Tayfun Özçelik's Research Featured on Stanford's "Discovery Walk"

The story of the discovery of the SNRPN gene in the Prader-Willi syndrome critical region, first published in Nature Genetics in 1992, has been given a place on Stanford University's "Discovery Walk." The research was carried out by Dean of the Faculty of Science Prof. Tayfun Özçelik and his mentor Prof. Uta Francke, now the senior medical director of the leading DNA-based genome analysis company 23andMe, and an active professor emeritus at Stanford University.

"Discovery Walk" is an outdoor art installation, a promenade that encompasses the main entrance of the Stanford University medical school campus. It commemorates major advances in medical science over the last 150 years and embraces history through stories of medical research in words and images, all etched on 347 black granite panels that line a series of 22 benches along the walkway. The first five benches depict the history of the medical school, followed by discoveries made by scientists at Stanford and elsewhere. Sequencing of the genome, the discovery of stem cells, identification of tumor suppressor genes and oncogenes, optogenetics, the pioneering first images of an fMRI scan of a brain, the double helix structure of DNA, the development of the linear accelerator to treat cancer, cardiovascular diseases and transplantation are among the subjects that are covered on the 50-by-75 cm black granite panels from a mountaintop quarry in Mongolia. The SNRPN and Prader-Willi syndrome story is included in the section on neurogenetics (http://med.stanford.edu/ism/2012/april/artwalk-0423.html).

Prof. Özçelik did postgraduate work with Prof. Francke at Yale and Stanford in the late 1980s and early 1990s. Together, they mapped more than 40 genes to human and mouse chromosomes, and identified the genes involved in Prader-Willi syndrome and Charcot-Marie-Tooth disease type IA. The account of the mapping of the SNRPN gene to human and mouse chromosomes, which led to the identification in the first expressed gene in the Prader-Willi Syndrome critical region, was declared by Nature Genetics to be the most important story of progress it published in 1992. In the following years, Professors Francke and Özçelik both remained active in genetic mapping studies, and while Professor Francke demonstrated the value of using chromosomal analyses, molecular studies and mouse models to advance the understanding of other types of human genetic diseases such as Marfan, Rett, Williams and Wiskott-Aldrich syndromes, Professor Özçelik concentrated on the consanguinity-based dissection of complex phenotypes in humans, identified the genes associated with quadrupedal locomotion (Uner Tan syndrome) and childhood hematological malignancies, and described the link between X-chromosome inactivation and female predisposition to autoimmune disorders such as scleroderma, juvenile idiopathic arthritis and autoimmune thyroid disorders.