Children's Memorial Health Insititute
The Children’s Memorial Health Institute is the largest pediatric hospital in Poland with 600 beds, as well as a research insitute whose achievements are recognized in the country and abroad. For 30 years there were have been treating children form every part of Poland suffering from the most difficult and rare diseases. It sets the standards of highly specialized pediatric care, introduces novel forms of therapy and provides treatment according to high international standards. Institute has been awarded numerous research grants from the Ministry of Health and the Ministry of Science, international grants as part of V,VI,VII Framework EU Cooperation Projects, and is involved in multicenter trials in cooperation with academic centres in Europe.
The Department of Neurology and Epilepsy activities are the diagnosis and treatment of extrapyramidal syndromes and movement disorders, neurodegeneration diseases, as NBIA-PKAN and MPAN, Wilson disease, neuronal ceroidolipofuscinosis, rare neurometabolic diseases, leukodystrophies, genetic diagnosis and novel treatment of tuberous sclerosis, demyelinating diseases, multiple sclerosis, ataxia telangiectasia, Sturge-Weber syndrome, diagnosis and treatment of all forms of epilepsy.
Dr Tomasz Kmiec has been working clinically and scientifically on neurogenetic disease, neuronal ceroid lipofuscinosis, mitochondrial cytopathies (MELAS, Leigh’s syndrome), leukodystrophies, biotine deficiency, lysosomal diseases, NBIA. He has extensive experience in NBIA, he currently cares for patients with PKAN, MPAN. Dr Kmiec has successfully collaborating for many years with TIRCON members, in particular TUM, including mutual research visits in the fields of NBIA.
Main tasks in consortium
• Leader of WP1 (Patient registry and natural history study)
• Partner in WP4, WP6