Understanding retinal eye diseases with retinal transcriptomic data analysis

Understanding retinal eye diseases with retinal transcriptomic data analysis

Project details

Age-related macular degeneration (AMD) and macular telangiectasia Type II (MacTel) are retinal eye disorders. More than 30 genetic loci influencing disease risk have now been identified, mainly via genome-wide association studies (Fritsche, Nat Genet 2015 48(20):134).  

We identified the first loci associated with MacTel (Scerri, Nat Genet 2017 49(4):559) and showed that energy metabolism is altered in people at risk of MacTel. We continue to work on this disorder as part of the MacTel consortium, with a focus on energy metabolism in the retina. 

This project uses genome-wide approaches to understand how genetic variants influence retinal transcription, providing insights into retinal biology and the development of MacTel and AMD. Strong data analysis skills and programming experience are required, along with an interest in eye disorders. 

About our research group

The Bahlo laboratory is a statistical genetics/bioinformatics lab working on the understanding of the genetic causes of disease. The laboratory is highly collaborative, with six postdocs, one research assistant, two PhD students and two Masters students. It has a strong interest in statistical and population genomics and transcriptomic analysis. Statistical methods and accompanying software are developed as part of this work (see https://github.com/bahlolab and Freytag, Genom Med 2017 9(1):55 and Henden, PLOS Genet 2018 14(5):e1007279). The laboratory works closely with geneticists and clinicians and has well-established collaborations with neurologists, ophthalmologists and immunologists, which have led to the discovery of more than 10 novel epilepsy genes, as well as genes for MacTel, ataxias and other neurological disorders, and new insights into malaria drug resistance. 



Professor Melanie Bahlo

Photo of Professor Melanie Bahlo
Laboratory Head; Leader, Healthy Development and Ageing Theme
Dr Brendan Ansell
Population Health and Immunity division

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