The Development, Genetics & Stem Cells Seminar Series 2026

The Development, Genetics & Stem Cell Biology Seminar
Series 2025/2026
When: 18th May 2026, 13:00-14:00
Where: Leolin Price Lecture Theatre (in person only)

Prof Colin Johnson
University of Leeds
 

Kidney disease in ciliopathies: insights from gene discovery and functional genomics
 

Abstract: In my seminar, I will review the medical and molecular genetics of rare ciliopathies,
in the context of gene discovery studies and modern genomic analysis. Taking Meckel-Gruber
syndrome as an exemplar and with a focus on renal cystic disease, I will then highlight
pathomechanisms of ciliopathy disease, drawn from a broad range of mechanistic studies in
my lab that include reverse genetics screens and organoid disease models. Finally, I will
present how these insights have informed more recent studies aimed at early clinical
translation in more common conditions such as polycystic kidney disease, with specific
interests in drug repurposing and delivery of antisense oligonucleotides.
 

Biography: I am a biomedical research scientist of over 30 years’ experience. I trained in
biochemistry but specialised in human molecular genetics and medical genetics in an
academic career at Birmingham (1993-2007) and then Leeds (from 2007). I changed research
fields from 2001, building on new advances in genetics technology and my long-standing
interest in the genetics of rare disorders. In 2009, I won the prestigious Sir Jules Thorn Award
for Biomedical Research, which developed a programme of gene discovery in local families.
This research activity has identified over 65 new disease genes and extended the genotypephenotype
correlations for over 20 conditions. 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 has provided a comprehensive
resource for other researchers in the field. More recent work has combined gene
identification with systems biology, contributing to delineations of structure-function
relationships within the primary cilium and better understanding of therapeutic opportunities.
I am a grant panel member for the medical charity Kidney Research UK and for both NC3Rs
and MRC. I continue to be actively involved in patient-public involvement and engagement
for several medical charities.
 

Host: Prof Hannah Mitchison, Genetics and genomic Medicine