What is the Rare Genomics Institute?

The Rare Genomics Institute (RG) is an international non-profit organization that provides rare disease patients with access to cutting edge research technologies, physicians, and scientists across the globe. By providing an expert network and an online crowdfunding mechanism, RG helps families fund and pursue personalized research projects for diseases not otherwise studied. We bring together scientists who volunteer their time to help rare disease patients and leverage the crowdfunding capabilities of the Internet to bring the hope of a cure to our patients. All of our services are completely free.

Some of the Ways we Help Patients:

1.      Genetic sequencing- for many patients who have been to dozens of doctors with no clear diagnosis, genetic sequencing can pinpoint the cause of a rare disease. RG connects patients with the best sequencing site for their needs, and is often able to arrange a discounted rate.

2.      Crowdfunding platform- genetic sequencing costs thousands of dollars, and often is not covered by insurance. RG provides patients who need funding with an online crowdfunding platform and crowdfunding training, and identifies grants and funding that patients are eligible for.

3.      Interpretation of sequencing results- RG’s scientist volunteers help interpret the results of sequencing for patients, evaluate the results of studies related to a particular case, and are often able to connect patients to the top doctors specializing in their disease.

4.      Funding for rare disease research-RG’s BeHEARD program provided over $600,000 of technology grants to rare disease organizations and researchers in 2015. For specific patients and their families, BeHEARD staff can work to connect patients with researchers working on their rare disease to develop research proposals.

5.      RareShare- for those who already have a diagnosis, RG’s website RareShare hosts patients communities for thousands of rare diseases, allowing patients to find others with the same disease and share the latest treatments.

RG Success Story Example:

Since he was born, Harrison Snow had suffered from an undiagnosed muscular disease that led to difficulties speaking, swallowing, and breathing. He spent nearly every day in a state of fatigue and exhaustion. After four years of searching for a diagnosis, his family contacted the Rare Genomics Institute. Our patient advocacy team worked with the Snow family to partner with two other institutions, the Scripps Institute and the Mayo Clinic.

Exome sequencing for Harrison was performed at the Scripps Institute. The sequencing led to a diagnosis of a neuromuscular disease called Congenital Myasthenic Syndrome (CMS), a very rare disease affecting around 1 in 500,000 people. CMS has 12 subtypes, and the sequencing was also able to pinpoint the exact subtype of the disease that Harrison was diagnosed with: one of the rarest, with only 12 reported cases in the entire world.

In April, the family was able to see the nation’s specialist in CMS at the Mayo Clinic, who had actually discovered several of the subtypes. The family learned that there are currently 5 drugs available to treat the symptoms of CMS. Certain medications that are greatly effective for one subtype can harm patients with other subtypes, so knowing Harrison’s specific genetic makeup allowed the doctor to prescribe an effective course of treatment.

Harrison started taking Albuterol syrup, and the family has seen a remarkable improvement in his condition. “He has a ton of energy…we can hardly make him sit down to watch a TV show these days!” says Susan, Harrison’s mother.  “He is talking much better, he is swallowing without issue, his breathing is slower and deeper.  We have been so encouraged by the changes.”

If you are interested in learning more about what RG offers for rare disease patients, or think you or a friend may be a good candidate for our services, please visit our website at http://www.raregenomics.org/