Rare Disease Community Resources

The Orphan Disease Center is an external-facing organization of the University of Pennsylvania that supports and advocates for rare disease groups  across the globe.  Here, you will find information about events, funding opportunities, patient and caregiver services, strategic collaborations, and various programs offered by other rare disease foundations, patient groups, clinicians, researchers and industry members who are making notable progress in the rare disease space.

During this time of a global pandemic, the ODC remains a committed partner to the rare disease community. Now more than ever, we recognize the need for continued scientific progress and therapeutic development. While we work to fulfill this mission, please take note of a few resources to help patients, families, caregivers, and clinicians navigate this challenging time. 

  1. National Organization for Rare Disorders (NORD) COVID-19 Resource Center 
  2. Global Genes COVID-19 Resources 
  3. EveryLife Foundation COVID-19 Action Center 
  4. National MPS Society COVID-19 & MPS/ML Information and Support 
  5. American Academy of Neurology COVID-19 Neurology Resources 
  6. American Epilepsy Society COVID-19 Patient and Family Resources 
miracle flights

Miracle Flights provides individuals and families free medical flights to distant, specialized care and valuable second opinions. We have #acurefordistance. To learn more or to request assistance with a flight, please visit www.miracleflights.org or call 1-800-359-1711.

•  What we do: We fly individuals and families to treatment, second opinions, follow-up visits and clinical trials from the U.S. to U.S.-based treatment centers.

•  Experience: We are a nonprofit in operation for 33 years.

•  Reach: Primarily rare disease focused, we are not disease specific.

•  Passengers: We coordinate and book flights, free of charge, through commercial airline partners for a sick child & both parents/guardians or a sick adult & 1 caregiver.

•  Mileage: Distance is never an issue and there is no limit to the number of times a family or individual can request a flight.

•  Speed/Accessibility: We only need two weeks notice before a medical appointment (though we understand that urgent flights are at times necessary).


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The Jackson Laboratory (JAX)

Animal models of disease are an important part of translational research. Mouse models are used in medical research because their genetic, biological, and behavioral characteristics often mimic aspects of human disease. Mouse models help researchers to understand the pathophysiology of the disease and often provide us with preclinical insights into the efficacy of potential new therapeutics.  This is especially important in rare diseases, where small patient populations sometimes limit our understanding of the disease course and presentation.   Through our commitment to accelerating therapeutic development for rare diseases, the Orphan Disease Center is excited to work with The Jackson Laboratory (JAX) to facilitate access to new genetic animal models of human disease.

Learn more about how The Jackson Laboratory is developing and distributing hundres of customized mouse models and collaborating with foundations and scientists from around the world to facilitate research into treatments of rare diseases.

If you are a parent, patient group, or foundation focused on facilitating research for a rare disease and you think there is a need for a genetic mouse model, please email Jess Conicelli to find out more.


Rare Genomes Project

If you or a loved one is still genetically undiagnosed, join a patient-driven research study to discover the genes underlying your family’s condition. Please visit raregenomes.org to learn more and say “count me in” today.