Dr Gavin Arno
Fight for Sight Senior Research Fellow
Institute of Ophthalmology
Faculty of Brain Sciences
- Joined UCL
- 24th Sep 2012
My current research interests lie in the use of next-generation sequencing (NGS), in particular whole exome and whole genome sequencing (WES and WGS), in the study of Mendelian disease.
Briefly, I lead the analysis and interpretation of WES and WGS data from many hundreds of patients and families with inherited retinal disease (IRD) from numerous projects including large scale national and international studies.
The aims of these studies are multiple, including: discovery of novel disease genes and the ongoing functional studies to characterise these, improving our understanding of non-coding variants and structural rearrangement in Mendelian disease, broadening our knowledge of genotype/phenotype relationships and deciphering the complexities of genetic modifiers.
Importantly, these projects provide a means for patients to obtain a molecular diagnosis, feed our knowledge for diagnostic gene panel development, enable patients to enter therapy trials and lead to new targets for future therapies.
I have very successfully supervised many undergraduate student projects over the years. I have also acted as the sole laboratory supervisor for several successful PhD students. I regularly lecture on courses in ophthalmic genetics and the genetics of retinal disease at the Institute of Ophthalmology and Moorfields Eye Hospital.
I am a scientist with a deep interest in the genetics of Mendelian disease. After gaining my PhD from St George's University of London, I went on to be a post Doc scientist in, and later became the scientific director of, the Sonalee Laboratory for Marfan Syndrome Research, also at St George's.
It was here that I honed my skills in molecular genetic research and developed a passion not only for Mendelian disease research but also for teaching and supervising junior colleagues and both undergraduate and postgraduate students in the laboratory.
Since coming to the UCL Institute of Ophthalmology, Inherited Eye Disease Laboratory, I have gained the skills necessary to lead NGS analysis projects. I work closely with leading world experts, both clinician and scientist, and have developed a deep understanding of retinal physiology and disease to become a key member of several groups leading IRD research in the UK and worldwide.