An Irish research scientist, Dr Therese Tuohy, has been awarded the 1999 post-doctoral basic research prize by the American Society of Human Genetics at its 49th annual meeting in San Francisco, California.
The society, with a membership of more than 6,700 scientists from around the world, concluded its four-day meeting late last month after more than 3,000 scientific presentations. Dr Tuohy, a graduate of the genetics department at Trinity College Dublin, was one of five scientists chosen by an award panel to present their research. Dr Tuohy's work on colorectal cancer, a leading cause of cancer deaths in the Western world, focused on the role of tumour suppressor genes, specifically the adenomatous polyposis coli (APC) gene.
In a small proportion of colorectal cancer patients, the cancer is inherited with an incidence of one in 8,000. Most families have a severe form of the disease; however, a small number exhibit a milder variant. Dr Tuohy was able to uncover a cellular trick in the milder form whereby the effect of the mutated gene is ameliorated.
This trick is brought about when the cell ignores the mutation as if it was a bad spelling, and starts a fresh sentence. With respect to the APC gene, "spelling errors" at the beginning of the gene appear to be more severe than in the middle or at the end. It is hoped that by understanding more of the details in the subtle differences between severe and mild forms suitable therapies may emerge. Dr Tuohy is a post-doctoral researcher at the University of Cincinnati College of Medicine, Ohio.