Greek born and raised Professor Eleftheria Zeggini from Volos, has just led medical researchers onto the most important breakthrough regarding osteoarthritis so far.

Heading a team of Greek and UK scientists, the multi-awarded Dr Zeggini looked into the genetic background of osteoarthritis, discovering 52 new genes and biological mechanisms associated with the disease which is the leading cause of disability worldwide.

This breakthrough has opened up opportunities for developing new medication that will help treat the common myoskeletal disease and source of chronic pain for millions of people.

In the study, published in the journal ‘Nature Genetics’ researchers analysed the complete genome of a sample of 77,052 people suffering from osteoarthritis juxtaposed to the genome of 378,169 healthy people.

“Osteoarthritis is a very common illness, which causes mobility difficulties and for which there is no cure,” Dr Zeggini noted ion the study.

“We have conducted the largest study of osteoarthritis to date and we have found more than 50 new genetic changes that increase the risk for its occurrence. This is an important step forward with the aim of developing treatments that will help millions of people who suffer.”


Dr Zeggini, who is a Professor of Statistical Genetics at the Wellcome Trust Sanger Institute has dedicated her research to identifying novel complex trait loci by carrying out association studies, to develop analytical tools and to understand the molecular mechanisms underpinning disease pathogenesis and published more than 150 scientific articles with breakthrough discoveries of inherited factors that can predispose obesity, hyperlipidemia, osteoarthritis, diabetes and other major diseases.

Having left Volos, Greece to pursue her studies in biochemistry abroad, she received her B.Sc. from the University of Manchester Institute of Science and Technology (UMIST) in 1999 and then completed her Ph.D. in Immunogenetics of Juvenile Arthritis from the arc Epidemiology Unit of University of Manchester in 2003, followed by a brief statistical genetics post doctorate  on rheumatic disorders at the Centre for Integrated Genomic and Medical Research.

In September of 2006, she was awarded with the Wellcome Trust Research Career Development Fellowship in order to examine design, analysis and interpretation issues in large-scale association studies which led to becoming Group Leader of the Analytical Genomics of Complex Traits group of Wellcome Trust Sanger Institute Faculty two years later. During her tenure, Dr Zeggini focused on the genetics and genomics of complex traits, addressing relevant statistical genetics issues and primarily cardiometabolic and musculoskeletal phenotypes.

Dr Zeggini received the ‘Young Investigator Award’ by the British Society of Rheumatology in 2002 and by the European League Against Rheumatism in 2003. She was awarded the ‘University of Oxford Medical Division Research Prize’ back in 2007 as well as the ‘Rising Star Award’ from the European Association for the Study of Diabetes in 2008. In 2013, Dr Zeggini also received the Honorary Professor title from the Department of Health Sciences of University of Leicester.

In a previous study published in ‘Nature Communications’, she discovered that the residents’ genes of the region of Mylopotamos in the Greek island Crete, have a positive mutation that lowers the triglycerides and increases the good cholesterol in the blood.