University of Edinburgh

Academic Institute

OFHS250068

The overall aim of this study is to use a new method that we have developed to identify core genes that directly cause disease. We shall focus initially on diseases in which the body's immune system, which protects against infection, causes inflammation. These diseases include type 1 diabetes and multiple sclerosis. Each gene provides instructions for making a protein, so discovering a gene that causes disease can lay the basis for developing drugs that act on the protein to treat the disease caused by that gene. Because the Our Future Health biobank has samples from millions of people, we can study rare diseases that affect fewer than one person in a thousand. The human genome is made up of about 3 billion letters, and some of these letters differ from person to person. These differences can affect our risk of developing diseases. When scientists first mapped the human genome in 2000, they hoped it would quickly lead to new treatments for conditions like diabetes, arthritis, and cancer. Twenty-five years later, progress has been slower than expected. One reason may be that researchers have been looking in the wrong place. Most studies focus on genes near the DNA changes linked to disease risk. But nearby genes often don’t cause disease directly—they influence other genes far away that do. We have developed a new approach that allows us to uncover these “core genes” that truly drive disease. Each gene makes a protein, and if a protein is proven to cause disease, it could become a target for new drugs. Using our new approach we have identified core genes for autoimmune diseases like type 1 diabetes and rheumatoid arthritis. Next, we’ll apply it to rare immune disorders and conditions such as cardiovascular and neurological diseases. This work could lead to better treatments and help identify people with increased risk who may need early treatment.

Our research will benefit the public by speeding up the discovery of new treatments for diseases. These treatments are expected to be safer and more effective than existing treatments because they will act on the pathways that cause disease. Specifically, our research will identify: * Opportunities for re-purposing drugs originally developed for treatment of other diseases. For instance, our research so far has shown that a class of drugs called PD-1 agonists, which have been found to be safe and effective in rheumatoid arthritis, are likely to be effective in some other autoimmune diseases such as type 1 diabetes. * Proteins that are promising drug targets, against which new drugs can be developed. * Opportunities for testing new treatments such as nutritional interventions. For instance, our research has shown that reduced activity of a pathway which maintains the barrier to microbes in the bowel has a key role in inflammatory bowel disease; there are possibilities for increasing the activity of this pathway by nutritional supplementation. By speeding up the discovery of new drugs and by reducing the risk that drugs will fail when tested in patients, our research will also help to bring down the cost of new drugs.

Public Health Research

16/04/2026

28/01/2026

TRE