National Institute of Environmental Health
The National Institute of Environmental Health (NIEH) is the core scientific research basis of environmental health and the methodological center the National Public Health and Medical Officer Service in Hungary.
The laboratory was established in 1993 and performs diagnostic activities for the whole country in spinal muscular atrophy (SMA), Charcot-Marie-Tooth type 1A (CMT1A), facioscapulohumeral dystrophy (FSHD), dystrophia myotonica type 1(DM1), congenital myasthenic syndrome (CMS) or in neurological diseases like fragile X(A) syndrome.
The laboratory has much experience in diagnosing disorders as Duchenne/Becker muscular dystrophy (DMD/BMD), Limb Girdle Muscular Dystrophies (LGMD) and mitochondrial disorders. Thus, the laboratory serves as diagnostic reference centre for neuromuscular diseases within hungary.
The department maintains a dna biobank and a database of clinical symptoms of 3809 patients and family members with identified or yet unidentified mutations since 1993.
In addition to the diagnosis of the NMDs, this team has skills in international quality harmonization and guidelines for genetic services and ethical issues.
Dr. Veronika Karcagi, PhD is Head of Department of Molecular Genetics and Diagnostics at the National Institute of Environmental Health in Budapest.
She is a molecular and human geneticist, head of her department and the national coordinator for Hungary of the European Molecular Genetic Quality Network. Her expertise lies in SMA, DMD/BMD, FSHD, LGMD, CMT and quality issues.
She graduated as a biologist MSc. at the Eötvös Lorand University, Budapest in 1975 and in 1996 received her PhD degree in neurobiology followed by her certification in human genetics in 1998. 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.
In relation to this project, she works as a Database Curator for TREAT-NMD for Easter-European Countries.
Judit Sándor is a professor at the Faculty of Political Science, Legal Studies and Gender Studies of the Central European University (CEU), Budapest. In 1996 she received Ph.D. in law and political science. She was one of the founders of the first Patients' Right Organization (‘Szószóló’) in Hungary, she is a member of the Hungarian Science and Research Ethics Council, and works also at the Hungarian Human Reproduction Commission.
In 2003 she was appointed as an expert for the Prime Minister’s Advisory Committee on Human Genetics. She participated in different national and international standard setting activities in the field of biomedical law.
In 2004-2005 she worked as the Chief of the Bioethics Section at the UNESCO. She published six books in the field of human rights and biomedical law. Since September 2005 she is a director of the Center for Ethics and Law in Biomedicine (CELAB) at the Central European University.
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.
Within this project her role is to perform NMD chip testing during the validation phase and analyze the data with bioinformatic tools.