Partners

We are grateful to be in this research journey with the support of other groups. We cannot do this work alone and are proud of our partnerships that help advance our work. Our key partnerships are listed below in alphabetical order.

Organizational partners

Bohring-Opitz Syndrome Foundation

The BOS Foundation provides support to families living with Bohring-Opitz Syndrome, including a scholarship program to fund adaptive equipment, home modifications, and other financial needs. They also host a family meet-up every other year in the Philadelphia area.

 

COMBINEDBrain: Consortium for Biomarkers and Outcome Measures in Neurodevelopmental Disorders

The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain) is a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurological disorders by pooling efforts, studies, and data.

 

DEE-P Connections

DEE-P Connections is a consortium of patient advocacy organizations that represent conditions with severe Developmental & Epileptic Encephalopathies (DEEs). Through our partnership with DEE-P Connections and its member groups, we are bringing the ASXL community better access to information about severe epilepsies and related conditions. DEE-P Connections has a robust resource library and a growing calendar of virtual family education events related to medical management.

 
Logo with a stylized pair of blue jeans with the legs intertwined like the double helix of DNA. To the right of the image are the words Global Genes RARE Foundation Alliance.

Global Genes

Global Genes connections the rare disease community around the world. As member of the RARE Foundation Alliance, we are part of a coalition of over 750 nonprofit patient advocacy organizations. This partnership provides us with access to additional funding opportunities and educational programs hosted by Global Genes, as well as invaluable connections to other rare disease organizations with similar missions.

 

JumpStart Program

The JumpStart Program, a project of the Orphan Disease Center at the University of Pennsylvania’s School of Medicine, partners with rare disease organizations to provide scientific advising and connections to the research community.

 

Leo’s Lighthouse

Leo’s Lighthouse is a family-led organization that raises funds for research for Bainbridge-Ropers Syndrome.

 

National Organization for Rare Disorders (NORD)

NORD is a source of resources and connections for the entire rare disease community. As a NORD member organization, we use NORD’s capacity-building resources to expand our work using best practices defined by other rare disease nonprofits. NORD also offers financial assistance programs for individuals living with rare disease.

 

Overgrowth Syndromes Alliance

The Overgrowth Syndromes Alliance (OSA) is a united group of patient advocacy organizations representing a range of overgrowth disorders. OSA’s mission is to align the interests and resources of overgrowth syndrome patient advocacy organizations and prioritize research for treatments and cures, especially those benefiting the greatest number of patients. The ARRE Foundation is part of the OSA on behalf of the Shashi-Pena Syndrome (ASXL2) community.

 

Rare Epilepsy Network

The Rare Epilepsy Network (REN) is a consortium of rare disease patient advocacy groups whose conditions include epilepsy. REN’s mission is to work with urgency to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy.