On September 19, another Regional Training for Associations was held at the Zonar Hotel in Zagreb. This training was intended for association leaders from the Balkan region who provide support to individuals affected by rare diseases and their families. The previous training took place in 2016 in Kaštel Kambelovac. Thirty participants attended the session.

Amyloidosis is a chronic systemic disease caused by the accumulation of abnormally folded proteins. To date, more than 30 proteins capable of forming amyloid deposits have been described, including proteins essential for normal body function as well as those found only in pathological conditions. (1) In transthyretin amyloidosis, the tetramer…

Presentation of the Resource Center’s Services – specialized services we continuously provide to the citizens of Zagreb, and as an umbrella organization, also to 250,000 patients across Croatia. The Role of the Social Worker in the Rare Disease Resource Center

Students of the University of Zagreb School of Medicine who volunteer with the Croatian Alliance for Rare Diseases have contributed to our work for many years and help ensure continuity in service provision. Through their motivation for the field of rare diseases and their daily engagement on the helpline, as well as with new ideas, they have contributed to raising…

Mjesec kolovoz je mjesec svjesnosti o spinalnoj mišićnoj atrofiji. Proširimo svijest i podržimo oboljele od SMA. Spinalna mišićna atrofija je genetski poremećaj koji utječe na živote mnogih pojedinaca i njihovih obitelji, ali bitno je razumjeti da danas postoji rana dijagnostika i dostupne su nove terapije…

Dravetov sindrom, poznat i kao teška mioklona epilepsija dječje dobi, što dolazi od engl. Severe myoclonic epilepsy of infancy (SMEI), rijetki je i teški oblik epilepsije koji počinje u prvoj godini života I nažalost pogađa najvulnerabilniju skupinu pacijenata, djecu. Karakteriziraju ga produljeni i česti napadaji,…

Poštovani članovi skupštine, pozivamo vas na redovnu skupštinu Hrvatskog saveza za rijetke bolesti koja će se održati 14. lipnja u 17:00 sati putem Zoom platforme. Molimo vas da potvrdite svoj dolazak i javite ime delegata na Skupštini do 7. lipnja na rijetke.bolesti@gmail.com kako bismo Vam mogli poslati link…

Hereditarni ili nasljedni angioedem (HAE) je rijetki genetski poremećaj koji je karakteriziran ponavljajućim epizodama teškog oticanja (edema) u različitim dijelovima tijela, uključujući ruke, noge, lice, crijevnu stijenku i dišne putove. Kožni i abdominalni napadaji su najčešći oblici HAE. Ovo stanje uzrokovano je nedostatkom ili disfunkcijom…