Common Disease Genetics and Genomics

Using full human genetic information in research and health care settings 

Our day to day research involves using large scale human data to identify the genetic causes of common diseases. We then work closely with other scientists, clinicians and patients to understand and apply our findings to help improve people's health. We are fortunate to be working in a fast moving and exciting field of science. This excitement comes from the increasing quantity of genome wide sequence data available at population scale and its linkage to a huge amount of information relevant to people's health. The genetic data includes information from more than a billion DNA sequence variants. The health information includes that from 100,000s to millions of people attending research studies, consenting to allow their medical records to be used for research and in some studies, from their non medical data such as that from smart phones.  

To help address these challenges and opportunities, we adopt a team science and Agile approach to our research, led by Aurélie (see Team Science page). 

Obesity and its causes and consequences in the general population.   

We are open to collaboration for a wide range of human genetics projects. However, the team’s broad disease focus is metabolic disease, notably the causes and consequences of excess weight. For the first time in human history, people will be living into old age having spent their whole adult lives overweight. In groups under-represented in genetic studies, such as people living in developing countries, the prevalence and impact of obesity is increasing. The consequences on health and social care are profound and go beyond type 2 diabetes and other metabolic diseases and include Musculo-skeletal disease and cancer. In parallel, new therapies will provide us with the opportunity to study at scale why some people are better able to lose weight compared to others, given certain interventions such as the use of anti-diabetic incretin based drugs for many people living with excess weight.  

Type 1 Diabetes 

Lauric leads a specific research programme in type  1 diabetes. Typically, signs of this condition can appear early in life, but predicting when clinical symptoms will emerge is challenging. Some children may develop symptoms within weeks, while for others, it may take decades. One of the most concerning aspects of T1D onset is the potential for a dangerous condition called ketoacidosis, particularly in very young children. Ketoacidosis can be life-threatening and difficult to treat, making early detection crucial for effective management. To address these challenges, our project aim to leverage genetic information which inform the risk of children for accurately and cost-effectively estimating the risk of future T1D in high-risk children.