Semmelweis University is the largest Rare Disease Expert Centers in Hungary. Cutting edge technology enables the establishment of the most accurate diagnosis and treatment. Patient care at the university is an integral part of the education of medical and health care professionals, which is acknowledged worldwide. The Semmelweis Rare Disease Network was established in 2012 and offers several diagnostic serves for patients with rare disorders.
In the ERN-NMD the I. Department of Pediatrics (representative is Agnes Herczegfalvi) and the Institute of Genomic Medicine and Rare Disorders (representative is Maria Judit Molnar) are participating. These departments offers a comprehensive state of the art, patient-centered care for patients with neuromuscular disorders including neurophysiology, imaging, genetic testing, neuropathological investigations and genetic counselling as well. Semmelweis University’s neuromuscular research covers a broad range of basic and clinical studies. The university is part of the TREAT-NMD Network. Our Neuromuscular Rare Disease Expert center offers several courses focusing on rare neuromuscular disorders (from improving clinical skill to bioinformatic interpretation of NGS data). Semmelweis University has a close collaboration with several rare disease patients organsations.