With an increasing number of genetic tests available, the National Institutes of Health (NIH) recognises the importance of making information about these tests easily accessible to researchers, patients, consumers, health care providers, payers, and others. 

The NIH is initiating the development of the Genetic Testing Registry (GTR), an online resource that will provide a centralised location for test developers and manufacturers to voluntarily submit test information such as indications for use, validity data and evidence of the test's usefulness. 

The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. As such, the Registry will have several key functions:

Encourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests;
Provide an information resource for the public, including researchers, health care providers and patients, to locate laboratories that offer particular tests; and
Facilitate genetic and genomic data-sharing for research and new scientific discoveries.
Interacting with stakeholders-such as laboratory test developers, manufacturers, health care providers, patient and consumer groups, and researchers-will be a critical part of developing the GTR. For additional information visit: Genetic Testing Registry


Partners in Progress 2010

US National Organisation for Rare Disorders (NORD) will honour two scientists, five companies and one patient organisation at this year's Partners in Progress event aimed at highlighting progress in research, new treatments and advocacy in the rare disease field. 

The following individuals/companies will be honoured this year:


PARTNERS IN PROGRESS AWARD 

Sami I. Said, MD, Distinguished Professor, State University of New York 
Dr. Said is being honoured for distinction as a dedicated researcher, caring physician, distinguished professor, and supportive partner to the patient community.


LIFETIME ACHIEVEMENT AWARD 

Roscoe O. Brady, MD, Scientist Emeritus, National Institutes of Health 
Dr. Brady is being honoured for his pioneering research on lipid storage diseases and particularly for establishing the first effective treatment -- enzyme replacement therapy -- for Gaucher disease, followed by breakthrough work in related areas. 

ABBEY S. MEYERS LEADERSHIP AWARD 

EURORDIS (European Organisation for Rare Diseases) 
This award is presented each year to a patient organisation for outstanding achievement in encouraging collaboration within the rare disease community. EURORDIS is being honoured for establishing World Rare Disease Day. 


CORPORATE AWARDS 

NORD will honour the following companies for new treatments brought to market within the past 12 months: 


Acorda Therapeutics for development of a drug to improve walking ability in people with multiple sclerosis. 


Allos Therapeutics for development of a treatment to treat patients with relapsed or refractory peripheral T-cell lymphoma (PTCL). 

Lundbeck Inc. for development of treatment for infantile spasms in children ages one month to two years.
 

Novartis for development of treatment for patients aged four and older with Muckle-Wells syndrome or familial cold auto-inflammatory syndrome (FCAS), rare, debilitating auto-inflammatory disorders. 


Shire for development of drug to treat children and adults with Type 1 Gaucher disease, a rare and disabling genetic disorder that occurs as a result of an enzyme deficiency. 



The National Organisation for Rare Disorders (NORD) is a non profit organisation representing all Americans affected by rare diseases. Its services include advocacy on public policy issues; education and information for patients, families, medical professionals, and the public; patient assistance programmes to help patients obtain certain medications they could not otherwise afford; mentoring for other patient organisations; and research grants and fellowships.