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:10/13/2017)... ... ... Global Healthcare Management’s 4th Annual Kids Fun Run brought out many kids ... sponsored by Global Healthcare Management’s CEO, Jon Letko, is aimed at getting kids excited ... all ages; it is a non-competitive, non-timed event, which is all about having fun ...
(Date:10/13/2017)... ... 2017 , ... Talented host, actor Rob Lowe, is introducing ... new episode of "Success Files," which is an award-winning educational program broadcasted on ... subject in-depth with passion and integrity. , Sciatica occurs when the sciatic nerve ...
(Date:10/13/2017)... (PRWEB) , ... October 13, 2017 , ... “The Journey: ... faced every danger possible to save lost souls in the Philippines. “The Journey: From ... Carole is a dedicated teacher of the Bible. She has taught all ages and ...
(Date:10/12/2017)... WILMINGTON, Del. (PRWEB) , ... October 12, 2017 ... ... technology and advisory services for healthcare compliance program management, will showcase a range ... and National Association for Assisted Living (NCAL) Convention and Expo to be held ...
(Date:10/12/2017)... ... October 12, 2017 , ... Planet Fitness, one of the ... today its plans to open a flagship location in Covington, LA at 401 N. ... To Go store next to Office Depot in the Holiday Square shopping center. Its ...
Breaking Medicine News(10 mins):
(Date:10/2/2017)... The Rebound mobile app is poised to become a vital ... prescription drug addiction. The app empowers users to develop an ... their dosage in a safe, controlled manner while maximizing well-being. ... 100,000 people to sign up will enjoy 3 months of ... ...
(Date:9/27/2017)...  Commended for their devotion to personalized service, SMP Pharmacy ... one in the South Florida Business Journal,s 50 Fastest-Growing Companies, ... list, the national specialty pharmacy has found its niche.  To ... soon be honored by SFBJ as the 2017 Power Leader ... to receive his award in October, Bardisa said of the ...
(Date:9/25/2017)... 2017  EpiVax, Inc., a leader in the ... today announced the launch of EpiVax Oncology Inc., ... therapeutic cancer vaccines. EpiVax has provided $500,000 in ... enabling technologies to the new precision immunotherapy venture. ... Oncology as Chief Executive Officer. Gad brings over ...
Breaking Medicine Technology: