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

Swelling in legs - Before and after

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 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.

Dr. Dori action shot
Lymphatics patient Daniel

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.

Meet Daniel

Our Team

World-renowned Experts in Genetics and Lymphatics

Our experts invented the field of lymphatic imaging and interventions – and now they are helping to move this exciting work forward.

Dr. Dori bio photo

Yoav Dori, MD, PhD

Director, Jill and Mark Fishman Center for Lymphatic Disorders and Lymphatic Research

Dr. Hakonarson bio photo

Hakon Hakonarson, MD

Director, Center for Applied Genomics

Moving Ahead

Finding More Answers

CHOP is expanding an existing program in complex vascular anomalies that investigates the underlying genetic mutations that impair normal development of blood or lymphatic vessels.

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.

Scientific image collage