Fighting Blindness is delighted to announce the success of Dr. Oliver Blacque (UCD) in the latest round of the HRCI-HRB Joint Funding Scheme. Dr. Blacque’s project, which will be co-funded by Fighting Blindness and the Health Research Board (HRB), is titled “Retinal Dystrophy in Ciliopathies (RDCilia): modelling patient mutations to decipher disease mechanisms, interpret Variants of Uncertain Significance, and uncover therapeutics”.
The Joint Funding Scheme is run in partnership with the HRB and Health Research Charities Ireland (HRCI) to offer HRCI member charities, such as Fighting Blindness, the opportunity to co-fund and support research of significant importance to them. A key priority of Fighting Blindness is to promote research to aid diagnosis and development of therapies that are accessible to all patients affected by conditions of vision loss.
The focus of Dr. Blacque’s project will be on retinal dystrophies (RD), which are inherited disorders affecting the light-sensing cells of the eye and lead to progressive vision loss. There is an unmet need for studies to investigate the specific gene mutations found in patients with retinal dystrophies, in terms of understanding if and how they cause disease. Using a leading animal model for RD research, together with advanced genetic tools that can ‘edit’ animal DNA to contain the very same mutations found in patients, Dr Blacque aims to gain a better understanding of the characteristics of patient-specific mutations. Such knowledge will support the molecular diagnosis of patients with mutations that are not clearly understood (i.e. variants of uncertain significance), and provide insight into why different mutations in the same gene can result in different clinical symptoms. The RDCilia project also seeks to discover small molecules that can reverse the effects of damaging mutations in RD genes. Discoveries can therefore open new windows to identify potential treatment options for individuals living with retinal dystrophies.
Dr. Oliver Blacque said:
I am very grateful to Fighting Blindness and the Health Research Board for funding this project. Our ability to readily recapitulate human mutations in animals means that we are now much better placed to understand RD in the context of how it occurs in patients. Furthermore, the engineered animal models will directly benefit patient diagnosis, by determining whether ‘uncertain’ gene mutations are likely to be disease-causing or not.
Anna Moran, interim CEO at Fighting Blindness said:
Since 1983 we have been committed to funding leading research in Ireland, to enhance the global understanding of sight loss. Funding research in public universities ultimately leads to clinical trials and the research and development of treatments and cures which are accessible to everyone affected by sight loss.
We also remember that it is the patient’s hope that is the key driver of our research funding. Dr Blacque’s project carries this hope and expectation, and we are very proud that it has attracted significant funding from the HRCI-HRB Joint Funding Scheme.
Once again, Fighting Blindness wishes to congratulate Dr. Blacque on his achievement. We look forward to seeing this research progress and hearing about the results.