RARE Community Corner

December 15, 2020

Rare disease advocacy groups around the world are making innovative and unprecedented strides every day to break down silos for the benefit of the rare disease community. Learn more about our rare disease partners who are doing groundbreaking work and are celebrating rare disease through their global efforts and initiatives. 


CHAMP1 Research Foundation

According to the National Institutes of Health, with rare diseases like Champ 1, since there’s little known and not many people impacted, families are responsible for raising the money to get doctors to research it. Once research is underway it could then possibly become of interest to the NIH. The process is expected to take at least three years, but for families like the D’Angelo’s it’s their only hope.



Chan Zuckerberg Initiative: The Rare As One Project

Rare disease is anything but rare. As many as 7,000 rare diseases affect 400 million people globally. The vast majority are not well understood, and less than 5% have approved treatments. Yet worldwide, patients are meeting these challenges head on. The Rare As One Project is committed to uniting these communities in their quest for cures.



Cures Within Reach: CureAccelerator Live! for Rare Diseases, June 2020

CureAccelerator Live! for Rare Diseases is a philanthropic pitch event organized by Cures Within Reach and held during Global Genes’ RARE Drug Development Symposium in June. This year’s virtual event featured 5 clinician/researchers from across the US presenting their clinical repurposing trials for impacting 5 different rare diseases, including mantle cell lymphoma, myeloproliferative neoplasms, pediatric acute lymphoblastic leukemia, pediatric acute myeloid leukemia and retinitis pigmentosa.  Attendees voted on the winner, who won $50,000 for the project.



The EveryLife Foundation for Rare Diseases

The EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.  We do not speak for patients; we provide the training, education, resources and opportunities to make your voice heard.   Join us for Rare Diease Week on Capitol Hill July 19-22, 2021 and make sure Congress hears your voice!  Together we can change public policy and save lives. #EveryVoiceMatters



Genetic Alliance: Promise for Engaging Everyone Responsibly (PEER)

Sharon Terry, CEO of Genetic Alliance and PXE International, describes the Promise for Engaging Everyone Responsibly (PEER). This is a data sharing platform in which those who participate own the platform, can share their patient reported outcomes, their EHR, and any genetic data they wish. Visit us at



Haystack Project

Meet the Voices of Rare & Ultra Rare and discover the purpose of the Haystack Project.


Haystack Project – for Global Genes 2020-09 from Dreambuilders Resources on Vimeo.


MLD Foundation

MLD is excited for 2021- It’s our 20 year anniversary, gene therapy registration has been filed in the EU and is coming to the US, ScreenPlus newborn screening pilot study will be underway, RUSP nomination will be filed and we’ll be working on NBS implementation state by state. Learn more here!


MLD Update for Global Genes Conference 2020-09 from Dreambuilders Resources on Vimeo.


Project 8p

We are driven by a simple question: What can we do for our child, family member, friend, or patient impacted by this diagnosis? We’re committed to leaving no stone unturned in order to help 8p heroes in a meaningful wayResearchers are trying to uncover which genes are crucial, how they work, and what treatment options are possible to work towards finding a cure for 8p.




Rare Access Action Project (RAAP)

Founded in 2017, RAAP is a non-profit committed to exploring structural issues in coverage and access to help ensure rare disease patients have access to the care and treatments that they need.  We look forward to collaborating with Global Genes and are happy to share this video which highlights a rare disease patient who suffers from HoFH.  A powerful story that reminds all of us who we are fighting for and how important our work is for rare disease patients.




Patient Engagement and Data Leaders, Megan O’Boyle and Vanessa Vogel-Farley, introduce RARE-X and the RARE-X federated data platform.  Megan and Vanessa explain how the platform RARE-X is building enables rare patient communities to gather, structure, and securely share critical patient data, through a common platform, in collaboration with researchers, drug developers, and clinicians anywhere in the world. RARE-X will accelerate diagnosis, disease understanding, and development of future treatments and cures across all rare diseases.



Tuberous Sclerosis Alliance: TSC Biosample Repository and Natural History Database.

The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex (TSC) while improving the lives of those affected.  To better understand why people are impacted  so differently by this disorder and with the aim to eventually be able to better predict its course, our organization invested in a TSC Biosample Repository and Natural History Database. This video demonstrates how we collaborate with TSC individuals and families as well as partners like Seizure Tracker and how other advocacy groups might also consider collecting data in innovative ways.



Uplifting Athletes: Uplifting Athletes Young Investigator Draft

Check out the highlights of the 2020 Uplifting Athletes Young Investigator Draft! Uplifting Athletes works to leverage the platform that athletes have in this country, and around the world, to inspire hope and progress in the Rare Disease Community. Each year we fund early stage, translational, rare disease research through our Young Investigator Draft, modeled after the NFL Draft. 


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