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Sequencing for Rare Disease Patients
Industry Insight

Sequencing for Rare Disease Patients

Sequencing for Rare Disease Patients
Industry Insight

Sequencing for Rare Disease Patients

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Rare disease patients and their families can often feel alone in their struggles, with little knowledge available about their conditions and potential treatments. The Rare Genomics Institute aims to help rare disease patients to understand their disease, through connecting them with experts and securing funding for their genome sequencing.

To find out more about the Rare Genomics Institute and the work it carries out, we spoke to Dr. C. Jimmy Lin, Founder & President.

AM: Can you tell us about Rare Genomics Institute?

JL: Rare Genomics Institute is a 501(c) 3 non-profit that provides genome sequencing for children with rare and orphan diseases. The mission is to help find diagnoses, treatment, and cures by connecting top scientists to families with a child who has a rare disease and utilizing the most advanced technologies. RGI also works with families giving them access to crowdfunding to help with the cost of sequencing. We partner with over 50 top scientists and medical institutions across the US and around the world.

AM: You met a sick child when doing your training at Johns Hopkins. Can you tell us how this led you to start RGI?

JL: While finishing medical school at Johns Hopkins, I was in a pediatrics rotation when I met a family with a very sick little boy. This little Indian boy, his parents and family members had traveled all the way from upstate New York to Baltimore. The little boy had been to Harvard and the Mayo Clinic, so when they came to Johns Hopkins, I was excited to try to help him. He had been healthy until about 3 years old, but then he quickly lost his ability to use any of his muscles. He was unable to talk or walk and had a feeding tube. Our medical team spent several hours evaluating the little boy and reviewing all of his tests and medical procedures from all the other hospitals.

After exhausting every available test, the team could not come up with a reason for his condition. There was no additional clinical testing available to use at the time. When the mother heard the news, she had a look of hopelessness that I will never forget. This event was life changing.
Rare Genomics Institute was formed to use genomic sequencing to help find answers for undiagnosed or rare disease patients like this little boy.

AM: Your approach is different than most medical models. Can you tell us more about RGI and the services you provide?

JL: The traditional medical model is top down. At RGI, we have a bottom up model where we start with the individual patient. We stand side by side with each patient and ask ourselves what resources they need to get to the next level. Then we design research studies and exome sequencing for each individual patient. Each patient is paired with expert researchers and our patient advocates to help the families move that patient forward to receive the best resources for their illness. We can also store all the medical information so the scientific community can use their expertise to make recommendations for the child.

AM: Can you explain how genome sequencing the rare disease patient can help shed light on common diseases?

JL: Every time a person’s genome is sequenced and studied, it adds depth to the medical knowledge we have today. This constantly improves our ability to shed light on the best course of treatment for the patient and progress is made so a cure may be found. For the families, genomics allows them to access the most advanced scientific knowledge about their children’s conditions.

AM: What are the biggest challenges facing the industry and genome sequencing?

JL: All the research costs money. Even with the cost of sequencing dropping, many families with rare disease children have significant financial costs associated with their care. To address this, we came up with a crowdfunding model. We help families set up a crowdfunding campaign to raise the money to cover the cost of their child’s sequencing.

The money given in crowdfunding helps not only the sick child, but it enables advancement in science. Family and friends not only build community around the patient, but they support a genome project for the child. Experts and researchers can use their knowledge to help the child.

Funding for rare diseases has been a problem because each individual disease may not have a large population of patients. However, when you look at rare diseases and add them up, there are collectively over 7,000. One in every ten Americans is affected. People living with rare diseases have broken genes in their bodies, but these are genes that we all share. The rare diseases in these kids are very important. If we understand these genes, we can help not only the child but also see how these critical genes can relate to common diseases.

AM: Could you talk about RGI’s international work?

JL: RGI is continuing to expand its reach globally with sites now in Australia, Malaysia, Singapore, Israel, Spain, India, Canada, South Korea and China. We are expanding our role throughout the world. We are bringing this technology to countries that do not have it. We know the potential and the need, and we want to improve the quality of life for our patients in every country. Our partnerships around the world will continue to make a bigger footprint on rare diseases, and we hope that our innovations in diagnosis and treatment can bring new options and cures for rare diseases affecting the lives of millions of people.

AM: Can you give us an example of a success story?

JL: Robert, one of our patients, was born and seemed perfectly healthy until just after his first birthday. Then, he had a sudden medical breakdown that led his parents on a journey with no answers for about 14 years until he came to us. We helped Robert and his parents set up a crowdfunding campaign to pay for his sequencing, and it was very successful. They quickly raised the money and Robert and both of his parents were sequenced. Sequencing determined that Robert was 1 of only 9 other people in the world to have Dystonia 16. Without sequencing he could have continued on his over fourteen year quest to see all the experts in the world, and they would not have figured this out. Now Robert is connected to the world’s top experts that are actively studying his disease. They can conduct clinical trials and provide hope for him and his family. The world’s best experts are working with him.

At RGI, we start with each individual patient. For most parents, navigating the medical system is difficult. They are often on a diagnostic odyssey where they seem to keep hitting dead ends with no answers. RGI can help them find hope.

You can find out more about the Rare Genomics Institute here.

C. Jimmy Lin was speaking to Anna-Marie MacDonald, Editor for Technology Networks.


C. Jimmy Lin, MD, PhD, MHS, is a 2012 TED Fellow and Founder & President of Rare Genomics Institute, the world’s first platform to enable any community to leverage cutting- edge biotechnology to advance understanding of any rare disease. Dr. Lin is also the Director of Clinical Genomics at the Genetics Branch of the National Institute of Health/National Cancer Institute (NIH/NCI). Prior to this, he led the computational analysis of the first ever exome sequencing studies for any human disease at Johns Hopkins and was a research instructor at Washington University in St. Louis.