Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories and Clinical Data

Subject: Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories and Clinical Data

The Office of Rare Diseases Research, National Institute of Health, is sponsoring a workshop entitled “Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories and Clinical Data,” which will be held in the DoubleTree Hotel in Bethesda, Maryland, on January 11-12, 2010.

The workshop objective is to discuss the development of an infrastructure for an internet-based platform with common data elements utilizing a federated rare disease registry able to incorporate:
1. Existing rare disease registries
2. Patient organizations with no registry looking to establish one
3. Patients with no affiliation with a support group looking to belong to
a registry

The expected outcome of the workshop is to gain acceptance of the concept of a federated rare disease patient registry and participation in creating this patient registry from as many curators of patient registries and other stakeholders as possible. Participating stakeholders will discuss harmonizing standardized common data elements, vocabulary, and open source software to enable the exchange of data and information to facilitate research collaborations. The purpose of this effort is to establish a rare disease registry to benefit the rare disease patient and research communities.

A link to the draft agenda is available at the bottom of the registration page http://www.rarediseases.info.nih.gov/patient_registries_workshop/addcontact.aspx

For additional information please contact: Yaffa Rubinstein (ORDR), 301-402-4338.

Sign Language Interpreters will be provided. Individuals with disabilities who need reasonable accommodation to participate in this event should contact Yaffa Rubinstein (ORDR),  301-402-4338 and/or the Federal Relay (1-800-877-8339).