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Registry and Biorepository Bulletin
Brought to you by Genetic Alliance Registry & BioBank
27 April 2012 Issue #26


Sage Bionetworks Congress

The 3rd Annual Sage Commons Congress, Building Better Models of Disease Together, was held April 20-21 in San Francisco. The Congress explored how early investments in technical and legal data sharing platforms are beginning to pay off in faster science, increased patient engagement, and disruptive projects that can shake up the entire pharmaceutical industry. The Congress program included deep dives into the Synapse technical platform and Portable Legal Consent systems that together make data about individual research participants the key to large-scale disease research and the open science movement. View the Congress sessions and Congress Unplugged!

UK Biobank Opens

UK biobank has made its sample collection available to researchers. Beginning in 2006, more than half a million participants provided blood and urine samples, along with completing a robust questionnaire that included assessments of height, weight, and body fat, and tests of hearing, grip strength and lung function. Participants will also answer follow-up questionnaires over time, making this large, prospective collection a unique resource. By 2020, it is expected that 10,000 will have breast cancer, 9,000 will have Alzheimer’s disease, and 28,000 will have died from heart disease. Data and samples are available to researchers who agree to publish results and return them to the UK biobank.

Registry and BioBank Boot Camp

Genetic Alliance is hosting a Registry and Biobank Boot Camp, May 15, 2012, in Washington, DC. This hands-on workshop is ideal for disease advocacy organizations and others interested in creating or maintaining registries or biobanks, and builds on other Genetic Alliance training initiatives. This workshop addresses best practices for working with advisors, questionnaire design, sample collection strategies, tools to assess registry vendors, a review of organizational operations and resources, strategies for good governance, and tips for recruitment and retention. Each Boot Camp is tailored to the individuals attending, and is limited to 20 attendees.

Natural History Studies of Rare Diseases

Natural history (NH) studies are an important tool for understanding the etiology, range of manifestations, and progression of rare diseases. Comprehensive, good quality NH studies designed with an eye toward supporting drug development programs can avoid some of the common problems that lead to stalled, slow, or inefficient drug development for rare diseases. The Workshop on Natural History Studies of Rare Diseases: Meeting the Needs of Drug Development and Research, will be held May 16-17th, 2012, at NIH’s Main Campus. This workshop aims to bring together thought leaders in the design, conduct, and evaluation of natural history studies to discuss the role of these studies in the development of therapeutic candidates. Individuals can attend in person or watch the webcast.

Registry and Natural History Studies Salon

Genetic Alliance salons are a means of transformative visioning through conversation with others, and participants are chosen for their character and reputation as open-minded, curious individuals who are willing to explore all sides of an issue. The Registries and Natural History Studies Salon, May 17, 2012, in Washington, DC will focus on registries and natural history studies. Join us in an open discussion about these tools. How has your organization been successful? Where does your organization want to go? What else is needed? What is important to your community? How can we share lessons learned and best practices? This salon follows the Natural History Studies of Rare Diseases Workshop.

Upcoming events

ISBER (International Society for Biological and Environmental Repositories) 2012 Annual Meeting will be held May 15-18, in Vancouver, BC.

BioCor short course, Preservation of Molecular, Cellular and Tissue Biospecimens, will be held May 21-23, in Minneapolis, MN. Topics covered include liquid storage, cryopreservation, fundamentals of preservation, protocol development, debugging protocols, repository design, protein preservation, tissue preservation, clinical preservation, quality control, regulatory issues and more. Early registration closes May 4.


Edited by Liz Horn and Sharon Terry.

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