What DNA does for health data research - DNA Day 2023
Health Data Research UK (HDR UK)
We are the United Kingdom's national institute for health data science.
This year's DNA Day celebrates both the the 70th anniversary of the discovery of the DNA double helix and the 20th anniversary of the Human Genome Project’s completion.
We reflect on the role of these momentous discoveries in health data research.
Investigating the links between father chemotherapy and gene mutation rates in children
While children are a product of their biological parent's genetics, they typically have 60 to 70 new gene mutations that arise through DNA replication. When a much higher number of new mutations occur, this is called hypermutation. Hypermutation in children is uncommon, but it increases the risk of life-altering genetic diseases, known as dominant disorders.
Researchers at the Wellcome Sanger Institute used a dataset of 20,000 UK families to look identify children with up to seven times more mutations than the general population. These families had participated in the Deciphering Developmental Disorders Study or the 100,000 Genomes Project as part of a rare disease cohort and their genetic data was linked to clinical records, which enabled researchers to look at their family health histories.
Through this analysis, the team identified a potential link to between biological fathers receiving certain chemotherapy treatments and hypermutation in their children.
Genetic variations in inflammatory bowel disease
How patients respond to the different treatments for inflammatory bowel disease is thought to be linked genetic variations.
Gut Reaction — the Health Data Research Hub for IBD — is investigating whether genetic variations in patients with IBD are linked to differences in IBD symptoms and responses to treatment. Identifying these markers will support the development of new, potentially more effective medications.
Improving the lives of people living with severe mental illness
Research suggests that people with a severe mental illness, such as bipolar disorder and schizophrenia, can have a lower life expectancy.
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The main cause of early death in the UK is heart disease, linked to risk factors such as low socioeconomic status, alcohol and smoking which are more common in mental illness and increase with severity of disease. Medication for mental illness further increases risks of heart disease through increased weight gain.
Dr Rona Strawbridge is using genetic data to delve deeper into why people with severe mental illness are more susceptible to heart disease.
Alternative way to measure blood glucose control in diabetes
Measuring glucose control in people with diabetes can be challenging if they also have certain blood conditions, such as anaemia and diseases that affect haemoglobin.
Researchers studied the genetics of over 20,000 people to understand what might influence fructosamine levels, a possible alternative way to measure blood glucose control in patents where the standard way is less effective.
The researchers showed that the variation in fructosamine levels between people is only weakly related to genetics, and most of the differences are due to environmental factors, such as diet.
Uniting cohorts to maximise their impact
The National Multi-omics Consortium brought together nine existing and unique data assets to boost their potential to make discoveries that improve patients' lives:
If you missed it, you can catch up with the National Multi-omics Consortium Insights Day on YouTube.
What role has the discovery of DNA and the Human Genome Project played in your research? Tell us about your work! #DNADay23
Parmesh Mistry Ugochukwu Ejiegbu