Slovenia
Rare Diseases Slovenia
email: redke.bolezni@kclj.si
Phone: +386 080 88 45
Society of people suffering from blood diseases
(Društvo bolnikov s krvnimi boleznimi)
Address: Slovenska cesta 30, 1234 Mengeš, Slovenija
email: info@drustvo-bkb.si
tel: +386 41 649 735 Mihaela Uhan, president
Debra Slovenia–
Address: Motnica 3, 1236 Trzin, Slovenia
email: info@debra-slovenia.si
Phone: +386 31 348303
President: Polona Zakošek
EAMDA – European Alliance of Neuromuscular Disorders Associations
Address: Linhartova cesta 1, Ljubljana
E-mail: info@eamda.eu
Phone: +386 1 47 20 556
Viljem Julijan – Society for helping children with rare diseases
Address: Ulica Skladateljev Ipavcev 11, 3230 Šentjur
email: drustvo@viljem-julijan.si
Bernardi Ventrella Institute for rare neurological and neurometabolic diseases
Address: Soska cesta3, 5250 Solkan
email: info@zavodbv.org
phone: +386 69 913479
Association of patients with Fabry’s disease of Slovenia
Address:Dobja vas 153, 2390 Ravne na Koroškem
email: drustvo.fabry@gmail.com
President: Marija Pintarič
Huntington’s Disease Society
Vrhovčeva cesta 13, 1358 Log pri Brezovici
Phone: +386 40 397289
President: Rudolf Jekovec
Email: ako9@siol.com
Association of patients with brittle bones, osteogenesis imperfecta of Slovenia
Address: Limbuška cesta 33, Limbuš
Society of patients with Prader Willi syndrome
President: Tina Vovk
tinka.vovk@gmail.com
Association of patients with Gaucher disease of Slovenia
Address: Srednja Kanomlja 66,5281 Spodnja Idrija
email: info@gaucher-drustvo.si
www.gaucher-drustvo.si
President: dr. Irena Žnidar
Society of dystrophies of Slovenia
Address: Linhartova 1,1000 Ljubljana
email: info@drustvo-distrofikov.si
www.drustvo-distrofikov.si
Presidemt: Mateja Toman
Society of hemophiliacs of Slovenia
Tavčarjeva 2
1000 Ljubljana
hemofilija@siol.net
www.drustvo-hemofilikov.si
President: prof. Jože Faganel
Heroes Society 3rd Floor
(Association of parents of children treated at the hemato-oncology department)
Address: Tržaška cesta 2, 1000 Ljubljana
email: drustvo@junaki3nadstropja.si
junaki3nadstropja.si
www.facebook.com/junaki3.nadstropja
Cystic Fibrosis Society of Slovenia (CF Society)
Address: Troštova ulica 5, 1292 Ig
email: info@drustvocf.si
www.drustvocf.si
President: Slavka Grmek Ugovšek
Society for Phenylketonuria of Slovenia
Address: Rifnik 12b, 3230 Šentjur
Phone: +386 41 732 747
email: info@pku.si
www.pku.si
President: Milan Gregorčič
Society for Pulmonary Hypertension of Slovenia
Address: Slovenska cesta 29, 1000 Ljubljana
email: dbph.slovenije@gmail.com
www.pljucna-hipertenzija.si
President: Tadeja Ravnik
DMD Slovenia – Duchenne Muscular Dystrophy Slovenia
Address: Triglavska ulica 2, 2204 Miklavž na Dravskem polju
Tel: +386 40 852 850
email: info@dmd-slovenija.si
www.dmd-slovenija.si
SATB2 European Foundation, SATB2 Syndrome Institution
Address: Šentjošt nad Horjulom 54 A, 1354 Horjul
email: erika.stariha@satb2europe.org
www.satb2europe.org
President: Erika Stariha
An initiative to support parents and children diagnosed with DiGeorge syndrome
Phone: +386 31 341 675 (zavod)
email: ZAVODQ22@GMAIL.COM
An initiative to support parents and children diagnosed with ANGELMAN SYNDROME
Phone: +386 51-391-030 (g. Peter Fojkar)
email: peter.fojkar@gmail.com
An initiative to support parents and children diagnosed with Beckwith-Wiedemann syndrome
Phone: +386 40 600 484 (g. Primož)
email: primoz.bevk@gmail.com
An initiative to support parents and children diagnosed with CHARGE syndrome
Email: chargecharge.si@gmail.com (ga. Lana)
www.facebook.com/groups/510670169296200/
An initiative to support parents and children diagnosed with craniosynostosis
(emerging society)
Phone: +386 31 531 240 (ga. Nataša), +386 31 682 534 (g. Primož)
email: natasa.verckovnik@gmail.com
email: primoz.levovnik@gmail.com
An initiative to support parents and children with the diagnosis of rare chromosomal changes
Phone: +386 31 560 184 (ga. Tita Stanek Zidarič)
email: tita@zidaric.net
An initiative to support parents and children diagnosed with Williams syndrome
email: natpetra@gmail.com, Natassa Petra-Barat
An initiative to connect patients with fibrous dysplasia of bone
Email: jana.lorbek@gmail.com Jana Puhar
An initiative to connect children with 1p36 deletion syndrome and their parents
Phone: +386 40 477 512 (ga. Mariza Kragelj Komac)
Email: marizarobi@gmail.com
Initiative for connecting children with early epileptic encephalopathies and their parents
The initiative will connect patients with early epileptic encephalopathies (diseases resulting from pathogenic variants in genes such as EEF1A2, KCNT1, ST3GAL3, GNAO1, SZT2, TBC1D24, PLCB1, SCN1A, STXBP1, SCN8A, SCN2A, CDKL5, GABRB3, ALG13, CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR, NEDD4L, ALDH7A1, SLC46A1, FOLR1, MTHFR, MTHFS and others).
Phone: +386 31 248 032 (g. Lidija Cokan)
email: lidija.cokan@gmail.com
Initiative for cooperation in support of patients with tuberous sclerosis
email: sara@kon-pas.org, Sara Idzig
Society of Disabled Kengurujček
(For children with short bowel syndrome and others with congenital gastrointestinal malformations)
Address: Trnovec 25a,1215 Medvode
www.kengurujcek.si
President: Danica Kopač Maletič
Marfan syndrome – awareness
Email: marfansindrom@gmail.com
www.facebook.com/MarfanSyndromSlovenia/
Children’s section at the Transplant Society of Slovenia
Address: Ljubljanska cesta 45,1241 Kamnik
Leader: Nataša Jerenec
Help for patients with pheochromocytomas and paragangliomas
www.para-zebra.si
email: alenka.hlep@gmail.com
Contact person: ga. Alenka Hlep
Section for autoimmune hepatitis at the Society for Chronic Inflammatory Bowel Disease
Address: Ljubljanska ulica 5, 2000 Maribor
Leader: Zdenka Steblovnik Župan
Slovenian association of patients with lymphoma and leukemia, L&L
Address: Povšetova 37, 1000 Ljubljana
Phone: +386 40 240950
email: limfom.levkemija@gmail.com
www.limfom-levkemija.org
President: Kristina Modic
Association of patients with myasthenia gravis and congenital myasthenic syndrome
Address: Vrečarjeva 47, 1291 Škofljica
GSM: +386 31 754 649
Phone: +386 51 263 510
email: info@miastenija-cms.si
miastenija-cms.si
Predsednica: Saša Ciber
