Aymé S. and Rodwell Ch. The European Union Committee of Experts on RareDiseases: Three Productive Years at the Service of the RareDisease Community. Orphanet Journal of RareDiseases 2014 9:30
Gliklich RE, Dreyer NA, et al. Registries for Evaluating Patient Outcomes: A User’s Guide. 2nd ed. (AHRQ, September 2010)).
Registries under NCHI. [online] Bratislava, National Centre of Health Information [last access verified 20/2/2013]. Accessible at: http
CONTRIBUTIONS. Sec. of Med. Sci., XXXVIII 1, 2017
ПРИЛОЗИ. Одд. за мед. науки, XXXVIII 1, 2017
The fifth SEE meeting on rarediseases (RDs) was held in Macedonian Academy of Sciences and Arts (MASA)
the November 11th, 2016. Several lectures dealt with mucopolysaccharidosis, glycogen storage diseases and the
possibilities for their diagnosis and treatment. Enzyme replacement treatment (ERT), its availability, effects (or
the lack of it) on the brain, and further prospects of eventual gene
Effective management of any group of diseases in the population, including rare diseases, needs to know the basic epidemiological parameters. The issue of rare diseases in the concept of state health policy has absented in many countries due to the difficulty of diagnosis, treatment and subsequent care of such patients. There is no conception of collection and processing of data regarding rare diseases, neither is there any unified conception of diagnosis, treatment, and overall health care of patients with rare diseases. The central availability of data concerning rare diseases is very low for different medical specialisations which deal with this issue. There exist only partial pieces of information, which are spread across different workplaces. The SR should participate in European information network on rare diseases. The SR is a member of ICBDSR (http://www.icbdsr.org) but not EUROCAT (http://www.eurocat-network.eu/), which is necessary to be changed!
The National Health Information Centre (NHIC) is a source of rare diseases in the following databases: National register of congenital anomalies, National cancer registry, Registry of patients with diabetes mellitus 1, National register of congenital anomaly of heart. The key to the knowledge of the real state of disease incidence rate in the population is an effective collaboration between relevant partners (including implementation of systematic control mechanisms), which is a basis for success.
References 1. Tasic V, Lozanovski VJ, Danilovski D, Laban N, Pop-Jordanova N, Polenakovic M, Gucev ZS. Rarediseases with renal involvement in the Republic of Macedonia. Prilozi. 2011; 32: 55-67. 2. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009; 106: 19096-101. 3. Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, et al. SRNS Study Group, Hildebrandt F. A single-gene cause in 29.5% of cases of steroid
References Official gazette of the Ministry of Health in the SR 2012/part 32. National Strategy for RareDisease Patient Health Care Development for years 2012 - 2013. (http://www.europlanproject.eu/_newsite_986987/Resources/docs/NATIONALPLANS_SL_nationalStrategySlovakiaEng.pdf). Accessed February 20 2013. Cisarik F. Rarediseases - challange for european healt care and situation in the SR In: i-med.sk , 2011, 1 (31.12.) [e-learningový portál]. Bratislava: Slovenská lekárska komora. ISSN: 1338-4392. (http://www.i-med.sk). Accessed February 20 2013.
References 1. Gliklich RE, Dreyer NA, Leavy MB. RareDisease Registries [Internet]. Agency for Healthcare Research and Quality (US); 2014 [cited 2018 Mar 26]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK208609/ 2. Michael A. Nead, David G. Morris. Interstitial and Inflammatory Lung Diseases. In: Fishman's Pumonary Disease and Disorders Authors Alfred P Fishman, Jack A Elias, Robert M Senior, Jay A Fishman, Allan I Pack, Michael A Grippi. 2008. p. 11057, 1112. 3. Raghu G, Nyberg F, Morgan G. The epidemiology of interstitial lung disease and its
References EURORDIS. The voice of 12,000 patients: Experiences and Expectations of RareDisease Patients on Diagnosis and Care in Europe : a report based on the EurordisCare3 surveys [online]. Eurordis, 2009 ISBN 29-530-3181-2. (www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf). Accessed April 20 2013. EURORDIS. EUROPLAN - Guidance for National Plans and Conferences: EUROPLAN National Conference Final Reports [online]. EURORDIS, 2010, 21/09/2012. (http://www.eurordis.org/content/europlan-guidance-national-plans-andconferences). Accessed
CONTRIBUTIONS. Sec. of Med. Sci., XXXVIII 3, 2017
ПРИЛОЗИ. Одд. за мед. науки, XXXVIII 3, 2017
The sixth SEE meeting on rarediseases (RDs) was held in MASA the November 10th, 2017. A block of
lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS,
hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic
mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth