National Institute of Environmental Health - NIEH

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.

Address
National Center for Public Health
Dept. of Molecular Genetics and Diagnostics
1097
Budapest
Gyáli u. 2 - 6
Hungary

Email

Website http://efrirk.antsz.hu/oki
Website www.treat-nmd.hu

Call +361 476 1362

 

Marta Garami Marta Garami

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.

 

Agnes Herczegfalvi Agnes Herczegfalvi

Dr. Agnes Herczegfalvi MD, PhD is a pediatric neurologist and member of the National Standardization Committee of Neurologists.

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Gabriella Oberrecht

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

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Henriett Piko Henriett Piko

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.

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Laszlo Timar Laszlo Timar

Dr. Laszlo Timar, MD is a genetic counsellor at National Institute of Children’s Health in Budapest.

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Judit Sándor Judit Sándor

Judit Sándor is a professor at the Faculty of Political Science, Legal Studies and Gender Studies of the Central European University (CEU), Budapest.

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Beáta Dudás Beáta Dudás

Beáta graduated as a bioengineer (MSc) at the Budapest University of Technology in 2003 and as a biomedical engineer (MSc) in 2006. After dealing with biophysics she has been working on diagnostics of neuromuscular dideases since 2009.

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