Step 1: Initial Contact
After you complete the online Patient Contact Form, a Patient Advocate from our team will contact you within three business days via email to find out more about you. The goal of this step is to gather information from you about your condition or diagnosis, as well as your treatment history. This is the first step in determining whether Rare Genomics Institute can offer assistance based on your responses.

Step 2: Case Review
After we receive your responses, your Patient Advocate will schedule a call to get more detailed information to determine whether Rare Genomics Institute can offer help and resources through one of our services. You and your Patient Advocate will review your application to fill in any additional information about your medical history, including history of genome sequencing, and you will have an opportunity to ask questions about available services. After this conversation, your patient advocate will present your case at a weekly Rare Genomics Task Force meeting to assess your needs in terms of available services.

Step 3: Coordinate with RG Programs
If we can help you, your patient advocate will continue working with you in one of our programs. Together we will assist you by coordinating with physicians and labs by connecting you with resources uniquely suited to your needs.

Our Programs

RG Task Force

Rare Genomics Task Force (RGTF) is a novel scientist consultation platform where you can have your questions answered by experts. If you have a question(s) about a rare disease, please submit your question(s) and fill out the form below. Once the form is submitted, you will receive a confirmation email within 2 business days. Please note you can always ask more questions or add details once a scientist in our team is assigned to your case. Though RG does not provide a medical diagnosis, the RGTF team will be able to provide the latest scientific information regarding the research on your particular condition.  

iHope

Rare Genomics Institute (RG) is happy to partner with leading genetic sequencing laboratory Illumina Inc. (NASDAQ: ILMN) as part of their iHope program, which provides free clinical whole genome sequencing to children affected by rare or undiagnosed diseases. Romina Ortiz, MHS, Co-founder, COO and VP of Patient Advocacy, is leading this operation for Rare Genomics.

RG Patient Research Services

RG Patient Research Services (RGPRS) is an initiative of Rare Genomics Institute (RG) that aims to advance research beyond genome sequencing for some of the most challenging rare diseases. We recognize that in the majority of cases sequencing data alone will not be actionable for patients. Therefore we are leveraging our broad network of expert biomedical researchers to crowdsource scientific ideas, experiments, and analyses that may lead to a better understanding of rare diseases.

Furthermore, we are building a novel system to efficiently share biological material and data between patients and researchers to expedite the discovery process. RG is hopeful that our RGPRS objectives will successfully propel, rare disease research and support our overall mission to provide diagnoses, treatments, and cures for rare disease patients.

Rarewear

The RareWear program connects rare disease patients to medical device providers to offer free devices to help patients better monitor and manage their condition. RareWear is an ongoing program and patients are welcome to apply throughout the year.

Our Impact

• RG Patient Advocacy has serviced over 825 families

• Coordinated completion of over 380 genetic sequencing and research projects 

• Has assisted patients with funding for over $5,050,000 worth of next generation sequencing

Our Partners

iHope

Rare Genomics Institute (RG) is happy to partner with leading genetic sequencing laboratory Illumina Inc. (NASDAQ: ILMN) as part of their iHope program, which provides free clinical whole genome sequencing to children affected by rare or undiagnosed diseases. Romina Ortiz, MHS, Co-founder, COO and VP of Patient Advocacy, is leading this operation for Rare Genomics.

Who is eligible?

Children who are suspected of having a rare or undiagnosed disease, who have two biologic parents who can also provide a blood sample and a physician that recommends the test.

Is there a cost associated? 

There are no costs for the sequencing and interpretation. There may be cost associated with visiting your physician and drawing samples that you will be responsible for.

How long will it take to get results and will they be private?

In an estimated 90 days the results will be sent to your referring physician.

How do I apply? 

Complete our RG application and a member of our Patient Advocacy Team will contact you for next steps to determine eligibility.

Our Team

Why We Do This

“Our experience with RG has been fantastic with a proactive and dedicated team, from when we first communicated 3 years ago, you have never stopped.” - Rebeca Bentolila, Mother

“Now we know, we have solid evidence. It’s not just based off different tests. We have something that is directly related to him and it’s helped him dramatically. Now that we know what is wrong with our daughter, which routes we need to go. Thank you, I can’t say it enough.” - Jonathan Van Brocklin, Father

“Thank you for persistently pushing this genetic testing process along. We have finally got a diagnosis for our son after 9 years of not knowing. Your work truly mattered.” - Janet Wong, Mother