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Wrong place, wrong time: protein delivery and macular disease

Dr Linda Troeberg, University of East Anglia - £99,573

Correct protein delivery is necessary for all cells to function efficiently and stay healthy. If proteins aren’t delivered to the right place or in the right amounts, this can lead to cells not functioning properly. This work is focusing on a specific protein called TIMP-3, which is believed to be involved in AMD and Sorsby Fundus Dystrophy (SFD). By understanding how TIMP-3 is delivered around tissue when in healthy and mutated forms, we can better understand the mechanism of these two macular diseases.

New form of gene editing for macular dystrophies

Dr Forbes Manson, University of Manchester - £99,672

This project aims to test whether a new form of gene editing could help those with a macular dystrophy. Current gene editing approaches are looking at fixing or changing a gene mutation, which is very fiddly and will only help a small proportion of patients with that specific mutation.

Mutations in CFI gene: which are harmless or harmful?

Professor David Kavanagh, Newcastle University - £98,506

This project aims to analyse different mutations in the gene CFI, which has been shown to be highly involved in age-related macular disease (AMD). Some mutations have been strongly linked to an increased risk of developing AMD, but some mutations have no effect on your risk.

Investigating the genetics of cone dystrophy

Dr Cristina Martinez Fernandez, John Radcliffe Hospital, Oxford -£24,700

Cone dystrophy is often caused by genetic mutations on a single gene, RPGR (Retinitis pigmentosa GTPase regulator), leading to the loss of central vision by affecting the cone photoreceptors across the retina and around the macula. This condition can significantly impact a person’s ability to perceive color and detail, particularly in bright light conditions.

Using gene therapy to investigate the pathways involved in AMD progression

Dr Ioan Matei, Edgehill University - £24,943

Gene editing is a process by which the structure of a gene can be changed by modifying the DNA sequence. The technique used is called CRISPR Cas-9 and can be thought of as a pair of scissors that can cut out, swap around or add in parts of a gene.

Looking at the connection between proline transport and macular health

Dr David Sauer, University of Oxford - £25,000

Macular health relies heavily on an amino acid called proline. It is a precursor for one of the nutrients that the retinal pigment epithelium (RPE) is responsible for supplying to the photoreceptors of the macula. Proline is transferred using a transporter protein called SIT-1.

Multi-dimensional imaging in early AMD

Dr Richard Unwin, Manchester University -£23,931

Early age-related macular degeneration (AMD) is closely linked to the switching on and off of the part of the immune system called the complement system. This system is genetically influenced and plays a key role in inflammation and defending against bacterial infections.

The impact of misaligned daily light cycles on the development of diabetic retinopathy

Dr Eleni Beli, Queen’s University Belfast - £25,000

Circadian rhythms affect many processes in the eye. This research investigates the link between day length and the development of diabetic retinopathy (DR) by exposing mice to day lengths made artificially either longer or shorter than 24 hours.

The role of the protein ABCC5 in diabetic macular oedema

Prof Heidi de Wet, University of Oxford - £25,000

This research project investigates the protein ABCC5 and its role in diabetic macular oedema (DMO).

The zebrafish’s high-acuity zone as a novel model for the human macula

Dr Takeshi Yoshimatsu, University of Sussex - £25,000

One of the constraints that research into macular disease can come up against is that very few animals have a macula, making it difficult to mimic the human eye.