Our Challenge
A Rare, Mysterious Illness
A 10-year-old boy was diagnosed with a rare disorder that caused leaks in his lymphatic system, resulting in painful swelling and severe respiratory problems.
Our Breakthrough
Using a Drug to Target a Genetic Mutation
Provides first real evidence for complete remodeling of an entire organ system by a drug
Our Solution
DNA Sequencing
CHOP cardiologist Yoav Dori, MD, PhD, and CHOP pulmonologist Hakon Hakonarson, MD, PhD, sequence the patient’s DNA and identify the mutation causing the condition. They then identify an existing drug, commonly used to treat melanoma, that targets the same mutation.
Our Impact
Giving a Child a Normal Life
Just months after the patient received the drug, MRIs show that his lymphatic system has remodeled itself – and the leaks are gone. Today, he’s living a normal life.
Yoav Dori, MD, PhD
Director, Jill and Mark Fishman Center for Lymphatic Disorders and Lymphatic Research
Hakon Hakonarson, MD
Director, Center for Applied Genomics
Help Us Find Solutions
We find real-world, scalable solutions to seemingly intractable problems. Led by the greatest minds in medicine, and with support from our generous donors, our world-renowned teams are taking on the toughest diseases the world has ever seen – and winning.
Epilepsy
Cell Therapy
