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Article ; Online: It is time to take timing seriously in clinical genetics.

Kosztolányi, György

European journal of human genetics : EJHG

2015 Volume 23, Issue 11, Page(s) 1435–1437

Abstract: Observations made by molecular techniques on the genome along the individuals' lifetime indicate that the genome in somatic cells displays changes at molecular, cellular, and organismal levels. Timing of genetic events leading to somatic mosaicism and ... ...

Abstract	Observations made by molecular techniques on the genome along the individuals' lifetime indicate that the genome in somatic cells displays changes at molecular, cellular, and organismal levels. Timing of genetic events leading to somatic mosaicism and gene expression dynamism results in a highly important variable for comprehending the role of genetics in health and disease. Consideration of time in clinical genetics should be enthusiastically invested into research strategy, interpretation of the results, diagnostic routine, and particularly in ethical discussions.
MeSH term(s)	Gene Expression ; Genetics, Medical/ethics ; Genetics, Medical/legislation & jurisprudence ; Genome, Human ; Humans ; Mosaicism ; Mutation ; Phenotype
Language	English
Publishing date	2015-11
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2014.271
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Article: Ritka Betegségek Nemzeti Terve.

Kosztolányi, György

Orvosi hetilap

2014 Volume 155, Issue 9, Page(s) 325–328

Abstract: The rarity of low prevalence diseases and the lack of information, research, diagnosis, treatment and expert availability may mean that the people affected do not benefit from the health resources and services they need. Rare diseases are considered to ... ...

Title translation	Hungarian national plan and strategy for rare diseases.
Abstract	The rarity of low prevalence diseases and the lack of information, research, diagnosis, treatment and expert availability may mean that the people affected do not benefit from the health resources and services they need. Rare diseases are considered to have little impact on society as a whole, yet they pose serious difficulties for sufferers and their families. By the end of the last century, two robust achievements in science and technology, i.e. the biotechnological and informatics revolutions, have created a real base for global approach to rare diseases by coordinating the capacities for health care, biomedical research and drug development and pooling the very limited resources available both nationally and transnationally. The European Commission has taken a number of actions which help patients and professionals to share expertise and information across borders with the objective of reducing the number of people suffering from these types of diseases. These actions together form the legal basis of the European Union policy on rare diseases. Orphan or rare diseases are now one of the priorities in the public health programmes in European Union. In 2009, the document "European Union Council Recommendation on an action in the field of rare diseases" was released with the main goal to provide national health authorities with supporting tools for the development and implementation of national plans and strategies for rare diseases by the end of 2013. This recommendation adopted by European Union Member States, allows common policy guidelines to be shared everywhere in Europe. By September 2013 the Hungarian National Plan for Rare Diseases, a health policy strategy until 2020 was finalized. The present report gives a short view on the document.
MeSH term(s)	Biomedical Research ; Consumer Organizations ; Education, Medical, Continuing ; European Union ; Health Policy/legislation & jurisprudence ; Health Policy/trends ; Humans ; Hungary ; National Health Programs/legislation & jurisprudence ; National Health Programs/trends ; Patient Advocacy ; Public Health ; Rare Diseases/diagnosis ; Rare Diseases/drug therapy
Language	Hungarian
Publishing date	2014-03-02
Publishing country	Hungary
Document type	English Abstract ; Journal Article ; Review
ZDB-ID	123879-6
ISSN	1788-6120 ; 0030-6002
ISSN (online)	1788-6120
ISSN	0030-6002
DOI	10.1556/OH.2014.29820
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Article ; Online: Hypothesis: epigenetic effects will require a review of the genetics of child development.

Kosztolányi, György

Journal of community genetics

2011 Volume 2, Issue 2, Page(s) 91–96

Abstract: The worldwide prevalence of developmental disorders in children including birth defects, mental dysfunctions, as well as early-life abnormalities leading to the predisposition for adult diseases is one of the major unsolved problems in medicine and ... ...

Abstract	The worldwide prevalence of developmental disorders in children including birth defects, mental dysfunctions, as well as early-life abnormalities leading to the predisposition for adult diseases is one of the major unsolved problems in medicine and societies. Child development is influenced by both genes and the environment; however, the role of the environment is more emphatic, since the genome is most vulnerable to environmental factors during early development due to the high cellular differentiation rate. This inherent characteristic of child development lays the stress on a probabilistic rather than a deterministic view with regard to the manifestation of developmental disorders. Therefore, the analysis of gene-environment interactions in child development, beyond providing information about the developmental disorders of children, has an additional value that contributes to the knowledge on epigenetics in general and the interface between the genome and the environment playing a significant part in causing a wide range of diseases, in particular. The present study, rather than attempting to give a complete overview on epigenetics, is intended to illustrate that the issue of child development is an attractive target to extend the scope of genetics both in health and disease. Since the results might be extrapolated to the understanding of the pathomechanism of many age-dependent multifactorial diseases, the importance of studying gene-environment interaction in child development also lies in identifying new and potentially modifiable risk factors for diseases that are, therefore, of public health significance.
Language	English
Publishing date	2011-02-20
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2543127-4
ISSN	1868-6001 ; 1868-310X
ISSN (online)	1868-6001
ISSN	1868-310X
DOI	10.1007/s12687-011-0044-2
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Article: Az első posztgenom évtized az orvostudományban.

Kosztolányi, György

Orvosi hetilap

2010 Volume 151, Issue 51, Page(s) 2099–2104

Abstract: The first decade after the announcement of the draft sequence of human genome has brought spectacular advances in basic science, however, the fact that human health did not benefit that much caused disappointment, as well. In order to explore the causes ... ...

Title translation	First decade of post-genomic era. Hopes, disappointments, new answers.
Abstract	The first decade after the announcement of the draft sequence of human genome has brought spectacular advances in basic science, however, the fact that human health did not benefit that much caused disappointment, as well. In order to explore the causes of the absence of revolution in medicine, beside the extension of research strategy new conception about the role of genetics in health and disease should also be considered. In order to resolve the disappointments, the author recommends a new perspective to view the role of genetics in health and diseases. When the contribution of recent research results is evaluated not only in the original transgenerational aspect but also in developmental aspect of genetics, some questions about the genomic medicine might be clearer. This review discusses the advantage of this concept in (1) clinical interpretation of the findings of molecular technologies, (2) understanding the novel concept of gene-environment relationship, and (3) organizing the health service delivery through reasonable professional competences. The developmental aspect of genetics is suggested to consider in future research strategy, interpretation of the results, understanding the role of genes and environment in health and disease, and construction of health service delivery system in genomic medicine.
MeSH term(s)	Animals ; Epigenomics/trends ; Genetics/trends ; Genome ; Genome, Human ; Genomics/education ; Genomics/trends ; Humans ; Molecular Biology/education ; Molecular Biology/trends ; Molecular Diagnostic Techniques ; Professional Competence
Language	Hungarian
Publishing date	2010-12-19
Publishing country	Hungary
Document type	English Abstract ; Journal Article
ZDB-ID	123879-6
ISSN	1788-6120 ; 0030-6002
ISSN (online)	1788-6120
ISSN	0030-6002
DOI	10.1556/OH.2010.29014
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Article: The genetics and clinical characteristics of constitutional ring chromosomes.

Kosztolányi, György

Journal of the Association of Genetic Technologists

2009 Volume 35, Issue 2, Page(s) 44–48

Abstract: Constitutional ring chromosomes are generally believed to be the result of de novo breakage of both end-segments of a chromosome during meiosis or early postzygotic mitosis, with the ends joining to give a continuous ring. This mechanism presumes the ... ...

Abstract	Constitutional ring chromosomes are generally believed to be the result of de novo breakage of both end-segments of a chromosome during meiosis or early postzygotic mitosis, with the ends joining to give a continuous ring. This mechanism presumes the loss of some genetic material during ring formation. Ring chromosomes thus represent deletions of genetic material. But an accurate delineation of identifiable syndromes is not possible in the majority of cases even when the patients have apparently identical ring chromosomes and phenotypic charactristics. In many patients with a ring, independent of the chromosome involved, there is a similar clinical phenotype characterized by the presence of extreme growth failure without major malformation, with only a few or no minor anomalies and mild to moderate mental retardation. This phenotype is generally referred to as "ring syndrome." The description of the features of this chromosome anomaly has to-date been based on standard cytogenetic banding techniques. However, recent observations made with novel molecular techniques have brought new insights into the nature of ring chromosomes, contributing to the understanding of the genetic and clinical consequences. This review examines constitutional rings and is based on the generally accepted "classical" knowledge but also takes into consideration new molecular findings.
Language	English
Publishing date	2009-05-14
Publishing country	United States
Document type	Journal Article
ISSN	1523-7834
ISSN	1523-7834
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Article: 3. Risk Assessment.

Kosztolányi, György

EJIFCC

2008 Volume 19, Issue 1, Page(s) 13–21

Language	English
Publishing date	2008-04-03
Publishing country	Italy
Document type	Journal Article
ISSN	1650-3414
ISSN	1650-3414
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Article ; Online: Károly Méhes (1936-2007).

Kosztolányi, György

American journal of medical genetics. Part A

2008 Volume 146A, Issue 5, Page(s) 541–542

MeSH term(s)	Genetics, Medical/history ; History, 20th Century ; Hungary
Language	English
Publishing date	2008-02-07
Publishing country	United States
Document type	Biography ; Historical Article ; Journal Article ; Portrait
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.31859
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Article ; Online: The medical geneticist as expert in the transgenerational and developmental aspects of diseases.

Kosztolányi, György / Cassiman, Jean-Jacques

European journal of human genetics : EJHG

2010 Volume 18, Issue 10, Page(s) 1075–1076

Abstract: The increased knowledge of genetics has raised new questions, and confusion has been growing about the evaluation of the results of recent research and the role of geneticists in the genomic medicine. If we focus on transgenerational and developmental ... ...

Abstract	The increased knowledge of genetics has raised new questions, and confusion has been growing about the evaluation of the results of recent research and the role of geneticists in the genomic medicine. If we focus on transgenerational and developmental aspects of diseases, the answers might be more evident.
MeSH term(s)	Genetic Counseling ; Genetic Diseases, Inborn ; Genetic Services ; Genetic Testing ; Genetics, Medical ; Genome-Wide Association Study ; Genomics ; Health Knowledge, Attitudes, Practice ; Humans ; Molecular Diagnostic Techniques ; Patient Care ; Physician's Role ; Physician-Patient Relations ; Practice Patterns, Physicians' ; Quality of Health Care ; Risk Assessment
Language	English
Publishing date	2010-06-30
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2010.100
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Article: RITKA IDEGRENDSZERI BETEGSÉGEK KEZELÉSÉRE SZOLGALÓ GYÓGYSZEREK TÁMOGATÁSA. ÁRVA GYÓGYSZEREK RITKA NEUROLÓGIAI KÓRKEPÉKBEN.

Szegedi Márta / Kosztolányi, György / Boncz, Imre / Molnár, Mária Judit

Ideggyogyaszati szemle

2015 Volume 69, Issue 1-2, Page(s) 37–45

Abstract: Objectives: Nervous system involvement is expected up to 60-70% in case of rare diseases. This article aims to present the financial methods and expenditures of rare neurological diseases' orphan medicinal products being financed in the frame of ... ...

Title translation	FINANCING OF MEDICINES FOR TREATMENT OF RARE DISEASES OF THE NERVOUS SYSTEM. ORPHAN DRUGS IN RARE NEUROLOGICAL DISEASES.
Abstract	Objectives: Nervous system involvement is expected up to 60-70% in case of rare diseases. This article aims to present the financial methods and expenditures of rare neurological diseases' orphan medicinal products being financed in the frame of Hungarian social insurance system in 2012. Methods: The subsidized orphan medicines were selected on the Orphanet portal 2012 while orphans financed by compessionate use were provided by the Hungarian National Insurance Fund Administration (OEP) database. Three products exist without orphan designation, however those are intended for the treatment of rare neurological ailments. The medicines were categorized by financial methods and determined by costs. Results: Numerically, out of 36 pieces of subsidized orphan or orphan criteria fulfilled medicines 17 were authorized for the treatments of rare neurological diseases in the year of 2012. Most of the drugs (14 pieces) were to be financed in the frame of compassionate use by the reimbursement system. The cost amount of social insurance for 387 rare neurological disease patients reached more than 4.5 billion HUF (1.4% of the total pharmaceutical budget in outpatient care). Conclusions: In Hungary half of the subsidized orphans are intended for the treatments of rare neurological ailments. 30% of the total amount of social insurance for rare diseases' medicinal treatments were used to subsidizing rare neurological disease patients in 2012. Most of the orphan medicines were to be financed in the frame of compassionate use by the reimbursement system for outpatient care. Consequently, a great deal of crucial problems occurred in relation with the unconventional subsidizing method. At the end of 2012 new financial methods have been elaborated and introduced in a pilot phase from 1 January 2013. In spite of the high cost commitment, nearly the entire diagnosed rare disease subpopulation has been provided with subsidized treatments in Hungary. In order to facilitate the access to orphan drugs, collaboration is needed between the financing agencies and the professional representatives for identifying the optimal form of financial subsidy.
MeSH term(s)	Ambulatory Care/economics ; Compassionate Use Trials ; Drug Costs ; Financing, Government ; Humans ; Hungary ; Insurance Coverage ; Insurance, Health ; Nervous System Diseases/drug therapy ; Nervous System Diseases/economics ; Orphan Drug Production/economics ; Rare Diseases/drug therapy
Language	Hungarian
Publishing date	2015-12-23
Publishing country	Hungary
Document type	English Abstract ; Journal Article
ZDB-ID	2240317-6
ISSN	0019-1442
ISSN	0019-1442
DOI	10.18071/isz.69.0037
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Article ; Online: Jumping translocation of 15q24-qter resulting in partial trisomy: a case report.

Czakó, Márta / Hadzsiev, Kinga / Melegh, Béla / Kosztolányi, György

Gene

2012 Volume 503, Issue 1, Page(s) 155–159

Abstract: We report on a jumping translocation with five different cell lines detected in four tissues in a 2-year-old patient. This rare type of chromosomal abnormality (not more than 30 cases published so far) proved to be a series of non-reciprocal ... ...

Abstract	We report on a jumping translocation with five different cell lines detected in four tissues in a 2-year-old patient. This rare type of chromosomal abnormality (not more than 30 cases published so far) proved to be a series of non-reciprocal translocations of the 15q24-qter donor chromosome segment to the telomeric region of chromosomes 5q, 10q, 16q and 19p, respectively. The process, in addition to a few cells without translocation, resulted in partial trisomy of 15q24-qter which was associated with somatic overdevelopment in the patient, with hemihypertrophy and minor anomalies. The phenotype of our patient was different from that of the other two patients found in the literature having the same donor chromosome segment involved in a similar rearrangement. Possibly, the difference in the phenotype lies in the various ratios of somatic mosaicism with five cell lines, in particular the presence of normal one which is extremely rare in patients with jumping translocation. Here we discuss the various ways on how the rearrangement could arise.
MeSH term(s)	Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 15/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Interspersed Repetitive Sequences ; Male ; Mosaicism ; Translocation, Genetic ; Trisomy/genetics
Language	English
Publishing date	2012-07-15
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2012.04.022
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