Four in every 10,000 cases of blindness amongst children are caused by faulty genes preventing normal eye development during pregnancy. We can only diagnose the underlying genetic cause in approximately 20% of these children, which suggests there are many more undiscovered genes that control healthy eye development.

The challenge

Genes control our development but some mutations – errors in the genes - prevent them from working correctly resulting in congenital disorders including anophthalmia (absent eyes) and microphthalmia (small eyes).

The mechanism of human and zebrafish eye development is very similar down to the same genetic checkpoints. Therefore, studying how fish eyes develop could inform understanding of human development.

The person

Dr Rodrigo Young has a keen interest in genetics and how the eye develops. His programme of research aims to identify genes that play key roles in eye formation by combining research in zebrafish with the genetic analysis of patients with developmental eye globe defects such as anophthalmia and microphthalmia, and recently identified new genes that cause globe eye defects in zebrafish.

With support from a charity Career Development Award, Rodrigo can make further progress and investigate whether the same genes play a role in human disease will be determined by searching the data in the Genomics England 100K genomes project database. He will then focus on how mutations identified in these gene cause abnormal eye development in real time zebrafish model.

The potential

In children with congenital disorders, often the eye malformations are the first evidence of a syndromic condition meaning specialised, cross-disciplinary care is needed to treat the associated risks.

Therefore, early genetic diagnosis could help reduce morbidity and enhance supportive treatment, providing significant health and economic benefits.

The security of short term funding through this grant means Rodrigo can focus on expanding his research programme and generate the data needed to secure competitive fellowships to support him in the next stage of his career. This will also unpin longer term research goals to identify new genetic causes of abnormal eye development with the potential to enhance genetic counselling for the affected families and aid finding therapeutic and preventive treatments.

It’s been a massive privilege and honour to be supported by a Moorfields Eye Charity Career Development Award. This fellowship has enabled me to fully focus on researching the genetics of eye development as well as offering the next steps in my career. During this project I have found new potential mutations in interesting genes related to patients with eye malformations. Eventually, understanding these new mutations may contribute to enhancing patients’ genetic diagnosis.

Dr Rodrigo Young

Project Details

Funding scheme

Career development award

Grant holder

Dr Rodrigo Young

Area(s) of work

Genetics/​inherited eye disorders, Paediatrics

Award level

£108,194

Start date

May 2020

Grant reference

GR001155