Two years ago I blogged about the NIH requesting feedback on a proposed Down syndrome registry and biobank.
Last year I shared that the NIH was indeed establishing a National Down Syndrome Patient Registry.
This NIH patient registry, called DS-Connect, is now live. Families can now sign up with the registry. You can share as much, or as little, information as you want.
This registry "...will facilitate contacts and information sharing among families, patients, researchers and parent groups."
How this registry can be used:
For professionals - Researchers, clinicians and other professionals can access de-identified
aggregate data to identify target populations for study
or trial planning or recruitment.
For families - explore the information you and others have provided to learn more about
Down syndrome and its impact on other community members.
DS Achieves put out this statement of support about the new registry, "a resource for connecting researchers with
families and self-advocates willing to participate in research and
clinical trials. Called “DS-Connect,” the NIH Down syndrome registry
will also help researchers improve our overall understanding of DS as a
condition with the health histories, symptoms, and diagnosis information
that families voluntarily provide.
For decades, DS researchers have lacked commonplace tools and
capabilities necessary to advance their work to the next level,
including a national DS registry. Without them, we can’t move from basic
research to clinical trials to drug therapies or best practices that
can meaningfully improve the quality of life for people with DS."
DS Achieves created the ONE21 campaign with the vision "to fund the development of a dedicated and centralized DS biobank that will be open to all DS researchers, regardless of institutional affiliation. A biobnak will go a long way toward advancing the science of DS faster, making therapies and best practices available sooner, so our lovved ones with Ds can live healthier, happier, and more vibrant lives."
You can join the ONE21 community to stay up-to-date on the creation of a biobank.