Navigation Links
First Pathfinder Awards announced tackling rare and orphan diseases

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
Wellcome Trust

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:
(Date:6/25/2016)... ... ... As a lifelong Southern Californian, Dr. Omkar Marathe earned his Bachelors in ... School of Medicine at UCLA. He trained in Internal Medicine at Scripps Green Hospital ... at the UCLA-Olive View-Cedars Sinai program where he had the opportunity to train in ...
(Date:6/24/2016)... ... June 24, 2016 , ... A recent article published June ... with. The article goes on to state that individuals are now more comfortable seeking ... common operations such as calf and cheek reduction. The Los Angeles area medical group, ...
(Date:6/24/2016)... Texas (PRWEB) , ... June 24, 2016 , ... ... International Conference and Scientific Sessions in Dallas that it will receive two significant ... of the grants came as PHA marked its 25th anniversary by recognizing patients, ...
(Date:6/24/2016)... ... ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief Products, join The ‘Business for ... $12 an hour by 2020 and then adjusting it yearly to increase at the same ... wage, assure the wage floor does not erode again, and make future increases more predictable. ...
(Date:6/24/2016)... ... June 24, 2016 , ... Puradigm® & Innovative Solutions ... initiated cultivation and processing operations at its production facility, and opened its first ... is the manufacturer of a complete system of proactive air and surface purification ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... The Academy of Managed Care Pharmacy (AMCP) ... would allow biopharmaceutical companies to more easily share health ... and coverage decisions, a move that addresses the growing ... The recommendations address restrictions in the sharing of ... label, a prohibition that hinders decision makers from accessing ...
(Date:6/24/2016)... India , June 24, 2016 ... Needles Market by Type (Standard Pen Needles, Safety Pen ... Therapy (Insulin, GLP-1, Growth Hormone), Mode of Purchase (Retail, ... by MarketsandMarkets, This report studies the market for the ... expected to reach USD 2.81 Billion by 2021 from ...
(Date:6/23/2016)... -- MedSource announced today that it has selected Datatrial,s ... choice.  This latest decision demonstrates MedSource,s commitment to ... by offering a state-of-the-art electronic data capture (EDC) ... the EDC platform of choice in exchange for ... long been a preferred EDC platform by our ...
Breaking Medicine Technology: