National Institute of Environmental Health – NIEH

The Department of Molecular Genetics and Diagnostics at the National Institute of Environmental Health in Hungary is specialised in the DNA diagnosis of neuromuscular disorders. The laboratory was established in 1993 and performs diagnostic activities as the only centre in Hungary for spinal muscular atrophy, Charcot-Marie-Tooth type 1A, facioscapulohumeral dystrophy, myotonic dystrophy type 1, congenital myasthenic syndrome and fragile X(A) syndrome. Although Duchenne/Becker muscular dystrophy is also diagnosed in other centres in Hungary, this laboratory is the only one which provides deletion/duplication screening for the entire dystrophin gene, therefore most of the families are sent here for diagnosis, including prenatal cases. SMA families are exclusively sent to NIEH for diagnosis, carrier analysis and prenatal diagnosis. DNA and muscle samples of patients with LGMD and CMD are also collected and protein and DNA analyses of the patients are performed by international collaboration.

The department maintains a DNA bank and a database of clinical symptoms and identified/unidentified mutations of 2729 patients/family members with neuromuscular diseases since 1993. It participated in the EUROBIOBANK project funded by the FP5. It has a nationwide collaboration with paediatric neurologists, neurologists, genetic counsellors of clinics and hospitals in Hungary, as well as a long-term international scientific collaboration with LMU Munich Dept. of Neurology (Germany) and with departments of Human Genetics of the Universities of Turku (Finland) and Leiden (The Netherlands). From time to time, diagnostic services are also provided mainly in SMA, DMD/BMD and FSHD patients from other Eastern-European countries, like Rumania, Bosnia, Croatia, Bulgaria.

NIEH is involved in Activity 04 (Databases and Biobanks).
Main objectives of the WP 04.2:
The key objective of our institute is to create and maintain a TREAT-NMD Patient Registry for Spinal Muscular Atrophy and Duchenne/Becker Muscular Dystrophy in the Eastern-European countries. The existence of the national patient registries is crucial for the future therapeutic trials.