Diabetes and Body Size)

2004 - MSc, University of Exeter (Biological Research Methods, Distinction)

1999 - PGCE, University of Oxford (Secondary Science)

1998 - BA (Hons), University of Oxford (Biological Sciences) [MA (Oxon), 2002]

Career

Rachel graduated with a BA in Biological Sciences from the University of Oxford in 1998 and, following four years as a secondary school Science teacher in Devon, completed an MSc and PhD at the University of Exeter. As a Diabetes UK-funded PhD student with Professors Andrew Hattersley and Tim Frayling, she participated in the first genome-wide association studies of type 2 diabetes and developed an interest in the maternal and fetal genetics of birth weight and its link with type 2 diabetes.

In 2008, she was awarded a Sir Henry Wellcome Postdoctoral Fellowship to investigate the role of genes in fetal and childhood growth and to spend time working and training in Exeter, Bristol, and Chicago. This has enabled her to collaborate with world-leading experts in genetics, diabetic medicine, statistical methods and epidemiology, and bring together data from the Exeter Family Study of Childhood Health, the Avon Longitudinal Study of Parents and Children (ALSPAC) and the Hyperglycaemia and Adverse Pregnancy Outcome (HAPO) study.

Rachel was awarded a prestigious Sir Henry Dale Fellowship in 2014 by the Wellcome Trust and Royal Society. Her current work focuses on using maternal and fetal genetics to understand the role of the intrauterine environment in fetal growth.

Links

• Early Growth Genetics (EGG) Consortium website
• Avon Longitudinal Study of Parents and Children (ALSPAC)
• Exeter Family Study Of Childhood Health (EFSOCH)
• Birth weight and later life disease: unravelling genetic effects of child and mother - blog post relating to Nature 2016 paper and explaining complexities involved in genetic studies of birth weight
• Birth weight and diabetes: what did we find? - Blog commentary on Nature 2016 paper
• In praise of UK Biobank - blog post relating to Nature 2016 paper and how UK Biobank was key
• Video of Rachel describing a collaborative study published in 2019
• Short video of Rachel describing her work

Research group links

• Institute of Biomedical and Clinical Science
• Diabetes, cardiovascular risk and ageing

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Research

Research interests

Research projects

Genome-wide association studies to identify fetal and maternal genetic variants that influence offspring birth weight.

Using genetics to identify causality in associations between maternal quantitative traits and offspring birth weight.

Genetics of gestational diabetes mellitus.

RESEARCH STUDENTS:

Dr. Freathy would be pleased to supervise research post-graduate students in the above research areas. If any of these are of interest please contact us.

Research grants

• 2019 Diabetes UK
  PhD Studentship: Using genetics to improve the prediction of large for gestational age babies in women with gestational diabetes
• 2014 Wellcome Trust and Royal Society
  Using genetics to understand how the maternal intrauterine environment influences fetal growth
• 2008 Diabetes, UK.
  Defining the roles and mechanisms of type 2 diabetes, obesity and hyperglycaemia genes in fetal growth
• 2008 Wellcome Trust
  Sir Henry Wellcome Postdoctoral Fellowship: The Role of Maternal and Offspring Metabolic and Anthropometric Gene Variants in Fetal and Childhood Growth

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External Engagement and Impact

Awards

• 2009. American Society of Human Genetics Postdoctoral Trainee Research Award Semi-Finalist.

• 2008. Sir Henry Wellcome Postdoctoral Fellowship.

• 2007. Diabetes UK Nick Hales Young Investigator Award Finalist.

• 2006. Diabetes UK Basic Science Oral Award Finalist.

• 2004. Diabetes UK Arthur and Sadie Pethybridge Studentship.

Editorial responsibilities

• 2009-2011. Diabetes Editorial Board Member.

Invited lectures & workshops

“Perspectives from a former Sir Henry Wellcome Fellow” Keynote speech at Sir Henry Wellcome Fellows’ meeting, Wellcome Trust, June 26, 2018

“Insights from genetic studies of birth weight” Keynote presentation at the MRC Integrative Epidemiology Unit Quinquennial Showcase Event, We the Curious, Bristol, UK, May 1, 2018.

“Insights from genetic studies of birth weight” Genes, Genomes and Pediatric Disease Seminar Series, Children’s Hospital of Philadelphia, Philadelphia, USA, April 3, 2018.

 “Genetics of birth weight and later life diseases” Developmental Origins of Health and Disease 10thWorld Congress: Lifecourse Health and Disease: Observations, Experiments and Interventions, Rotterdam, the Netherlands, October 16, 2017.

“Genetic and environmental determinants of birth weight and links with later life disease” Keystone Symposium: Maternal-Fetal Crosstalk: Harmony vs. Conflict, Washington DC, USA, October 8, 2017.

“Causal associations between maternal characteristics and offspring birth weight” Mendelian Randomization in the Age of Large-Scale Accessible Genomics Data, Bristol, UK, July 11, 2017.

“Genetic studies of birth weight: the importance of maternal and fetal data” Wellcome Trust Researcher meeting on Genetics and Physiology, Hinxton, UK, June 14, 2017.

“Using genetics to understand how the intrauterine environment influences birth weight” European Association for the Study of Diabetes (EASD) 52nd Annual Meeting Munich, Germany, September 14, 2016.

“Using genetics to understand the link between type 2 diabetes and birth weight”. Jacobaeus Symposium: Genomics of diabetes – what’s next? Bikuben Conference Center, Haukeland University Hospital, Bergen, Norway, May 18-19, 2016.

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Supervision / Group

Research Fellows

Postdoctoral researchers

Postgraduate researchers

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