Lund University in Sweden has entered into a collaboration with the Regeneron Genetics Center LLC (RGC) and the University of Helsinki involving exome-sequencing and whole genome array genotyping of greater than 9,000 individuals. The collaboration will involve the largest sequencing study in diabetes families to date and aims to help generate knowledge about how to predict diabetes, causes of disease and drug discovery targets.
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.
Diabetes includes several diseases, of which 90 percent is comprised by type 2 diabetes. As a result of elevated blood sugar levels, the disease leads to complications in the form of vision impairments and damage to the kidneys, blood vessels and nervous system. These complications involve major costs to the healthcare system.
The cause of the disease is a mixture of genetics and lifestyle choices.
Today, approximately 250 million people worldwide suffer from diabetes, and this number is estimated to increase to approximately 400 million in 2025.
For more information:
Leif Groop, professor and coordinator Lund University Diabetes Centre
Phone: +46 40 391202, +46 705-912548
International press officer
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