Clinical geneticist Zosia Miedzybrodzka's pioneering work on clubfoot has seen her honoured for "excellence in medical research" by the children's medical research charity Sparks.
Dr Miedzybrodzka, leader of Aberdeen University's medical genetics group, has won more than £400,000 in three grants from Sparks, the latest worth £160,000. She and epidemiologist Linda Sharp last year showed that part of the cause of the condition may be variation in a gene that processes folate in the body. Only one other group, in the US, is investigating the genetics of the condition.
Dr Miedzybrodzka is carrying out by far the largest study in the world, using a unique resource of DNA and patient information from more than 1,000 families in the UK, the Netherlands and the Pacific archipelago of Vanuatu.
The prevalence of clubfoot, affecting about one in 500 babies, is comparable to that of facial clefts, which is researched by more than 100 groups. "It is a huge boost to know that one of our main funders appreciates the work we are doing," Dr Miedzybrodzka said.
She said the lack of work on clubfoot was because orthopaedic surgeons had traditionally not been strongly involved in research and because clubfoot was considered "fixable" and therefore did not need more money spent on it.
Treatments have included surgery, or putting the foot in a cast, followed by wearing restrictive and uncomfortable ankle boots.
"We know from many people that it isn't fixed," she said. "The distress it causes is underestimated."