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Editorial

Editorial Acta Fac. Pharm. Univ. Comen. LXI, 2014 (1) ISSN 1338-6786 (online) and ISSN 0301-2298 (print version) DOI 10.2478/afpuc-2014-0006 ACTA FACULTATIS PHARMACEUTICAE UNIVERSITATIS COMENIANAE MUDr. Mario Miklosi, PhD., PharmDr. Tatiana Foltánová PhD. 1 Ministry of Health, Section of Health, Bratislava, Slovak Republic Comenius University, Faculty of Pharmacy, Bratislava, Slovak Republic DEAR COLLEAGUES, DEAR READERS Rare disease day is an international activity to raise awareness about rare diseases and current situation which all stakeholders (policy makers, researchers, academics, industry, physicians, patients and their families as well as patients advocates ­ patient's organisations) face. For the first time, Rare Disease Day was launched in 2008 by the European Organisation for Rare Diseases (EURORDIS). In 2014 already 84 countries participate and together 410 events were organised across the globe. We are glad to say, that Slovak republic joined these activities already for the third time, drawing attention of professionals as well as public to this rare but interesting topic. Thus is my pleasure to introduce current issue of this journal, which already from the beginning of Rare disease day activities in Slovakia gives special attention to this topic. We bring news from the Slovak rare diseases environment. You can read about the work on the future National register for rare diseases. Its creation builds on the existing registries (National Registry of Patients with Congenital Anomalies, National Cancer Registry (including rare cancers), National Registry of Patients with Diabetes Mellitus, National Neurological Disorders Registry, National Chronic Lung Disease Registry) as well as on the structure of health care in the Slovak Republic. Thanks to the cooperation between National Centre of Health Information and the Slovak Society of Medical Genetics, separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man), ORPHANET rare disease coding (ORPHA codes of rare diseases) and the International classification of diseases code (ICD 10) were introduced at the beginning of the year 2014. You can find here, how they look like. In the summer 2012 the Ministry of Health launched a pilot study of the expanded newborn screening provided by means of tandem mass spectrometry. The results of the pilot justified this method as appropriate and thus in January 2013 it was launched as standard screening method to all newborns in Slovakia. About the one and half year of experience with this approach you can read in the paper of Dluholucky and colleagues. Hard work on the newborn screening together with the new separate reporting forms on rare diseases are a good signal of strategic work on rare diseases topic in Slovakia. These data could be used in the future for the estimate of the total number of rare disease patients in Slovakia. The more precise information about the number and diagnose of patients with rare diseases the easier is the planning of health and social care services for them. A particularity of Slovakia is high prevalence of alkaptonuria. Alkaptonuria is rare inherited genetic disorder of phenylalanine and tyrosine metabolism. Its incidence in Slovakia is surprisingly high. The treatment of these patients is centralised in the National Institute of Rheumatic Diseases. The experience with the diagnostics and care in Slovakia you can read in the paper of Rovensky and colleagues. Children's University Hospital in Bratislava is actively approaching small patients with rare diseases from whole Slovakia, thus working in line with the concept of future Centres of expertise. The way, they approach neurofibromatosis type 1, you can find in the paper from Bolcekova and colleagues. It is an excellent example of multidisciplinary approach at the national level. Cooperation between dermatologist, neurologist, oftalmologist, oncologist and paediatricians supported by the ORPHANET team is of big importance. Slovakia has a National oncologic program. The treatment of cancer is centralised in Oncologic institutes, providing high quality care. Rare cancers are profiting from this approach. About the Slovak experience with hairy cell leukaemia you can read in the paper of Greksak. These are the catchiest news in the field of rare diseases in Slovakia in the year 2014. We hope you enjoy the reading. * Mario.Miklosi@health.gov.sk © Acta Facultatis Pharmaceuticae Universitatis Comenianae http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Facultatis Pharmaceuticae Universitatis Comenianae de Gruyter

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de Gruyter
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1338-6786
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1338-6786
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10.2478/afpuc-2014-0006
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Abstract

Acta Fac. Pharm. Univ. Comen. LXI, 2014 (1) ISSN 1338-6786 (online) and ISSN 0301-2298 (print version) DOI 10.2478/afpuc-2014-0006 ACTA FACULTATIS PHARMACEUTICAE UNIVERSITATIS COMENIANAE MUDr. Mario Miklosi, PhD., PharmDr. Tatiana Foltánová PhD. 1 Ministry of Health, Section of Health, Bratislava, Slovak Republic Comenius University, Faculty of Pharmacy, Bratislava, Slovak Republic DEAR COLLEAGUES, DEAR READERS Rare disease day is an international activity to raise awareness about rare diseases and current situation which all stakeholders (policy makers, researchers, academics, industry, physicians, patients and their families as well as patients advocates ­ patient's organisations) face. For the first time, Rare Disease Day was launched in 2008 by the European Organisation for Rare Diseases (EURORDIS). In 2014 already 84 countries participate and together 410 events were organised across the globe. We are glad to say, that Slovak republic joined these activities already for the third time, drawing attention of professionals as well as public to this rare but interesting topic. Thus is my pleasure to introduce current issue of this journal, which already from the beginning of Rare disease day activities in Slovakia gives special attention to this topic. We bring news from the Slovak rare diseases environment. You can read about the work on the future National register for rare diseases. Its creation builds on the existing registries (National Registry of Patients with Congenital Anomalies, National Cancer Registry (including rare cancers), National Registry of Patients with Diabetes Mellitus, National Neurological Disorders Registry, National Chronic Lung Disease Registry) as well as on the structure of health care in the Slovak Republic. Thanks to the cooperation between National Centre of Health Information and the Slovak Society of Medical Genetics, separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man), ORPHANET rare disease coding (ORPHA codes of rare diseases) and the International classification of diseases code (ICD 10) were introduced at the beginning of the year 2014. You can find here, how they look like. In the summer 2012 the Ministry of Health launched a pilot study of the expanded newborn screening provided by means of tandem mass spectrometry. The results of the pilot justified this method as appropriate and thus in January 2013 it was launched as standard screening method to all newborns in Slovakia. About the one and half year of experience with this approach you can read in the paper of Dluholucky and colleagues. Hard work on the newborn screening together with the new separate reporting forms on rare diseases are a good signal of strategic work on rare diseases topic in Slovakia. These data could be used in the future for the estimate of the total number of rare disease patients in Slovakia. The more precise information about the number and diagnose of patients with rare diseases the easier is the planning of health and social care services for them. A particularity of Slovakia is high prevalence of alkaptonuria. Alkaptonuria is rare inherited genetic disorder of phenylalanine and tyrosine metabolism. Its incidence in Slovakia is surprisingly high. The treatment of these patients is centralised in the National Institute of Rheumatic Diseases. The experience with the diagnostics and care in Slovakia you can read in the paper of Rovensky and colleagues. Children's University Hospital in Bratislava is actively approaching small patients with rare diseases from whole Slovakia, thus working in line with the concept of future Centres of expertise. The way, they approach neurofibromatosis type 1, you can find in the paper from Bolcekova and colleagues. It is an excellent example of multidisciplinary approach at the national level. Cooperation between dermatologist, neurologist, oftalmologist, oncologist and paediatricians supported by the ORPHANET team is of big importance. Slovakia has a National oncologic program. The treatment of cancer is centralised in Oncologic institutes, providing high quality care. Rare cancers are profiting from this approach. About the Slovak experience with hairy cell leukaemia you can read in the paper of Greksak. These are the catchiest news in the field of rare diseases in Slovakia in the year 2014. We hope you enjoy the reading. * Mario.Miklosi@health.gov.sk © Acta Facultatis Pharmaceuticae Universitatis Comenianae

Journal

Acta Facultatis Pharmaceuticae Universitatis Comenianaede Gruyter

Published: Aug 30, 2014

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