Exome-sequencing is a method used to analyze the genome, i.e. DNA, of an individual, for the purpose of detecting genetic mutations that may be involved in risk or progression of disease. A mutation means that a variation in the nucleotides – the molecular building blocks of DNA – has occurred. The code for how a protein is to be produced has thereby changed, which can cause its function to change and alter the risk of developing a disease.
“By studying hereditarily transmitted mutations in families, we can understand which causes are genetic, and which are environmental, i.e. due to lifestyle,” says Leif Groop, head of the Lund University Diabetes Centre in Sweden that entered into the agreement with Regeneron.
The collaboration enables mapping the risk variations in the genome of the 9,000 participants of the so-called Botnia study. The participants are people with diabetes and their relatives, and include 1,400 families in Finland and southern Sweden. The Botnia study is one of the largest of its kind in the world.
The Finnish population is special in that it is fairly homogenous, genetically speaking – an advantage when it comes to genetic studies.
The sequencing and genotyping will be performed by the RGC, a wholly-owned subsidiary of Regeneron Pharmaceuticals, Inc., located in Tarrytown, New York. The complex analyses will be performed jointly by researchers at the RGC, Lund University and the University of Helsinki, who want to find out which mutations are linked to different conditions related to diabetes, such as insulin sensitivity.
“The Botnia study is among the best and most well-characterised cohorts in the world with regard to diabetes and diabetes-related traits, and we are thrilled to be working with Dr. Groop and this research team to apply leading-edge genomic approaches to better understand this pervasive disease, which imparts major morbidity and mortality in Finland and world-wide,” said Alan Shuldiner, M.D., and Aris Baras, M.D., Co-Heads of the Regeneron Genetics Center.
“If we can understand the cause, we can study the molecular mechanism behind the disease, which would enable the development of new drugs to treat it,” says Nikolay Oskolkov, researcher at the Lund University Diabetes Centre.
