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First Pathfinder Awards announced tackling rare and orphan diseases
Date:9/18/2012

The first two projects to be funded under the Wellcome Trust's new Pathfinder Awards are announced today, tackling rare and orphan diseases for which there are currently no or very limited treatment options.

A team of researchers at Lilly's Surrey based drug discovery research centre has received funding to work in partnership with Professor John Hardy from the Department of Neuroscience at UCL to develop a cell line of human stem cells that can be used to study a rare group of severe neurological disorders that affect children and young adults.

Neurodegeneration with Brain Iron Accumulation (NBIA) is the name used to describe a group of neurological disorders with symptoms that include tremors, sustained muscle contractions and a decline in brain function. A key feature of all of the disorders is the build-up of a particular protein in the brain that is often associated with iron deposition.

A number of genes have been linked to NBIA but the disease mechanisms are poorly understood and there is currently no treatment. The development of an induced pluripotent human stem cell line offers a way to understand the underlying mechanism of NBIA and will accelerate the development of new treatments for these debilitating disorders.

Professor Michael Hutton, Lilly's Chief Scientific Officer for Neurodegenerative Disease commented: "We are extremely excited to be working with Professor Hardy's team at UCL. The new Pathfinder Awards and Lilly's own collaborative approach to innovation are complementary in bringing academia and industry together. This partnership will allow us to generate research tools vital to our understanding of the functional impact of genetic mutations linked to NBIA. We are delighted to have been successful."

The other project to be funded aims to tackle a rare, hereditary metabolic disorder called Homocystinuria, which leaves patients unable to metabolise a particular protein called methionine. A team
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Contact: Jen Middleton
j.middleton@wellcome.ac.uk
44-207-611-7262
Wellcome Trust
Source:Eurekalert

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