The Manchester Rare Conditions Centre which aims to improve the lives of people living with rare conditions and the Geoffrey Jefferson Brain Research Centre recently held a joint workshop to facilitate closer collaboration between our research communities.

Following the workshop we launched a joint pump-priming funding call to support pilot projects focused on rare neurological conditions and we are pleased to announce that two projects have now been selected for funding.

Funded projects

Investigating GBA1/GCase loss of function in Gaucher disease

This collaborative project will explore mechanisms underlying disease, bringing together complementary expertise across teams. Led by Professor Tristan McKay, the project will expand on new knowledge of how Gaucher disease can affect the developing brain. In collaboration with Dr Paul Kasher, they will test their hypothesis using a zebrafish neurodevelopmental model.

Using proteomics to determine the effects of eIF5A1 mutation on the abundance of poly-proline rich proteins in FABAS patient cell lines

Led by Dr Paul Kasher, this project will use advanced proteomics approaches to better understand the impact of genetic mutations in an ultra-rare neurodevelopmental condition known as Faundes-Banka syndrome. This work will provide important new insight into the molecular basis of the disease.

Supporting early-stage collaboration

A total of £5,000 has been awarded across the two projects, supporting delivery of these early-stage studies and helping the teams to build the evidence needed for future funding.

These awards highlight the value of bringing researchers together to share ideas and develop collaborative proposals.

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