Resources
Empowers the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments, and cures.
Globally connected community committed to eliminating the challenges of rare disease. Global Genes is committed to providing information, resources and connections to all communities affected by rare diseases.
The National Organization for Rare Disorders (NORD) offers a database of approximately 1,300 reports on specific rare diseases written in patient-friendly language on its website.
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GeneDx believes personalized medical care starts with a genetic diagnosis. Fueled by one of the world’s largest, rare disease data sets, GeneDx's exome and genome testing turns complex data into actionable insights for tailored treatment and improved outcomes. Need to access testing? GeneDx teamed up with Genome Medical to make it easier for families to access genetic counselors and testing – helping uncover answers and guide personalized care. https://www.genedx.com/get-exome/?utm_source=rare-documentary&utm_medium=referral&utm_campaign=gm-pathway
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The AMP Bespoke Gene Therapy Consortium (BGTC) aims to develop platforms and standards that will speed the development and delivery of customized or ‘bespoke’ gene therapies that could treat the millions of people affected by rare diseases.
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Act to save the lives of people with ultrarare diseases.
Treatments remain out of reach for the rarest diseases due to outdated policies that have not kept pace with scientific advancements. If the current system is not modernized, innovation will continue to be stymied and children will continue to die. We cannot afford to let diseases go untreated when the science to provide a treatment exists.
Rare Disease Bootcamp
https://www.ultragenyx.com/rare-entrepreneur-bootcamp/
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The goal of the Ultragenyx bootcamp is to to empower patient family organizations with guidance and tools and help facilitate their development of life-changing rare disease treatments
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The most complete listing of rare diseases in the U.S. is on the website of the NIH Genetic and Rare Diseases Information Center (GARD).
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This roadmap by Global Genes is designed to put you in the driver’s seat and in control of how to move your research forward. Whether you are an individual, advocate, or organization, this roadmap was created to help you better understand some of the potential routes to treatment and some of the key concepts that are part of these processes.
Podcasts
RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
Once Upon a Gene is a podcast that explores the world of raising children with disabilities and rare genetic disorders.