Rare Genomics Institute to Provide Clinical Whole Genome Sequencing to Children with Rare and Undiagnosed Genetic Diseases through Partnership with Illumina

Washington, D.C. December 1, 2016.  Rare Genomics Institute (RG) today announced a partnership with leading genomics company Illumina Inc. (NASDAQ: ILMN) as part of their iHope program, which provides clinical whole genome sequencing to selected children affected by rare or undiagnosed diseases. 

“My team and I have journeyed alongside many families as they try to access these technologies to help their children find a diagnosis. Being part of the Illumina iHope program will help us bring whole genome sequencing to more families,” said Romina Ortiz, MHS, Co-founder and VP of Patient Advocacy and Policy, who is leading this operation for Rare Genomics Institute.

Since 2011, RG has been helping rare disease patients access genomics to find a diagnosis - connecting them with over 20 research institutions and companies around the world and helping them find funding - either through industry sponsors, academic grants, medical insurance, or crowdfunding.

“We are excited about the Illumina iHope Program, as it allows us to bring cutting-edge technologies to more families facing rare and undiagnosed disease, while removing some of the financial and operational barriers to accessing whole genome sequencing,” said Jimmy Lin, MD, PhD, MHS, Founder and President of Rare Genomics Institute.

Families facing rare and undiagnosed disease experience many challenges as they strive to end what are too often years-long diagnostic odysseys to identify the cause of their child’s ailments, while caring for a child with complex medical needs and an uncertain future. Many do not have access to whole genome sequencing, which presents hope for a diagnosis either because they do not have access to physicians able to order and interpret these tests, or due to financial barriers. The iHope program aims to address these challenges by providing whole genome sequencing to patients with medical and financial need selected by RG and other program partners.

Full details for eligibility and selection criteria are available at http://www.raregenomics.org. Applications will be accepted on a rolling basis.

About Rare Genomics Institute
RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.

For more information about Rare Genomics Institute, visit http://www.raregenomics.org.
The eBook is available immediately at no cost at http://www.raregenomics.org/eBooks.
Stories and professional photos are available for press at http://raregenomics.org/media-kit/.

Rare Genomics is a finalist for the 2016 Drucker Prize!

The winning nonprofit organization, which receives a $100,000 grant, will be announced on September 30. The Rare Genomics Institute was selected from 50 semifinalists—out of 500 applicants—after completing mini-courses that covered innovation and nonprofit performance. Rare Genomics answered questions on our current organizational practices and how we could implement the new ideas that were presented through the mini-courses.

The Drucker Prize, formerly known as the Peter F. Drucker Award for Nonprofit Innovation, has been awarded since 1991. Winning organizations represent the Drucker Institute's definition of innovation: "change that creates a new dimension of performance." Nonprofits are judged on effectiveness, the difference their programs can create in the lives of people they serve, and their innovative impact.

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Rare Genomics Institute Launches a New Personalized Medical Research Platform

– Service features pro bono, patient-centric, consulting from cutting-edge scientists and medical experts –

Washington, D.C. August 11, 2016. Rare Genomics Institute (RG), is a 501(c)(3) non-profit organization that works alongside patients and their families. We provide them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease. Initially formed as a resource supporting patients’ access to genomic sequencing, RG is proud to announce a new personalized medical research platform (http://www.raregenomics.org/rare-reach/) for patients with rare and undiagnosed conditions. This platform centers around a consultative team of highly-trained volunteer scientists and medical experts who provide pro bono, insights and advice for each patient, by leveraging state of the art computational systems, cloud collaboration, and the unique expertise of RG’s global network of rare disease specialists. Patients may enroll in the new service directly via RG’s website. Upon acceptance, patients share their medical and genomic data with their personal RG team of highly-trained scientific analysts via the online data-sharing platform Patients Knows Best (https://www.patientsknowbest.com/). Upon completion of the service, patients receive a detailed scientific report summarizing the main findings about their unique condition, and suggested next steps. Depending on the complexity of each case, possible outcomes could vary from verification of previous sequencing information that could unravel new findings, to actionable outcomes such as connecting to advanced resources.

We are a team of scientists who believe in the potential of science to improve lives and work tirelessly to achieve this goal. Hear from our researchers:

“We are thrilled to announce our new initiative designed to bring more precise and personal knowledge to our patients in order to better understand their unique conditions. Our researchers are fulfilling a critical role in the patient care team that is distinct from that of physicians, genetic counselors, and sequencing services. Specifically, our initiative addresses the need for integrated in-depth analysis of rare disease patients’ unique genetic and medical data to enable deeper insights into their conditions. This translates to faster access to cutting-edge scientific solutions for our patients. We are committed to furthering the RG mission of propelling rare disease research forward in the hopes of bringing our patients closer to a diagnosis, treatment, or even cure.”--- Rajini R. Haraksingh, Ph.D., VP, RareREACH.

 “The average RG patient has already seen at least 10 different physicians by the age of 3, and still is no closer to an answer. These families have been through tremendous emotional, physical and financial hardship, something that most people cannot begin to comprehend. The Patient Advocacy Team (PAT) at RG is intimately involved with patients, providing them with Individualized case management and coordination of CLIA-certified Genetic Sequencing services. On a case by case basis, we help patients identify appropriate funding opportunities. Our HIPAA-compliant patient data sharing policies ensure protection of patient privacy. PAT provides patients and their families a platform to gain access and push science to the limit to find an answer, because every disease will be on its way to a cure, no matter how rare.” --- Romina Ortiz, VP of Patient Advocacy and Policy at Rare Genomics Institute

To learn more about our journey and accomplishments, click here (http://www.raregenomics.org/).

We are always looking out for ways to help our patients and their families. Our RG partners (http://www.raregenomics.org/research-partners/) play a pivotal role in this herculean task. If you are interested in knowing more about RG’s services or partnering with us, please reach out to us: http://www.raregenomics.org/contact-us/.


Hear an engaged debate on library selection from the Biology and Chemistry perspectives. At times humorous, Michelle Arkin, Associate Professor, Pharmaceutical Chemistry – Director, Biology, Small Molecule Discovery Center – University of California, San Francisco & Nick Skelton, Principal Scientist – Genentech Video discuss their own collaborations, collaborations in general, and best modern approaches to library selection in academia and industry.

Rare Genomics founder on Orphan Drug Law

Johns Hopkins accuses drugmakers of 'gaming' orphan drug law
Report urges Congress to cinch up loopholes it says are bleeding away development funds

But not everyone sees the situation as drugmakers extracting big bucks through loopholes. Jimmy Lin, founder of the Rare Genomics Institute sees it as drugmakers taking advantage of the advances in genomic science that has helped them understand how their drugs can help more people.

"Everyone wants to find a rare disease that can also be used for a majority of the population," Lin told CNBC. "Many blockbuster drugs started off as rare indication. If you have something working for one disease, you want to try it for others as well. The drug pipeline for common diseases is drying out, so pharma companies are trying to get creative here."

Read the article here >

RG Speaks at Partnering for Cures Conference

RG Speaks at Partnering for Cures Conference

n November 3, Imran Babar, VP of Scientific Affairs at RG, participated in a panel at the Partnering for Cures Conference, called Disruptor’s Academy: Crafting a high-impact prize challenge: lessons from the field. Imran spoke about the success RG has had in partnering with companies to offer prizes for rare disease research that has difficulty attracting traditional sources of funding. 

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RG Presents at 5th U.S. China Health Summit

We are proud to announce that RG’s China branch will be presenting as finalists at the Award Ceremony at the Young Leadership Forum of the 5th US-China Health Summit at Harvard University on Sept. 29. RG’s China branch was selected from more than 30 exceptional healthcare startup teams in the initial round of the 2015 Innovation Competition on the U.S. side, and together with additional teams selected from China, RG will join them to make a podium presentation at Harvard. The competition encourages young entrepreneurs to identify areas of unmet need and to develop innovative healthcare solutions- a perfect fit with RG’s mission! Read more about the Summit and the competition here: https://www.facebook.com/uschinahealthsummit

Opportunity for First Hand Foundation Grants

Has your insurance company refused to cover the cost of your genetic sequencing or other medical expenses related to your child’s rare disease? The Rare Genomics Institute has been referring qualifying families to the First Hand Foundation, a public charity that provides funding for individual children with health needs when insurance and other financial resources have been exhausted. 

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Come Join RG’s Internship Program!

This summer, RG brought on 29 interns through our summer fellowship program to help RG undertake a massive rebuilding of RareShare. Our interns have been hard at work adding information on the latest developments to our rare disease communities, as well as building pages for over 200 new rare disease communities. Do you know someone who may be interested in an internship helping rare disease patients? Tell them to email us a resume at contact@raregenomics.org.

Rare Genomics Institute Announces Winners of BeHEARD

The Rare Genomics (RG) Institute is delighted to announce the winners of the 2015 BeHEARD (Helping Empower and Accelerate Research Discoveries) science challenge, a global competition that offers rare disease researchers, who traditionally have difficulty attracting funding, grants of the latest life science innovations and technologies. 

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