What is 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.


How does RGPRS work?

We have established a secure platform through Patients Know Best (PKB), which makes it convenient for patients to share their clinical and sequencing data with our research community at will. We are striving to build an infrastructure that would support storage of and secure access to patient’s specimens for researchers who have agreed to help on a case and conduct further analyses. Researchers can choose to work on any aspect(s) of a particular project from understanding the basic biology of a rare disease to advancing trials for novel treatments. Patients who enroll in RGPRS will be assigned an RG patient advocate and an RG scientist to manage their case. Our team is committed to advancing projects as quickly as possible.

RGPRS Work So Far

Provided pro bono in depth analysis of the genetic and medical data to 26 families so far, 7 in the last year.

Identified 36 possible disease causing variants from our analysis. These were further pursued by the patient in consultation with their physicians.

Create awareness among families about ongoing research or researchers in their area of interest. Also suggest disease foundations or organizations they can get connected to for support.

Recommend clinical trials whenever possible.

Patient Process

Step 0

Connect with RG Patient Advocacy Team (PAT) to get referred to and consented for RGPRS.

Step 1

Receive a PKB account from your PAT representative and upload all your medical, clinical, and experimental data.

Mandatory Data for acceptance into RGPRS:

  • - Trio of Whole Exome Sequencing (WES) files (.vcf, .bam, fastaq)

    1. - Clinical presentation

    2. - Symptom/treatment history and progression

    3. - Family history (please include any relatives with similar symptoms and mode of inheritance, i.e maternal or paternal)

    4. - If multiple siblings are affected, it would be best to have sequencing data of all of them including their parents.

    5. - Other genetic tests and findings (and/or) analytical reports


 Supplementary Data that would help improve analysis by RGPRS:

  • - Trio of Whole Genome Sequencing (WGS) files (.vcf, .bam, fastaq), often more revealing than WES files

  • - Ethnic inheritance in the family:

  • - Mother:

  • - Father:

  • - Laboratory Results

  • - Test, Scans, MRIs, etc.

  • - Sequencer technology and exome capture kit used for WES analysis

Step 2

Get introduced to your RG Science Liaison via email, they will keep you informed about the status of the analysis and answer any questions you have.

Step 3

Obtain a scientific report from your RG scientist containing a scientific summary of your case, recommended experiments, and relevant scientific literature.

Step 4

Your case goes live on our online forum where members of our global network of scientific experts will have the opportunity to work on it.

Step 5

Receive a follow up report about your case from RG that may include novel findings and/or interested researchers.

What to expect from RGPRS

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Patients who enroll in RGPRS should do so with the following possible outcomes in mind.

1.          We may connect you with researchers who are willing to work on various aspects of your case according to their expertise.

2.          Our network of researchers may be able to identify ideas, experiments, analyses, or existing studies, which may be options for you and your clinician to explore.

3.          We may be unable to identify a researcher suitable for your particular case. In this scenario you will be provided with a scientific report generated by our science team that includes a summary of the relevant scientific literature and potential ideas or experiments that may help elucidate your case.


Disclaimer: The Rare Genomics Institute (“RG”) is a research organization that can help physicians by comparing certain laboratory findings to the scientific literature. That process sometimes yields insights into poorly understood illnesses. However, RG is not comprised of physicians and cannot not diagnose, treat, or provide prognoses based on our findings. Please consult your physician if you have any medical questions, or call 911 in case of an emergency.