The Rare Genomics Institute, founded to advance the diagnosis and treatment of rare diseases around the world, has built a world-class network of leading research institutions, pharmaceutical companies, and biotech ventures who have committed their funding and support to realize this vision of a global hub for the advancement and treatment of all rare diseases, and to helping rare disease patients and their families share their stories and become active stakeholders in finding cures for these diseases.

Through an array of initiatives with key technical and financial partners, RG is changing the way academic institutions, industry leaders, and the scientific community address rare diseases around the world. Our keystone partners in this effort are industry leaders who are committed to changing the way rare diseases are diagnosed and treated worldwide.The RG Patient Process is designed to ensure the program is the right fit and to provide the best support to the patient and families throughout.


Research Partners

Illumina is improving human health by unlocking the power of the genome. Their focus on innovation has established them as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Their products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. Thanks to a new philanthropic program called iHope with Rare Genomics, their state of the art whole genome sequencing is given free of cost for qualifying undiagnosed children in need of the test. To learn more, visit www.illumina.com and follow @illumina.


Each year, MCW providers, physician assistants, nurse practitioners and psychologists care for more than 430,000 patients, representing more than 1.6 million patient visits. The Medical College (MCW) of Wisconsin is a major national research center, in fact, the largest research institution in the Milwaukee metro area and 2nd largest in Wisconsin. These laboratories offer diagnostic services using state-of-the-art techniques and the latest scientific discoveries to provide innovative methods in the diagnosis of genetic disorders for clinical care and research. The Genetics and Genomics Program at Children’s Hospital of Wisconsin offers many services and benefits that aren’t found anywhere else in Wisconsin. We’re the biggest genetics program in Wisconsin and are national leaders in whole genome sequencing.


Columbia University’s Medical Center is a world leader in scientific research, health and medical education, and patient care. Its core mission includes educating and training future generations of health care professionals and conducting basic research with the ultimate goal of translating discoveries into new techniques for fighting disease and improving health. The Center for Human Genetics at Columbia includes cutting-edge research in genomics and molecular diagnostics, as well as clinical practice and therapy.


ORDI was formed to address the unmet needs of patients with rare diseases in India. It will serve as an umbrella organization for patients with rare diseases and other stakeholders throughout the country. The ORDI team consists of experts in genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy, and public service. We strive to catalyze the rapid development and delivery of affordable diagnostics and treatments for rare diseases through innovative collaborations and partnerships among stakeholders to benefit patients with rare diseases in India.


EGL Genetics has been providing superior, cutting-edge service for more than 47 years. Our expertise spans common and rare genetic disease testing, genomic variant interpretation, test development, and research. EGL is a CLIA-certified and CAP-accredited laboratory. We work with clients across the United States and from more than 45 countries to help improve patient diagnosis.


Based at Sanford Research, a not-for-profit research institution, CoRDS is a centralized international patient registry for all rare diseases. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access. We work with patient advocacy groups, individuals, and researchers to coordinate the advancement of research into the 7,000 rare diseases.


The Scripps Research Institute (TSRI), one of the world’s largest, private, non-profit research organizations, stands at the forefront of basic biomedical science, a vital segment of medical research that seeks to comprehend the most fundamental processes of life. Over the last decades, the institute has established a lengthy track record of major contributions to the betterment of health and the human condition.


InVitae sequences, analyzes and interprets every requisition in-house via their CLIA-certified genetic testing lab. InVitae performs targeted sequencing of genes plus extragenic variants for all conditions in their test menu. All exons, intron-exon boundaries, and non-coding regions containing known clinical variants are sequenced using next generation sequencing. Their custom variant interpretation identifies known and novel substitutions, insertions, and deletions, including those in traditionally hard to assay sites. Following sequencing and analysis, their clinical team reviews and interprets results in the context of the clinical information provided in the ordering process.


At Stanford Medicine, world-renowned scientists are at the forefront of an immense undertaking to advance the understanding and care of human health. Researchers across disciplines delve into unsolved problems in the basic and clinical sciences to gain insight into the building blocks of life. At the same time, Stanford is a place where discoveries find real-life application, as researchers and clinicians work together to move the most promising findings into improved diagnostic, treatment and prevention strategies. Translating pioneering medical research into quality patient care defines Stanford Hospital & Clinics and Lucile Packard Children’s Hospital. It is also the leading reason why both hospitals are consistently ranked among the best in the U.S. and internationally recognized for advanced care of both adult and pediatric patients. Stanford Hospital & Clinics and Packard Children’s benefit from cutting-edge medical discoveries and innovations emanating from the Stanford University School of Medicine, one of the premiere research institutions in the world. Together, Stanford Hospital & Clinics and Packard Children’s provide the highest quality clinical treatment and care by a staff committed to a single cause – the patient.


For more than half a century, UCLA Health System has provided the best in healthcare and the latest in medical technology to the people of Los Angeles and throughout the world. Comprised of Ronald Reagan UCLA Medical Center, UCLA Medical Center, Santa Monica, Resnick Neuropsychiatric Hospital at UCLA, Mattel Children’s Hospital UCLA, and the UCLA Medical Group with its wide-reaching system of primary-care and specialty-care offices throughout the region, UCLA Health System is among the most comprehensive and advanced healthcare systems in the world.


UW Medicine’s mission is to improve the health of the public by advancing medical knowledge, providing outstanding primary and specialty care to the people of the region, and preparing tomorrow™s physicians, scientists and other health professionals. UW School of Medicine has been ranked as the No. 1 primary-care medical school in the country since 1994. UW faculty members have been responsible for many basic science and technological advances in medicine. UW Medicine researchers are international leaders in genome sciences – contributing to the revolution in next-generation DNA sequencing technology and spearheading identification of candidate genes in rare diseases, such as Miller and Kabuki Syndromes.


The McKusick-Nathans Institute of Genetic Medicine's goal is to further the understanding of human heredity and genetic medicine, and use that knowledge to treat and prevent disease. The Institute is working to consolidate all relevant teaching, patient care and research in human and medical genetics at Johns Hopkins and provide national and international leadership in genetic medicine. It serves as a focal point for interactions between diverse investigators to promote the application of genetic discoveries to human disease and genetics education to the public. It builds upon past strengths and further develops expertise in the areas of genomics, developmental genetics, and complex disease genetics. The Institute works to catalyze the spread of human genetic perspectives to other related disciplines by collaboration with other departments within Hopkins.


Parabase Genomics uses next-generation sequencing technologies including genome, exome and targeted panels to help families struggling for a diagnosis. This testing is done in a CLIA accredited lab that provides clinical interpretation of the sequence information and confirmation of disease causing variants. They have a team of innovators with expertise in genomics, pediatrics, and computational biology committed to improving the lives of children with genetic diseases.


Duke is proud to be an inclusive community of outstanding learners, investigators and clinicians where traditional barriers are low, interdisciplinary collaboration is embraced, and great ideas accelerate translation of fundamental scientific discoveries to improve human health around the globe. 21st Century medicine and medical education are evolving rapidly. Medicine is becoming “personalized” – focused on understanding and promoting the health of individual patients, rather than formulaic treatment of a list of diagnoses. Duke is proud to be at the forefront of this transformation.


Patient Advocacy Partners

Hope Knows No Boundaries helps educate patients to advocate for their medical needs, use their voice in their treatment, and create a team environment between the medical specialists, the patients, and the insurance companies.  Our three pillars are: Inspiration, Education, and Enablement.  Hope Knows No Boundaries merges the patient voice with the science of sequencing to high school biology classrooms and universities around the country, in order to plant seeds at a young age of patient empowerment and advocacy.


There are about 200 Million kids across the globe with rare disease. RARE Science accelerates finding therapies for kids with rare and undiagnosed disease by empowering patient families/foundations with tools that help with community awareness and patient outreach through our RARE Bear Program. We also drive research by pooling knowledge and providing research tools for specific diseases so we can understand the biology that is responsible for the observable traits of rare disease. This helps identify therapies that may help in the more immediate future. We unite patient families, clinicians and researchers across the globe to accelerate finding cures for the most vulnerable patients, our children!

Our RARE Bear Program plays an instrumental role in patient family support. In addition, the RARE Bears help us with patient outreach, education and awareness to improve early diagnosis and support our research programs to help accelerate finding cures for kids with rare disease.


The San Diego Undiagnosed Family Support Group brings together families of children with a rare undiagnosed disease to learn, share and support each other amidst their long journey in search of a diagnosis

 

 

 

 

 

 

 


SpecialCare4SpecialKids.com is an online resource for parents of special needs children. We provide a place for community, resources and support. Our goal is to bridge the information gap for parents, and make caring for their special needs child easier. 


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Support to study how crowdfunding leverages free market mechanisms to confront the big questions of science and the pursuit of knowledge. The work involves in-depth interviews and surveys to explore what factors contribute to successful crowdfunding, and whether can stimulate increased engagement with scientific questions. This project has the potential to stimulate crowdfunding in this sector and build a lasting impact of greater public involvement and engagement in the scientific enterprise, and a greater consideration of the big questions that follow.


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Support to develop teaching modules to on-board and train Patient Advocate Assistants (PAA). PAA's guide patients through pre- and post-sequencing and analysis.The work of a PAA is highly specialized and requires specific knowledge and expertise in genetics, sequencing, vulnerable patient interaction, and privacy.


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The genes that cause many Lysosomal Storage Diseases (LSDs) have been identified, often making genetic sequencing a useful diagnostic tool. In an effort to strengthen and optimize genetic sequencing support functions, Sanofi-Genzyme is supporting the Rare Genomics Institute in the United States and the Organization for Rare Diseases India as they work together to create training modules and educational resources for patient advocate associates, patients, caregivers, and physicians.


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Support for the IT infrastructure services that power Rare Genomics Institute.