Livija Medne, MS, LCGC

Ms. Medne is a senior genetic counselor in the Divisions of Human Genetics and Neurology and a co-director of the Roberts Individualized Medical Genetics Center (RIMGC) at The Children’s Hospital of Philadelphia. For the last 15 years, she has specialized in neuromuscular and neurogenetic disorders and served as a CHOP co-investigator for several clinical research trials and patient registries. As a genetic counselor, her goal is to facilitate accurate and genetically confirmed diagnoses for all children with suspected neuromuscular disorders and other diagnoses. More recently, she has developed expertise in large-scale genomic testing and played a critical role in developing the RIMGC program at CHOP to allow for the incorporation of genomic testing into clinical practice. With the increasing number of testing options and modalities, it is critically important that each and every individual gets access to the right test at the right time. Ms. Medne has developed significant expertise in interpreting genetic testing results for neuromuscular disorders, including RYR-1-related diseases. While many genetic neuromuscular diagnoses still lack targeted therapies, they can be notably better managed and treated when the exact molecular diagnosis is known.