New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more
1 in 10 people live with a rare disease—over half of them children. Yet many go undiagnosed, untreated and unsupported. We’re changing that.
For most, finding answers takes far too long and involves too many dead ends.
More than 50% of people with a rare condition are misdiagnosed. On average, finding the correct diagnosis can take:
5
years
16+
medical tests
$10,000 in
healthcare costs
If you or someone you know has a rare disease, chances are it’s genetic. That’s because 80% of rare diseases have a genetic cause—and 70% of rare diseases start in childhood.
We’re making the less visible visible by championing a world where rare diseases are no longer rare in awareness, action, and care.
We see a future where rare conditions are diagnosed quickly. Where we can limit disease progression. Where we unlock tailored treatments for healthier and happier lives.
Because a precise genetic diagnosis can unlock:
Rare disease communities are a vital source of comfort, support, and knowledge. Families looking to connect with advocacy groups and resources can start here:
Find out if symptoms are genetic
If you’re ready to see if your condition might be genetic, we have resources for you—and can even connect you with genetic experts to start the testing process. Explore options.
Find a support group—and community
Patient advocacy groups share resources for patients, caregivers and clinicians. They can also connect you with other families on similar medical journeys. Get connected.
Get covered for testing
If you’re having trouble getting your genetic test covered by insurance (or if you don’t have insurance), we may be able to help. Find your path forward.
Find a clinical trial
Diagnosed with a rare disease? You may qualify for a clinical trial. Search the National Institutes of Health database and be sure to talk to your doctor. Search studies.
Talk to a genetics expert
Anyone tested with us can talk to one of our genetics experts. Ask your questions.
Parents who won’t take no for an answer. Caregivers who go the extra mile to get a genetic diagnosis. And families who work miracles for children with rare diseases. It’s stories like these that inspire us.
How does rare show up in your life? Together, we can show the world just how common—and heroic—rare diseases can be. Sharing your story is a small step that can cause big ripples, helping build a world where rare diseases are no longer rare in awareness, action, and care.
Share #RareYetEverywhere, everywhere.
Join the movement by sharing your story on social media and raising awareness for the need to support rare disease research, diagnosis, treatment, and cures.
Then be sure to keep an eye out. We’re just getting started!
References: 1. Haendel M, Vasilevsky N, Unni D, et al. Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y. 2. Marwaha S, Knowles JW, and Ashley EA. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. 3. Soden SE, Saunders CJ, Willig LK, et al. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076. 4. Bavisetty S, Grody WW, Yazdani S. Rare Dis. 2013;1:e23579. doi: 10.4161/rdis.23579. eCollection 2013. 5. Nguengang Wakap S, Lambert DM, Olry A, et al. Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. 6. Savatt JM, Myers SM. Front Pediatr. 2021 Feb 19;9:526779. doi:10.3389/fped.2021.52679. 7. Malinowski, J., Miller, D.T., Demmer, L. et al. Genet Med. 22, 986–1004 (2020). https://doi.org/10.1038/s41436-020-0771-z.
