ISBER Working Groups

• Automated Repositories
• Biospecimen Science
• Environmental Biospecimen
• Hospital Integrated Biorepositories
• Informatics
• Informed Consent Procedures for the Collection of Biospecimens
• International Repository Locator
• Pharma-Academia
• Rare Diseases
• Rights to and Control of Human Tissue Samples

Save the Date!
ISBER 2012 Annual Meeting & Exhibits
Westin Bayshore Hotel
Vancouver, British Columbia, Canada
May 15-18, 2012

More Information

Organizers: David Carpentieri and

Elaine Gunter

 

 

 

 

 

 

 

 

 

ISBER Working Groups:
Rare Diseases

Orphan or rare diseases are a clinically heterogeneous group of over 7,000 disorders which are commonly diagnosed during childhood and often have deleterious long term effects. Their cumulative public concern around the world is substantial and depending on whose definition you apply, the incidence will range around 1-8/ 10,000. Unfortunately, only around 300 of these disorders have an effective drug therapy. In order to expand our scientific knowledge of these disorders, several biorepository issues need to be addressed. As expected, many of the difficulties associated with common diseases also apply to rare diseases at a larger scale. A few of these include:

1. Rare disease specimens, to the extent that they are available, are widely dispersed across geographical regions and among various government or privately supported biorepositories.
2. There is a lack of common ethical and legal regulations (informed consent, ownership, and patient privacy) which interferes with global sharing.
3. There is a need to standardize the protocols for the collection of specimens and data for future research.
4. Many advocacy groups lack the funds to support biorepositories and/or scientific projects and are at the mercy of commercial interests.

Working Group Proposal
We envision this group to serve as a guide for translational research in rare disorders through the establishment of standards and guiding new initiatives like the NIH biospecimen RD-HUB (http://biospecimens.ordr.info.nih.gov/) headed by Dr. Yaffa Rubinstein. The group will contribute with position papers and journal publications addressing specific challenges, strategies, and opportunities.