Professor Colin A. Johnson

Profile

I joined the University of Leeds as a Reader in November 2006 before being promoted to Professor of Medical & Molecular Genetics in 2010.

I was at the University of Birmingham from 1996 to 2006, first as a Post-Doctoral Research Fellow (1996-2001, training under Bryan Turner), and as Lecturer then Senior Lecturer in Medical Genetics (2001-2006).

I trained under Roger Adams, University of Glasgow, and obtained my PhD (Biochemistry) in 1995. My first degree was BA (Biochemsitry) at the Queen's College, University of Oxford (1988-1992).

Responsibilities

• Institute Lead, Research & Innovation
• Post-graduate Research Tutor

Research interests

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. Since 2011, this research activity has identified over 60 new disease genes and extended the genotype-phenotype correlations for over 20 conditions. The Sir Jules Thorn Award has supported successful research output, attracting follow-on funding, translational benefit for local patients and families and training opportunities for early career researchers. In particular, inherited retinal dystrophies, myopathies, neuromuscular disorders and inherited forms of congenital heart defects have provided rich opportunities for external collaboration, clinical research fellowships and new research projects. In collaboration with the Vision Research Group, we are developing methodologies to interpret variant pathogenicity and cellular disease models using CRISPR-Cas9 genome editing and retinal cell-types derived from induced pluripotent stem cells (iPSCs).

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 and basal body. The aim of this research is to gain novel insights into the molecular mechanisms of cilia formation and the organization of sub-structures within the cilium using functional genomics. 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 particular focus is the role of the ubiquitin-proteasome system in regulating cilia formation. A second recent paper in Nature Cell Biology combined gene identification with systems biology, providing a first delineation of structure-function relationships within the sub-structure of the primary cilium. These two studies have provided the rationale for my future work to explore structure-function relationships within the primary cilium.

My current research builds on my existing expertise in gene discovery, high content imaging and transcriptomics, supported by the infrastructure for bioimaging and bioinformatics at the University of Leeds. In particular, I am developing super-resolution microscopy imaging of the primary cilium using Affimers (a novel artificial binding protein technology developed at the University of Leeds). Reverse genetics, in the form of CRISPR-Cas9 genome editing, is also proving to be a very useful technology for further delineation of functional relationships in cilia, in combination with more conventional approaches using high content imaging. My future research seeks to further characterize new ciliary molecular pathways in human health and disease, and to develop our understanding of the basic biology of primary cilia.

Qualifications

• PhD Biochemistry
• BA (Hons) Biochemistry

Professional memberships

• British Society of Genomic Medicine
• American Society of Human Genetics
• Cilia, editorial board
• Wellcome Trust grant committee membership

Student education

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 Molecular Medicine: seminars, small group teaching and practical classes on human molecular genetics, gene discovery, next-generation sequencing, recessive disease, autozygosity mapping, ciliopathies, neurodevelopment, primary cilia, Wnt signalling, high-content imaging
other contributions on medical and clinical genetics to BA Biology and Biochemistry & Molecular Biology programmes

Research groups and institutes

• Leeds Institute of Medical Research at St James's
• Multidisciplinary Cardiovascular Research Centre

Current postgraduate researchers

• Alice V. R. Lake