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:8/21/2014)... of American singles found that during sex with ... rates. On average, men experience orgasm 85.1 percent ... little difference. For women, however, orgasm occurrence is ... percent of the time during sex with a ... women,s sexual orientation, with lesbian women experiencing orgasm ...
(Date:8/21/2014)... a previously unknown process for harvesting energy and producing ... Penn State University scientist has discovered. The discovery lays ... growth, harvesting energy from the Sun, and understanding dense ... other lakes worldwide. A paper describing the discovery will ... of the journal Science on 21 August ...
(Date:8/21/2014)... ubiquitous skin fungus linked to dandruff, eczema and other ... to even further global reachesincluding Hawaiian coral reefs and ... vents. , A review in the scientific journal ... of the fungi of the genus Malassezia ... sequencing datasets from around the world. , University of ...
Breaking Biology News(10 mins):Orgasm rates for single women less predictable than men's, vary by sexual orientation 2Orgasm rates for single women less predictable than men's, vary by sexual orientation 3Orgasm rates for single women less predictable than men's, vary by sexual orientation 4Hot-spring bacteria reveal ability to use far-red light for photosynthesis 2Hot-spring bacteria reveal ability to use far-red light for photosynthesis 3From dandruff to deep sea vents, an ecologically hyper-diverse fungus 2
... South Korea, Jan. 8 Pixelplus Co.,Ltd. ... company in Korea that designs,develops, and markets ... today announced that it unveiled the "PM1002", ... image recognition,applications., The PM1002 integrates a ...
... 8, 2008) Adolescent girls who frequently eat meals ... pills, laxatives, or other extreme measures to control their ... Dianne Neumark-Sztainer, Ph.D., M.P.H., R.D., lead investigator of Project ... Minnesota School of Public Health. Neumark-Sztainer and Project ...
... Philadelphia, PA, January 8, 2008 Schizophrenia is a ... increased risk. Available antipsychotic medications treat some of ... only a subset of patients. Unfortunately, it is ... in any given individual with schizophrenia. John H. ...
Cached Biology News:Pixelplus Unveils Its PM1002 as A Practical Biometric Solution for Iris, Facial and Fingerprint Recognition 2Pixelplus Unveils Its PM1002 as A Practical Biometric Solution for Iris, Facial and Fingerprint Recognition 3U of M research finds disordered eating less common among teen girls who regularly eat family meals 2Genetic variant predicts antipsychotic response for schizophrenia patients by ethnicity 2
(Date:8/21/2014)... 2014 Pursuit Solutions ( http://www.pursuit-solutions.com ... and services for Life Sciences sales and marketing ... of New Commercial Sales Models” by Peter Robinson, ... The article examines some innovative models used to ... tested in the pharmaceutical market. Robinson grades the ...
(Date:8/21/2014)... Gallus BioPharmaceuticals , LLC, ... manufacturing organization (CMO) announced today that it has ... company focused on the development of innovative approaches ... anti-prostate specific membrane antigen (PSMA) monoclonal antibody used ... the agreement the antibody will be produced in ...
(Date:8/21/2014)... August 21, 2014 On Wednesday of last ... to use Redox Signaling molecules, became available for purchase in ... , "The way that RENU 28 works is, if you ... down of the rate of cellular renewal within your body. ... increasing of that rate of cellular renewal. What RENU 28 ...
(Date:8/20/2014)... licensed to biotechnology firms has revealed early bottlenecks ... roadblocks, the researchers suggest that better communication of ... lead to faster commercialization down the road. , ... in university laboratories and licensed to biotechnology firms. ... have a high failure rate. But a new ...
Breaking Biology Technology:Pursuit's Peter Robinson Publishes "Grading Pharma's Use of New Commercial Sales Models" 2Gallus Enters Agreement with Progenics Pharmaceuticals, Inc. for Manufacture of Anti-PSMA Monoclonal Antibody 2Gallus Enters Agreement with Progenics Pharmaceuticals, Inc. for Manufacture of Anti-PSMA Monoclonal Antibody 3RENU 28 Skin Care Now Available in Australia and New Zealand 2Early bottlenecks in developing biopharmaceutical products delay commercialization 2Early bottlenecks in developing biopharmaceutical products delay commercialization 3
... 19 MAKO Surgical,Corp. today announced that it has filed ... Exchange Commission relating to a proposed,initial public offering of its ... sold by MAKO Surgical Corp. The,number of shares to be ... been determined. The Company intends to apply to have its ...
... AMSTERDAM, September 19 - IDF Launches ... IDF today issued the new global guideline ... glucose.(1) The guideline emphasizes,that people with diabetes should ... in order to optimize diabetes control and reduce ...
... BASEL, Switzerland, September 19 ,Arpida Ltd (SWX: ARPN) ... summary session of new antimicrobial agents at the ... (ICAAC) in,Chicago. ICAAC is a major scientific conference ... the world gather to discuss the,latest developments in ...
Cached Biology Technology:MAKO Surgical Corp. Files Registration Statement for Initial Public Offering of Common Stock 2The International Diabetes Federation (IDF) Recommends Tighter Control of Blood Glucose Levels After Meals in People With Diabetes 2The International Diabetes Federation (IDF) Recommends Tighter Control of Blood Glucose Levels After Meals in People With Diabetes 3Arpida Invited to Present Preclinical Data on Novel Topical Antibiotic AR-2474 at ICAAC 2Arpida Invited to Present Preclinical Data on Novel Topical Antibiotic AR-2474 at ICAAC 3
Rabbit Anti-Human Secretory Carrier Membrane Protein 2 (SCAMP2 Polyclonal AntibodyOther Sub-Family: not assigned-Other Applications: Western Blot...
... Mucin 3 (MUC3) is a glycoprotein. ... a lesser extent in breast, lung and ... shows no cross-reaction with MUC1 and MUC2. ... human MUC3 Immunogen: MUC3 tandem ...
... CDX2, a member of the caudal-related ... that regulates both proliferation and differentiation in ... role in triggering cells towards the phenotype ... in the maintenance of the phenotype. Clone ...
Rabbit polyclonal to VPAC2 ( Abpromise for all tested applications). entrezGeneID: 7434 SwissProtID: P41587...
Biology Products: