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.

For further details please visit the NIEH website

or contact


Head of Department of Molecular Genetics and Diagnostics
 
National Center for Public Health
Dept. of Molecular Genetics and Diagnostics
1096 Budapest
Gyáli út 2-6.
HUNGARY
T: (+361) 476 1362
 

Dr. Veronika Karcagi, PhD is Head of Department of Molecular Genetics and Diagnostics at the National Institute of Environmental Health in Budapest. She graduated as a biologist MSc. at the Eötvös Lorand University, Budapest in 1975. In 1996 she received her PhD degree in neurobiology and in 1998 her certification in human genetics. She acts as the national coordinator of EMQN for Hungary. She is member of the Hungarian National Standardization Committee of Clinical Geneticists since 2004. She is also member of executive committee of the Hungarian Society of Clinical Neurogenetics since 1997 and is the general secretary of the Hungarian Society of Human Genetics since 2004, the member of National Avisory Board of Clinical Genetics since 2009.

In relation to this project, she works as a Database Curator for TREAT-NMD for Eastern-European Countries.

Marta Garami biologist, PhD. She graduated as a biologist MSc. at the Eötvös Lorand University, Budapest in 1975.

She is employed as a TREAT-NMD database manager for Eastern-European Countries.

Henriett Piko has been a staff member since 2003. She is molecular
biologist, PhD. She graduated as a biologist MSci n 2000 at the Kossuth
Lajos University, Debrecen.. In 2009 she received her PhD degree in
molecular diagnosis of Hungarian DMD/BMD patients. She is an expert on
DMD/BMD and LGMD diagnosis.

Dr. Agnes Herczegfalvi MD, PhD is a pediatric neurologist and member of the National Standardization Committee of Neurologists. She is the leader of neuromuscular Diseases Centre, Heim Pál Children's Hospital, 1089 Budapest Üllo"i út 86. She is the key person in clinical diagnosis of Hungarian DMD and SMA patients and therefore contributes to WP04.2 In addition, she is member of the Project Ethics Council (PEC; A14).
 

Dr. Laszlo Timar, MD is a genetic counsellor at National Institute of Children’s Health in Budapest. There is a long-term collaboration with him on SMA and other NMDs. He acts as an expert on ethical issues, genetic counselling and prenatal diagnosis.
 

Mrs Gabriella Oberrecht is the president of the Hungarian Patient Association for Duchenne Muscular Dystrophy