Colorful silhouettes of a woman and four children, each in a different color, walking together with the woman carrying a child on her shoulders, set against a faint outline of a DNA helix in the background.

We Offer Hope to Patients & Their Families One Genome at a Time

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What is RG?

Rare Genomics (RG) is a non-profit established in 2011 to bridge the healthcare gap for undiagnosed rare disease patients. Through international patient advocacy, clinical genomic sequencing, biomedical technology partnerships, and researchers, we are accelerating the path to a diagnosis, treatment, and, hopefully, one day, a cure.

Looking for answers? Apply for one of our no-cost programs

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We work with partners to help patients & families obtain sequencing, and potentially find answers.

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We help re-examine previous sequencing results using new scientific literature and discoveries

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Connects patients to free medical devices to help monitor or manage their condition

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An online social network for patients, families, healthcare professionals and others affected by rare disease

RareShare

RareWear

PRS

Sequencing

The People We’ve Helped

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“Due to your team’s incredible dedication, my son and I are a part of two research studies, only made possible by Rare Genomics Institute’s findings. Also, we are exploring whole genome sequencing based on your input. Your volunteers are just wonderful! You provide HOPE!”

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“We're grateful for the work that Rare Genomics is doing to make a difference in the lives of families like ours. The desire to find answers, accelerate research, and support patients make a huge impact and bring hope.”

A young boy with dark hair and an IV line in his neck lying next to a woman with long dark hair, both smiling and lying close together.

“Rare Genomics is more than just an organization. It is a community dedicated to helping rare disease patients find hope for a cure. We know how many amazing discoveries they have done already. It is so inspiring. We are so thankful for honest help and devotion.”

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Did You Know?

300 Million People worldwide are affected by Rare Diseases

1:10 People in the U.S. Suffer from a Rare Disease

35% of deaths in the first year of life are due to rare diseases

The Rare Genomics Impact

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1,160

The Number Of Families We’ve Helped

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400+

Coordinated And Completed Genetic Sequencing And Research Projects

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$5,050,000+

Raised And Funded Next Generation Sequencing For Patients

A Spotlight on Some Rare Diseases

Rare Genomics has begun the process of cataloging the 7,000+ currently known rare diseases, such as:

Join Our Community

Partner with RG

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Our partners are crucial to transforming the future of rare disease diagnosis and treatment worldwide. Join our global network of leading research institutions, pharmaceutical companies, and biotech ventures, and partner with us.

Become a Volunteer

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Even for people untouched by Rare Diseases, there are ways to help. Our organization is entirely run by volunteers who are dedicated to our cause. Check out the opportunities page for more information.

Stay Updated

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Stay informed on Rare Diseases by catching the latest News, Blogs, and Events from RG, our research partners, and our patient community. Subscribe to our Newsletter to get bi-yearly updates.

RG In The News

  • NBC News Logo

    "Those findings will help not only Balazs, but others struggling with rare genetic disease ... That is giving hope to those who descperately need it”

    NBC News

  • Line drawing of a person wearing a backpack and headphones, sitting at a desk with a computer.

    “The RGI not only sequences the actual DNA of the patient, but they also help with community fundraising efforts as well as providing links between patients and experts in the requisite field of disease study.”

    Daniel P. Malito, The Huffington Post

  • Logo of The Wall Street Journal with the initials WSJ in large font and the full name above.

    “[RG] carefully screens kids and matches them with researches”

    The Wall Street Journal

  • Red TED logo on a white background.

    “Late last week, a breakthrough finally came. RG researchers noticed a mutation in a gene, active during fetal development that has never been documented in medical literature before.”

    Kate Torgovnick May, Ted Blog

  • Bloomberg Business logo on a gradient background with purple and blue shades.

    “In mid-July, the institute announced that it had completed its first crowdfunding gene sequencing and discovered what it believes is the root cause afflicting 4-year-old Bronx resident Maya Nieder.”

    Ashlee Vance, Bloomberg

  • The word 'TIME' written in large, bold, red letters on a black background.

    “Maya’s mom turned to the Rare Genomics Institute … which helped her raise money online to sequence Maya’s exome”

    Bonnie Rochman, Time