October 2, 2013
Liz Donohue is the director of the Coordination of Rare Diseases at Sanford (CoRDS), in the Sanford Children’s Health Research Center at Sanford Research in Sioux Falls, USA. Sanford Research is a non-profit research organization formed between Sanford Health and the University of South Dakota. CoRDS is a central patient registry for all rare diseases which is committed to finding cures and advancing therapies for rare diseases. It is funded internally through the Sanford Children’s Health Research Center at Sanford Research/USD and through a Sanford Health Foundation grant.
Interview of Liz Donohue
IRDiRC: What is the main problem that you will tackle?
Liz Donohue: Many new developments in the diagnosis and treatment of human disease rely on research that involves the collection and analysis of data, but research into rare diseases is challenging due to a lack of information, the low numbers and geographic spread of individuals affected by rare disease, and data collected and stored in separate databases. There is a compelling need for the creation of a centralized resource of contact and clinical data on patients diagnosed with a rare disease.
IRDiRC: What is the concrete solution that you have selected? What are the steps? At what stage are you today?
Liz Donohue: To help address these challenges and advance research into rare diseases, we have established a central rare disease patient registry for all rare diseases, working with patient groups that want to start a general rare disease patient registry or a disease-specific patient registry. We will be accepting applications from researchers to access data in the coming months.
IRDiRC: What can the patients, the clinicians or other stakeholders expect at the end of the project?
Liz Donohue: At the end of the project, patients would be able to contribute to basic contact and clinical data after providing informed consent. They may indicate if they would like to be contacted about research opportunities in the future and how they would like their information to be shared.
Researchers with Institutional Review Board (IRB) approval (or corresponding approval in their country) may apply for access to de-identified data into CoRDS database. Researchers would also be allowed to request CoRDS staff members to contact patients on their behalf.
Providers with IRB approval may apply for access to de-identified data into CoRDS database. Providers would also be allowed to request CoRDS staff members to contact patients on their behalf.
IRDiRC: How is your project contributing to reaching the goals of IRDiRC by 2020?
Liz Donohue: CoRDS is contributing to reaching the goals of IRDiRC by 2020 by:
- Creating a central registry for rare diseases which will help establishing and providing access to harmonized data and samples
- Gathering natural history of diseases by updating and overseeing the registry data which will help performing the molecular and clinical characterization of rare diseases
- Facilitating the translational, preclinical and clinical research in the future, by building a rare disease biobank which will become operational in late 2013.
- Providing feedback on issues pertaining to informed consent which will help streamlining ethical and regulatory procedures
IRDiRC: Where does this project position itself in this particular field at the international level?
Liz Donohue: Currently, individuals from all around the world are allowed to enrol to CoRDS registry, as long as they speak and understand English. The software used does support other languages, and CoRDS hopes to translate documents into other languages in the future. Researchers from all around the world can access the Registry as long as they have IRB approval (or corresponding approval in their country).
Liz Donohue, on behalf of CoRDS, USA