Navigation Links
Eliminating rare diseases
Date:1/24/2013

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

Rare diseases while individually uncommon affect one person in every 17. 80% of rare diseases have a genetic component, and they include genetic kidney diseases like nephrotic syndrome and conditions like Huntington's disease, ataxia and muscular dystrophy.

Today, the EU has announced 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects. This will lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases.

The revolution in DNA sequencing, which means an entire human genome can now be sequenced within days and for less than 10,000 Euro, has brought the hope of personalized treatments for many of these diseases a step closer.

Professor Hanns Lochmller of Newcastle University, UK, who is leading the new rare disease hub, said: "Being able to sequence a person's entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story. It doesn't replace clinical expertise in fact, being able to combine genetic data with clinical data is more important than ever."

Dr Sgolne Aym, Emeritus Director of Research at INSERM, the French Institute of Health and Medical Research, added: "Sequencing produces a vast amount of information, but in most cases it will find hundreds of genetic changes in each person. We now need to collate the data internationally to discover which change or combination of changes actually causes the disease."

The Internation
'/>"/>

Contact: Karen Bidewell
press.office@ncl.ac.uk
44-019-122-27850
Newcastle University
Source:Eurekalert

Page: 1 2 3 4 5

Related biology news :

1. Eliminating useless information important to learning, making new memories
2. An error-eliminating fix overcomes big problem in 3rd-gen genome sequencing
3. Immune cell death defects linked to autoimmune diseases
4. Stem cell materials could boost research into key diseases
5. The findings between DNMs and autism provides global view of mutability on human diseases
6. Transplanted genetically-modified adipose cells offer potential therapy for liver diseases
7. Removing protein garbage in nerve cells may help control 2 neurodegenerative diseases
8. Short DNA strands in the genome may be key to understanding human cognition and diseases
9. Scientists question the designation of some emerging diseases
10. Call for global monitoring of infectious diseases in dogs and cats
11. Action needed to prevent more devastating tree diseases entering the UK
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/21/2015)... 2015 According to a ... (Hardware, Software, Services), by Applications (Surveillance (Airborne, Maritime, ... End-Users (Military & Defense & Commercial) - Global ... Market is expected to grow from $7252.0 Million ... a Compound Annual Growth Rate (CAGR) of 6.6%. ...
(Date:5/19/2015)... 19, 2015  Technology is rapidly advancing, outpacing enterprises, ... the cloud. Passwords and their management are soon to ... standards-based specifications such as those developed by the FIDO ... passwords presents for BYOD, COPE, IoT, and mobile payments, ... protocol. In response to the call ...
(Date:5/11/2015)... May 11, 2015  Synaptics Incorporated (NASDAQ: ... solutions, today announced the appointment of Wajid ... Financial Officer, reporting to Rick Bergman , ... Chief Financial Officer, Kathleen Bayless , who ... Mr. Ali brings extensive financial management expertise ...
Breaking Biology News(10 mins):Thermal Imaging Market Worth $9,998.9 Million by 2020 2Thermal Imaging Market Worth $9,998.9 Million by 2020 3Thermal Imaging Market Worth $9,998.9 Million by 2020 4HYPR Corp. Biometric Security Integration Kit Shields Applications and Devices Across the Internet of Things 2HYPR Corp. Biometric Security Integration Kit Shields Applications and Devices Across the Internet of Things 3Synaptics Appoints Wajid Ali as Senior Vice President and Chief Financial Officer 2
... will receive a $900,000 check from Donald S. ... Region III which includes Pennsylvania, Virginia, Maryland, ... for continued research and education in the ... and underused industrial or commercial properties. The money, ...
... plant-eating predators to fight a superweed spreading throughout Britain ... a world expert on Japanese knotweed at the University ... of Biology has been researching the invasive weed since ... Hollingsworth and Catherine Pashley. Research in the ...
... Latest Generation of Mobile Data Software, WALL, ... Board: BKYI), a leader in finger-based biometric,identification and ... public safety software and related services orders that,closed ... 2008. Approximately fifty percent,of third quarter orders were ...
Cached Biology News:'Plant-eating predator to fight superweed is not magic bullet' 2BIO-key(R) Announces Additional $245,000 in Third Quarter Public Safety Orders 2BIO-key(R) Announces Additional $245,000 in Third Quarter Public Safety Orders 3
(Date:5/21/2015)... Patent Offering, The patent’s technology pertains ... therapeutic imaging within a body lumen (open space). ... a low cost, single-use disposable illumination and camera module ... 18, 2013 and the patent approval was received on ... to customize the lighting and magnification of the endoscope ...
(Date:5/21/2015)... 20, 2015 Research and Markets ... the "2015 Global Survey on Flow Cytometry ... The primary goal of this research is ... and reagents. Key information the survey seeks to ... flow cytometers, predominantly used applications for flow cytometers, ...
(Date:5/21/2015)... 2015 Tunnell Consulting, Inc. ... as senior statistician and Principal, a position to which ... the management and analysis of complex and large data ... , “We’re delighted to have Julia join the Tunnell ... said Dr. Philippe Cini, Group Vice President and leader ...
(Date:5/20/2015)... 20, 2015 This year has been ... lawns. US Patented Pearl’s Premium Ultra Low Maintenance ... the country that are coming out of record bad ... number of major global concerns related to water, health, ... – the alternative to the standard, water-wasting, chemical-treated standard ...
Breaking Biology Technology:IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 2IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 3Global Survey on Flow Cytometry Adoption Trends 2015 2Julia O’Neill Joins Tunnell Consulting’s Operational and Process Improvement Practice 2Breakthrough 4th Generation Low Maintenance Lawn Seed Offers Solution to California Drought 2
... laser systems, such as those intended to defuse unexploded mines, ... measurement device developed at the National Institute of Standards and ... at a U.S. Air Force base last week, will be ... systems. Light focused from a 10 kW laser is more ...
... Ltd. (Amex: SVA ), a leading provider of ... conference call on Friday, May 15, 2009 at 9:00 a.m. ... the period ended March 31, 2009 and provide an update ... 1-877-407-4018 (USA) or 1-201-689-8471 (international). A replay of the ...
... Amex: PIP ) a biodefense company developing ... date change for its first quarter 2009 financial results. ... be released on Friday, May 15, 2009.PharmAthene management will ... quarter 2009 financial results. The call is scheduled ...
Cached Biology Technology:New nanotube coating enables novel laser power meter 2Sinovac to Host Conference Call to Report First Quarter 2009 Financial Results 2
Borrelia Burgdorfen (IgG) -Ab EIA Sample Size: 100 l...
... pending) is a protein based inhibitor of ... the most common and troublesome RNases including ... SUPERaseIn can be used in any application ... is ideal for in vitro transcription and ...
... Ribonuclease Inhibitor is a potent ... such as RNase A. Like ... Ribonuclease Inhibitor is an acidic ... ~52 kDa. RNaseOUT inhibits RNase ...
...
Biology Products: