Email: c.johnson@leeds.ac.uk

Research profile and key clinical specialties

My team works on gene discovery and functional characterization of autosomal recessive inherited disorders such as myopathies, neuromuscular and neurodevelopmental conditions, with a particular interest in ciliopathies.

These disorders are a major cause of childhood morbidity and mortality, and there is an essential need to improve their diagnosis and clinical management.

Our research aims to gain new insights into the molecular mechanisms of early embryogenesis, neurodevelopment and disease processes. These insights may enable the development of new treatments for patients with rare recessive disorders that modify disease progression or their long-term outlook.

Current research, funded by the Medical Research Council and British Heart Foundation, focuses on the genetics and molecular cell biology of ciliopathies and congenital heart anomalies.

We use advanced techniques in molecular genetics, functional genomics and systems biology, and imaging methods such as high content imaging and super resolution microscopy.

I have successfully supervised 24 PhD students, including six clinical research fellows.

Two key publications

• Cuvertino S, Hartill V, Colyer A, …27 others …, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S (2020). A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet Med. 22:867-877. doi: 10.1038/s41436-019-0743-3
• Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Genomics England Research Consortium, Toomes C, Inglehearn CF, Johnson CA*, Wheway G* (2021). Molecular diagnoses in the Congenital Malformations caused by Ciliopathies Cohort of the 100,000 Genomes Project. J Med Genet in press (* joint corresponding authors)

Possible PhD projects

• Gene discovery and functional characterization of novel inherited myopathies and neuromuscular and congenital heart anomalies.

More information

I’ve been an active PhD supervisor for 18 years. All of the PhD students and clinical research fellows that I have appointed and trained over the years have achieved success in biomedical research.

——————–

Keywords: Heart, Autosomal Myopathies, Neuromuscular, Neurodevelopmental, Ciliopathies, Morbidity, Mortality, Embryogenesis, Neurodevelopment, Ciliopathies, Congenital Heart, Malformations, Colin, Johnson, Leeds

Related