Genetics and Heritability
Our goal is to understand how genetic variation relates to human health and disease and genetics underlies almost all research at the DTR. We have collected genetic information on over 6,000 twins (both monozygotic and dizygotic) using both state of the art genotyping (Illumina platform) and whole genome sequencing (WGS) techniques.
We have collaborated with international research groups to identify genes causing the most common, and sometimes lethal, conditions, such as cardiovascular disease, diabetes, obesity, fractures, and osteoarthritis.
The longitudinal nature of TwinsUK makes it an ideal cohort in which to study the process of ageing. Our ageing research includes normal brain ageing, investigating the genetic and environmental determinants of cognitive decline, and age-related cardiovascular changes such as hypertension. We have also investigated diet and how fast we age by studying telomeres which are markers of our biological clock called.
Much of our research uses omics technologies. Our researchers are utilising metabolomics, glycomics, nutriomics and epigenomics to investigate the causes of common diseases. The microbiome is also a major research focus.
In the last few years, new high-throughput technologies have allowed us to measure metabolites in human plasma, serum and urine and provided a new powerful tool to investigate the cause of common conditions such as cardiovascular disease, diabetes and obesity, and the influence of lifestyle choices such as smoking. To date we have assessed the metabolomic profiles of over 6,000 twins. We are also looking at metabolic markers in our blood to see if we can use these rather than questionnaires to measure what nutrients and vitamins we eat.
We are also comparing our diets with our gut microbiome, the composition of which can determine if we are fat or thin. We have characterised the gut microbiome of our twin volunteers using sequencing of 16s rDNA and entire metagenomes, to understand the role of the microbiome in human health and disease.
Epigenetic mechanisms, such as DNA methylation, can be subject to genetic, environmental and stochastic influences, and can have important downstream effects on the regulation of gene expression, normal development and disease. Our research focuses on the epigenetic basis of human health and disease in twins, as well as on understanding the factors driving epigenetic variation.
We’re working on clinical chronic pain syndromes including musculoskeletal pain such as fibromyalgia, low back pain, and visceral pain including unexplained pelvic pain and irritable bowel syndrome (IBS). Our aim is to identify genetic and epigenetic variants predisposing to pain syndromes and mediating the change from acute to chronic pain.
The Ophthalmology (Eye) Group’s research is focused on the genetics of common age-related eye diseases such as glaucoma, age-related cataract and myopia. By investigating to what extent these diseases are due to genetic factors, and identifying the genes responsible, the group aims to pave the way for the development of new treatments for some of the main causes of vision loss.