A leading geneticist and a pediatric cardiologist with expertise in lymphatic disorders co-led a team effort to translate knowledge of the affected biological pathway into an innovative treatment, repurposing an existing drug that caused the abnormal lymphatic system to remodel itself. This unexpected result may form the basis of a new therapy for this type of defective lymphatic circulation.
"This case is a dramatic example of implementing a precision medicine treatment for a life-threatening rare disease," said study leader Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at Children's Hospital of Philadelphia (CHOP). "We discovered a causative gene mutation in two patients, identified an existing drug that acts on that gene's pathway, showed that the drug relieves the condition in lab animals, and then successfully treated the original patient."
Hakonarson - Cardiologist - Yoav - Dori - MD
Hakonarson collaborated with pediatric cardiologist Yoav Dori, MD, PhD, from the innovative Center for Lymphatic Imaging and Interventions, based at CHOP. "Our patient suffered from a lymphatic conduction disorder known as a central conducting lymphatic anomaly," said Dori. "The gene mutation drove uncontrolled proliferation of abnormal lymphatic vessels, leading to leak of lymphatic fluid, edema and respiratory difficulties. Because we were able to repurpose an existing drug to block the signals causing the dysregulated growth, we caused our patient's lymphatic channels to reshape themselves into a more normal anatomy and function, and dramatically improved his condition."
The study team published their findings online today in Nature Medicine.
System - Circulation - Dori - System - System
"The lymphatic system is sometimes called 'the forgotten circulation,'" said Dori, who added that the lymphatic system interacts with the cardiovascular system, absorbing and returning fluid from tissues back to the venous circulation. As lymphatic fluid circulates through the body, it has a crucial role in immune function as well as fat and protein transport. Abnormal lymphatic flow, which often goes undiagnosed, may cause fluid...
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