Navigation Links
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 of researchers at Pfizer will work with Dr Wyatt Yue at the Structural Genomics Consortium at the University of Oxford to investigate methods of restoring normal metabolism and preventing the progression of the disease. The team will study the enzyme that is affected by the disease and investigate ways to restore its function.

Homocystinuria manifests itself in childhood with both physical and mental defects and there is currently no cure. Therapy involves strict dietary management, however, not all patients are responsive to treatment and therapy is not often available outside of major academic institutions.

Kevin Lee, Chief Scientific Officer and head of Pfizer's Rare Diseases Research Unit, said: "Homocystinuria is a severe condition that affects approximately one in 300,000 births, though recent research suggests the condition is significantly under-diagnosed. Pfizer is honoured to receive this award and to be working alongside Dr Yue and his team to progress research in this area of unmet medical need. This collaboration underlines our commitment to the rare disease area and our strategy to partner with leading groups in innovative ways."

Ted Bianco, Director of Technology Transfer at the Wellcome Trust, said: "Orphan and neglected diseases present a huge challenge and we believe that successful collaborations between academia and industry will be vital for finding new treatments and diagnostics. This is a key priority for the Pathfinder Awards and we are delighted that the first two projects to be supported under the scheme will foster such exciting cross-sectoral collaborations."


'/>"/>

Contact: Jen Middleton
j.middleton@wellcome.ac.uk
44-207-611-7262
Wellcome Trust
Source:Eurekalert

Related medicine news :

1. JDRF announces winners of first phase of Agnes Varis Glucose-Responsive Insulin Challenge
2. CRF announces late breaking trials and first report investigations to be presented at TCT 2012
3. Three Penn State research pioneers among first Golden Goose honorees
4. Eight scientists honored in first annual Golden Goose Awards
5. First comprehensive review of European breast cancer screening programs finds benefits outweigh harm
6. First pediatric study to look at the role of vitamin D in critical illness
7. Researchers find first evidence for a genetic cause for Barretts esophagus
8. London Olympics anti-doping labs set for first-of-a-kind repurposing
9. First validated method for analyzing flavanols and procyanidins in cocoa products could help scientists and the industry in standardized reporting
10. NIH scientists map first steps in flu antibody development
11. Likely voters say presidents first 100 days in office should include plans for research
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/6/2016)... ... , ... The joy associated with Mother’s Day is mixed with worry and fear for new ... across the country. For the first time ever, the March of Dimes and ... their Mother’s Day beside a crib surrounded by lifesaving equipment or peering through a glass ...
(Date:5/6/2016)... ... May 06, 2016 , ... A wide variety of national pet product manufacturers, companies ... and Safety Media Showcase Wednesday, May 18 from noon to 8 p.m. at New York ... peek at new and established home, garden, outdoor and safety pet products in today’s marketplace. ...
(Date:5/6/2016)... Milford, PA (PRWEB) , ... May 06, 2016 ... ... CoolSculpting does to reduce fat areas around the body, is the most ... The survey results just released make perfect sense to cosmetic surgeon Dr. Richard ...
(Date:5/6/2016)... ... ... From May 4 to 6, EarQ and Signia co-sponsored a ... more about Signia’s technology and the successful business and marketing techniques that make EarQ ... practices succeed in this highly competitive industry,” said Ed Keller, president of EarQ. “This ...
(Date:5/6/2016)... ... May 06, 2016 , ... The International Yoga Teacher Training schoo ... the island close to the town famous for its sunsets, Oia. This all inclusive ... continue to have an amazing experience in Greece, we just can’t stay away” says ...
Breaking Medicine News(10 mins):
(Date:5/4/2016)... ZIONA, Israel , May 4, 2016 ... BVXV) announced today that BiondVax,s CEO, Dr. Ron Babecoff ... in New York City . ... 10:30am at Pioneers 2016, a conference presented by Joseph ... Palace Hotel. The BiondVax presentation that Dr. Babecoff ...
(Date:5/4/2016)... , May 4, 2016 ... of the  "Global Multiple Myeloma Market and ... their offering.       (Logo: ... Market and Competitive Landscape Highlights 2016, provides ... Multiple Myeloma epidemiology, Multiple Myeloma market valuations ...
(Date:5/3/2016)... May 4, 2016 Global ... pages, profiling 09 key companies and supported with ... and in-depth study on the current state of ... of the industry including definitions, classifications, applications and ... is provided for the international market including development ...
Breaking Medicine Technology: