The Orphan Disease Center is an external-facing organization of the University of Pennslyvania 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.
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 Ashley Winslow at firstname.lastname@example.org to find out more.
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.