Researchers at Children’s Hospital of Philadelphia (CHOP) utilized advanced “deep sequencing” methods to identify previously undetected genetic variants associated with vascular anomalies. This innovative approach captured genetic variants present at low frequencies in patient tissue samples, leading to the development of tailored therapies. Over 60% of involved patients experienced significant improvements after beginning targeted treatments based on these findings, which were published in Nature Medicine. Vascular anomalies can be serious, causing deformities or impairing vital organ functions, and if untreated, may become life-threatening.
The study focused on genetic testing in a cohort of 356 patients, discovering that many had somatic mutations undetectable by traditional methods. Deep sequencing revealed variants in 41% of patients with primary complex lymphatic anomalies. This thorough genetic profiling enabled a molecular diagnosis and informed treatment plans, directly benefiting patient care.
CHOP’s Comprehensive Vascular Anomalies Program combines genomic research with multidisciplinary clinical expertise, offering new hope for pediatric patients suffering from rare vascular conditions. This research underscores the potential for non-invasive diagnostic techniques and further advancements in understanding and treating vascular anomalies.
