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What is a rare disease?

A disease is rare if it affects fewer than 200,000 people in the United States. In Europe, a disease is considered rare if it affects less than 1 in 2,000 people. There are approximately 7,000 rare diseases affecting about 25 million people in the U.S. This means that approximately 1 in 10 people in the U.S. have a rare disease (Source: NIH, NORD, FDA).

What is a genetic disease?

Genetic diseases are a result of variations in genes. Congenital diseases are genetic diseases that are present since birth.

What is a genome?

The genome is the entirety of an organism’s hereditary information. This comprises all of the genes in an individual. The genome is comprised of nucleotides represented by four letters A, T, C, G, which combine to form the “genomic code”. A portion of the genomic code corresponds to sequences that are translated into proteins. These portions of the genomic code are referred to as exons. All of the exons collectively are referred to as the exome. Portions of the genomic code that are not translated into proteins are called introns.

What is the Difference Between Exome Sequencing and Whole Genome Sequencing?

Whole Genome Sequencing sequences the complete DNA of an organism. In the case of a human this corresponds to about three billion base pairs of DNA. Whole genome sequencing entails sequencing all coding (exons) and noncoding (intron) nuclear DNA as well as mitochondrial DNA. This allows researchers to generate large quantities of data, which can then be analyzed.

The exome makes up only 1.5% of the whole human genome, however ALL protein coding genes are found in the exome. Since most genetic disorders are correlated with mutations in protein coding genes, most physicians and scientists who use sequencing technologies for diagnostic purposes start with an analysis of the exome. Exome sequencing and analysis typically takes less time than whole genome sequencing at less than half the cost.

What is the Rare Genomics Institute (RG)?

RG is an international non-profit that provides access to cutting edge research technologies, physicians, and scientists across the globe. By providing an expert network and an online crowdfunding mechanism, RG helps families pursue personalized research projects for diseases not otherwise studied.

What is unique about RGI?

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:

  • Unique Diagnostic Opportunities: We strive to connect families, physicians, and scientists who would otherwise not have found one another through our “RG sites”. An RG site consists of a research facility that is able to perform DNA sequencing and a clinician and/or scientist that can interpret the data from sequencing.
  • Individual attention from patient advocates: Once you apply to RGI, you are assigned a patient advocate that will work with you to identify the site that best matches your needs all the way through sequencing and results. We will be with you every step of the way!
  • Funding Opportunities: Genome sequencing can cause a significant financial burden for many families. To ensure that a family is not excluded from this technology due to lack of funds or insurance, we have created an individualized crowdfunding platform that allows families to fundraise for their child.
  • Passionate expert volunteers: RG is a almost entirely volunteer-based organization, and almost all of our volunteers have full-time positions outside of RGI. Most of us hold, or are pursuing, graduate degrees in science, medicine, business, and law and we truly care about the issues affecting families with rare genetic disorders. This is why we dedicate time to RG.

What exactly are rare diseases?

Rare diseases are defined as those diseases or conditions that affect less than 200,000 people in the USA. Definitions vary depending on the country, but generally, they affect less than 1 in ~2,000 individuals.

How does sequencing help rare disease patients?

Recent studies have highlighted the ability of sequencing technologies to identify uncommon gene mutations that cause a rare disease, and which tend to be undetected by conventional tests. This research has, in some cases, led to more accurate diagnoses and more efficacious therapies.

What will be done with the money?

100% of funds will go directly to costs associated with sequencing and analysis of patient genomes, after subtracting third-party transaction costs.

Who is doing the research?

Leading genomics researchers at academic institutions. Just have a look at our partners page.

How much does it cost the patient?

We are a non-proft organization and don’t charge any fees. We help the patient raise funds for research in the hopes of finding a cure. We want to accelerate research and potentially contribute to improve the quality of life for every patient.

What about patient confidentiality?

RG will ensure that patient information is kept in the strictest confidence according to government regulations. Sequences will only be made available to the research community once they have been completely anonymized.

Any additional questions?

Please feel free to contact us!