+44 (0)113 343 8443
Summary: Group Leader, Ciliopathy Research Group Principal Investigator, International Resource for Autozygosity Mapping
Location: 8.16, Wellcome Trust Brenner Building
Teaching Commitments: MBChB 1st year “Introduction to Medical Science” lectures and small group teaching on clinical and medical genetics MBChB 2nd year “Genetics in Medicine” module, lectures and small group teaching on clinical and medical genetics MSc. Mol. Med. lectures, small group teaching and practical classes on human molecular genetics
In recent years, an ever-increasing number of inherited diseases, of previously unknown aetiology, are caused by defects in primary cilia and basal bodies. The aim of my research is to gain novel insights into the molecular mechanisms of early embryogenesis and neurodevelopment, by elucidating the role of primary ciliary and basal body function with key pathways of development.
Over the past five years, I have developed two successful areas of research. The first area is a long-standing interest in the genetics of rare disorders. In 2011, I won the prestigious Sir Jules Thorn Award for Biomedical Research, which provided research programme-level funding for gene identification in local families. In the years 2011-2016 this research activity has identified over 50 new disease genes and extended the genotype-phenotype correlations for over 15 conditions. This has led to five papers in Nature Genetics and 11 in the American Journal of Human Genetics. The Sir Jules Thorn Award has been an unprecedented success in terms of research output, attracting follow-on funding, translational benefit for local patients and families and training opportunities for early career researchers. In particular, myopathies and neuromuscular disorders, and inherited forms of congenital heart disorders, have provided rich opportunities for external collaboration, new studentships and exciting research projects.
A second research area has developed from my interest in ciliopathies, an important group of developmental disorders that arise from defects in the structure or function of the primary cilium. The cilium is particularly suitable for phenotypic screens of structure and function, and our work led to a seminal paper in Nature Cell Biology that provides a comprehensive resource for other researchers in the field. A second recent paper in Nature Cell Biology combined gene identification with systems biology, and a first delineation of structure-function relationships within the ultrastructure of the primary cilium. These two studies have provided the rationale for our future work to explore structure-function relationships within the primary cilium. Our research builds on my existing expertise in gene discovery, high content imaging and transcriptomics, as well as expertise in imaging and bioinformatics at the University of Leeds.