top of page


Your health data tells a story, one that can shape future treatments. With your consent, we make your history available to as many researchers as we can without revealing your identity. Because together we can build a better tomorrow – for you, your loved ones, and the entire rare disease community.
All individuals with a childhood history of epilepsy or developmental delay are welcome to join our network through our secure digital platform, Ciitizen. Store all of your existing medical records – controlled by you, at no charge.

We are a non-profit consortium led by patient advocacy foundations, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent.

The NIGMS Human Genetic Cell Repository, sponsored by the National Institute of General Medical Sciences, provides scientists around the world with resources for cell and genetic research. Established in 1972 at the Coriell Institute for Medical Research, the NIGMS Repository contains more than 11,800 cell lines, primarily fibroblasts and transformed lymphoblasts, and more than 5,900 DNA samples. Currently, the NIGMS HGCR catalog also contains over 85 iPSC lines.

Repository samples represent a variety of disease stateschromosomal abnormalitiesapparently healthy individuals, and many distinct human populations. These samples comprise over 1,100 different OMIM diagnoses, and have been referenced in over 6,900 scientific publications.

Global Genes provides hope for the more than 400 million people affected by rare disease around the globe. We fulfill our mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf.

MyGene2 is a portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. The genetic cause of most rare conditions is unknown and as a result, most families who undergo exome sequencing or whole genome sequencing do not receive a diagnosis. By sharing information through MyGene2, a family can help and even participate in the discovery of new genetic conditions and the genes underlying these conditions.

NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.  NORD, along with its more than 300 patient organization members,  is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.

Rarebase is a public benefit precision medicine company that leverages cutting-edge technology and biology to discover and develop treatments for the millions of people worldwide living with a rare disease.

We have established non-profit foundations in pursuit of gene therapy treatments to save our sons, and future children facing the same diseases. As a result, we have learned about the process of working toward a clinical trial in partnership with foundations, institutions, and manufacturers. We would like to share that knowledge, as well as our journey, with any rare family that may benefit.

CoRDS is a centralized international patient registry for all rare diseases.

They coordinate the advancement of research into 7,000 rare diseases. Here’s how:

  • They work with patient advocacy groups, individuals and researchers.

  • They capture health information from individuals with a rare diagnosis, undiagnosed patients, unaffected carriers or at-risk patients.

  • They connect researchers and patients and notify our participants of emerging clinical trials.

  • They make the registry accessible. Participants can enroll for free and researchers can access it for free.

Resources: List
bottom of page