Rare-disease research benefits tremendously from large-scale biorepositories. Research institutions must cooperate in order to develop networks among biobanks. However, governance, ownership, and ethical standards must be developed before large-scale biobanking can succeed.
Liz Horn, Ph.D., director at Genetic Alliance, breaks down some of the issues of adapting a large-scale biorepository to the smaller and sometimes obscure realm of rare-disease research projects.
Genetic Alliance provides the infrastructure that allows patient advocacy groups to carry out research studies, says Dr. Horn. The Genetic Alliance Registry and BioBank is a centralized sample repository with clinical-data registry. It was founded in 2003 with the intent of providing infrastructure and customized solutions for disease advocacy organizations.
Genetic Alliance has protocols in place so that when a member organization joins, it can concentrate on building the resource within its community, Dr. Horn explains. “All of the back-end work is taken care of,” she says. “Many advocacy groups don’t necessarily have staff scientists. Or if they do, they don’t have the resources to re-create the wheel. They hit the ground running, and start building their collection.”
In very rare diseases, where there’s little research interest, this approach is a realistic way to develop a sample collection and a cohort. The disease group owns its own samples, and Genetic Alliance guides them in building the collection. These nontraditional research initiatives can be very important to the scientific community, and even if originated by nonscientists, the resources gathered can generate interest among scientists.
Sample collections include those for psoriasis, chronic fatigue syndrome, pseudoxanthoma elasticum, Joubert syndrome, hereditary angioedema, and inflammatory breast cancer.