At Rare Genomics, we are focused on breakthrough discoveries that save lives.

Science 2.0 is an innovative approach to conquering rare diseases that puts patients at the center of finding a cure. It extends beyond genome sequencing to provide a new healthcare delivery model that connects patients with crowdfunding resources and a multi-disciplinary team of world-leading rare disease experts who interpret sequencing results.

Our experts are selected specifically for each patient based on their symptoms.

At Rare Genomics, our mission is to provide diagnoses, treatments and cures for rare disease patients. We search for answers, we provide hope, and we lead healthcare innovation. 

Science 2.0:  A novel personalized medicine initiative

We recognize that the results of sequencing alone are often not actionable for patients. Science 2.0 takes it a step further. Each patient enrolled in Science 2.0 receives genome sequencing, a personal team of scientific experts dedicated to analyzing their results, and a pro-bono consulting team of world-leading physicians and researchers in rare diseases. Our multi-faceted, patient centered program ensures that every patient with a rare and undiagnosed disease benefits from the latest research.  There are six main components:


At the core of what we do at RG, we continue to work to provide access to genomic sequencing for families that are unable to with their own resources or insurance. Rare Genomics’ Patient Advocacy Team assists families in raising funds and identifying grants to pay for the sequencing that they need. Our patient advocacy team helps families to create crowdfunding pages complete with a picture, story of the patient's journey, and anything else the family would like to share. 100% of all donations go to pay for the patient's sequencing and are tax-deductible- RG does not charge any fee for our services.

Genome Sequencing

Personalized genome sequencing is Rare Genomics’ core competency. We have been providing this service for 4 years , and have helped over 400 patients/families access sequencing since 2011. We believe genomic sequencing is the building block that will provide answers for rare disease patients. Rare Genomics helps every patient enrolled in Science 2.0 to access genome sequencing, patient support programs, crowdfunding and access to expert analysis.

Result Interpretation

Once results from your sequencing are available, our Science 2.0 initiative leverages an expert team of scientific analysts that dig deeper to try to find out what your results mean. Have you already been sequenced outside of RG but the result was inconclusive? We can also help. This process generally takes two weeks. We use your medical history combined with the raw data from sequencing to build a comprehensive report that outlines a connection between your results and possible links to disease, including: Summary of your history Hypotheses about possible diagnoses (if possible) Description of similar cases, including missing symptoms, possible genetic causes A list of potential genes or biological pathways that may affect the disease. Potential best next steps include additional analysis, medical testing, and recommendations from researchers on clinical trials.

Personalized Multi-Disciplinary Medical Team

With your enrollment in the program, your specimen, results, and our analysts findings are shared with an expert team of advisors, specializing in rare disease, through a secure platform on Patients Know Best[EC9] . Of course, your data is your data. Patients control the sharing of their specimen, clinical, and sequencing data. Once a patient’s information is available on the portal, we immediately begin work to rapidly build a team of expert researchers and scientists who will provide pro-bono consulting on your case. Rare Genomics Multidisciplinary Expert Team includes 50 advisors sourced from top universities and other organizations including:

  • Harvard University
  • Stanford University
  • UC Berkeley
  • Tufts
  • National Institutes of Health
  • Jackson Labs
  • Coriell Institute

On-going support

Every patient enrolled in Science 2.0 is assigned a Rare Genomics patient advocate[EC11] and a Rare Genomics Scientist to manage their case and serve as personal contacts for our rare disease families.

RG Forum

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