Dr Leon Chang

Profile

I am currently a postdoctoral research fellow funded by The Kennedy Trust for Rheumotology Research. My main focus is to investigate the role of post-zygotic, somatic mutations in the pathogenesis of various immune-mediated inflammatory diseases and their influence on response to treatment. This typically involves analysing next generation sequencing data and utilising bioinformatic resources to identify variants of interest for further functional research.

Prior to my current post, I worked within the NHS as a HCPC registered Biomedical Scientist at York District Hospital. In 2016, I decided to pursue a career in medical research and was awarded a PhD studentship at the University of Leeds, focusing on the transcriptomic and metabolic changes associated with Malignant Hyperthermia, a pharmacogenetic condition of skeletal muscle. Upon completing my PhD, I briefly returned to work for the NHS, supporting the laboratories over the COVID pandemic before returning to my academic career as a research fellow.

Research interests

Immune-mediated inflammatory disorders

My main research interest surrounds the genetics causes of immune-mediated inflammatory disorders (IMIDs) – in particular the role of somatic mutations. IMIDs are range of conditions caused by an individuals’ own immune system attacking various body parts including joints and soft tissues. Over the last two decades, novel biological therapies have transformed the treatment of these conditions. Nevertheless, it is still rare for patients to be cured of the disease, and many do not achieve disease-free status despite being on treatment.The role of acquired somatic mutation in IMIDs is an emerging field, a example being the autoinflammatory condition VEXAS, which was recently discovered to be caused by somatic variants in UBA1. Individuals suffering from the same IMID may have different underlying causes of disease which require more personalised approaches to treatment. My research involves applying modern genetic techniques and analysis pipelines to explore genetic changes which may contribute to the pathogenesis of different IMIDs.

Inherited Retinal Dystrophies

I have previously worked on the genetic causes of retinal dystrophies, in particular those that cause Retinitis Pigmentosa (RP). RP refers to a group of rare genetic eye diseases that cause deterioration of the retina, resulting in vision loss. RP is often early onset and symptoms typically include loss of peripheral and night vision, and may include sensitivity to bright light and loss of colour vision. I have adopted long-read sequencing strategies to confirm disease haplotypes within families and screen opthalmology patients within Leeds for potential causative mutations.

Malignant Hyperthermia and related conditions

I maintain collaborations with the Leeds MH Unit to aid their research in Malignant Hyperthermia (MH) and related skeletal muscle conditions such as Exertional Heat Illness. My research in this area involved RNA-sequencing to identify differential gene expression associated with MH susceptibility, and conducting functional assessment of MH susceptible mitochondria to identify metabolic defects in skeletal muscle.

Other activities

I also contribute as a journal reviewer for Infection, Genetics and Evolution.

Qualifications

• PhD in Genetics and Molecular Biology, University of Leeds
• BSc (Hons) Biomedical Sciences; First Class, Lancaster University