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BSc, MSc, PhD
BSc, MSc, PhD
Postdoctoral Research Fellow
Francis Crick Institute, London, UK
UCL Institute of Ophthalmology, London, UK
I am postdoctoral research fellow at UCL Institute of Ophthalmology and at Francis Crick Institute (London, UK) in Ocular genomics and Therapeutics Laboratory, directed by Pr Mariya Moosajee.
I am interested to understand why some people are affected with genetic disorders, especially inherited retinal diseases.
Inherited retinal diseases affect one person per 4.000 births worlwide and are the commonest cause of blindness. Around 40% of patients lack genetic diagnostic.
I want to identify disease-causing variant(s) in known and in candidate genes associated with these disorders to improve patients' life. By the identification of these variants and/or novel genes, I want to understand physiopathological mechanisms associated with these disorders and consequently identify pivot protein(s) which could be interesting target(s) for therapies.
Research Projects
Research Projects
Inherited retinal diseases
Inherited retinal diseases
Inherited retinal diseases are a heterogeneous group of disorders, genetically and clinically: autosomal dominant, autosomal recessive, X-linked, mitochondrial; stationary or progressive.
Amongst progressive retinal diseases, rod-cone dystrophy or retinitis pigmentosa is characterised by a tunnel vision while cone/cone-rod dystrophy is characterised by central vision loss and color defects.
Find the genetic cause(s)
Find the genetic cause(s)
More than 300 genes are associated with inherited retinal diseases and genetic causes are identified in 60 to 70% of cases. However, less than 40% of cases remain unsolved.
Next-generation sequencing, such as targeted, whole exome and whole genome sequencing, is a powerful method to identify genetic cause(s).
During my PhD, I studied 43 unrelated families with at least one affected member and identified variants in known or candidate genes in 14 unrelated families by analysing whole exome sequencing data. I also reported novel phenotype-genotype correlation.
Model diseases
Model diseases
Among genes associated with inherited retinal disease, RDH12 encodes a protein involved in vision cycle, in photoreceptor cells. Mutations in RDH12 lead to autosomal recessive early-onset rod-cone dystrophy and rarely to autosomal dominant late-onset rod-cone dystrophy.
In my current position, induced pluripotent stem cells were obtained from patients affected with autosomal recessive and autosomal dominant RDH12-related diseases and were differentiated into retinal organoids. Affected pathways will be revealed by RNA sequencing on mature organoids and will help to understand physiopathological mechanisms associated with RDH12-related diseases.
Today, RDH12-related diseases are incurable. I will screen several drugs on retinal organoid models to identify the best candidate drug to treat these disorders.
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