Dr Leon Chang

Dr Leon Chang

Profile

I am currently conducting research on inherited retinal diseases as a member of the UK Inherited Retinal Dystrophy Consortium. In particular, I am focusing on the genetic mutations that cause Retinitis Pigmentosa in UK families. This research is funded by Retina UK, and involves a combination of molecular genetics and bioinformatic approaches to explore mutations of interest.

Prior to my current post, I completed a four year degree in Biomedical Science at Lancaster University with a placement in Furness General Hospital. I then worked for two years within the NHS as a HCPC registered Biomedical Scientist at York District Hospital specialising in Clinical Microbiology. 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 returned to work for the NHS, supporting the laboratories over the COVID pandemic before returning to my academic career in research.

Research interests

Inherited Retinal Dystrophies

I am interested in 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 currently adopt 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 involves 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