Beneficiary

Leading the Charge in Rare Disease Research

In the United States, a “rare” disease is defined as a disease that affects fewer than 200,000 people. When so few are affected, it may seem that few will care – but not at Children’s Hospital of Philadelphia (CHOP). We at CHOP routinely see the rarest and most complex cases – cases that many other clinicians never come across in their careers. With this unparalleled experience and our commitment to multidisciplinary collaboration, we’re uniquely positioned to create life-changing results — because every child deserves to be healthy.

What Inspires Us to Cheers

Breakthrough research in the below areas translates into more precise and personalized care for patients with rare diseases, no matter how unique or complex the case. Your donations make it possible for these children to have brighter futures.

Pioneering Gene Therapy

Nearly all current FDA-approved gene therapy drugs involved CHOP teams, with one-third emerging from CHOP labs. We were a trial site for a third of approved therapies, showcasing our integral role in advancing treatments.

Trailblazers in Hemophilia

Our leadership in hemophilia gene therapy has paved the road for others in the field, setting standards and best practices.

Comprehensive Research Impact

CHOP’s rare disease basic and translational research touches every organ system and has the potential to cure patients, highlighting our commitment to holistic health solutions.

Innovative and Efficient Development

CHOP is a global leader in developing newer and more translatable gene therapies for rare diseases, enabling us to advance best-in-class medicines without the time-consuming processes typically associated with federal funding or commercial development. Without this expedited approach, many children would face dire outcomes or be ineligible for care.