Charles University

http://www.cuni.cz

Charles University Prague (est. 1348; CUNI) is one of the largest employers in Prague (cca. 15 000 staff/students/faculty). Our Department (ublg.lf2.cuni.cz; UBLG) is operating within its 2nd Faculty of Medicine (www.lf2.cuni.cz) located on the premises of the University Hospital Motol (www.fnmotol.cz) serving as the CUNI Medical Centre by hosting its two medical schools. The Department was established in 1961, offers comprehensive research, diagnostics and care in the area of rare diseases and serves as a reference centre for their molecular genetic-/cytogenetic diagnosis in the Czech Rep. (10 mil. inhabitants). It also serves as the pre-graduate training centre for the 2nd Faculty of Medicine and post-graduate training of medical geneticists and genetic laboratory specialists (www.ipvz.cz). There are altogether 75 employees, of which 15 are students (pre-graduate/post-graduate). Annual turnover is cca. 2M€/year, comprising the National Cystic Fibrosis Centre, Oncogenetics, Reproductive genetics, Constitutional cytogenetics, Biology and Clinical genetics / Genetic counselling. Funding is assured from the health insurance (www.vzp.cz), including targeted research funding from ministries (www.mzcr.cz; www.msmt.cz). Since April 2012 this Department serves as the National Coordination Centre for Rare diseases based on the Bulleting 4/2012 of the Czech Ministry of Health and hosts the Czech Orphanet node (http://www.eucerd.eu/?post_type=document&p=1390; www.vzacnenemoci.cz, www.orphanet.cz).

UBLG is an academic and non-profit medical-genetics unit of the 2nd Faculty of Medicine, Charles University Prague. The structure of our Department corresponds to that in other major European and US genetic centers. Our major objectives are comprehensive prenatal and postnatal genetic services, both at cytogenetic and molecular genetic levels, including examination of hereditary tumors. In addition, there are specialized National Centers for the diagnosis of Cystic Fibrosis, Neurogenetic Disorders and for Reproductive Genetics. All laboratory services are complemented by specialized, genetic counseling. DBMG has broad domestic and international contacts / collaboration and focused domestic and international research projects.

Role in RD-Connect: Interaction with EU priority areas (Eastern Europe, Mediterranean) by workshops (eg. in collaboration with EGF–eurogene.org, ESHG.org or ESHRE.com), including newsletters and targeted presentations at conferences, to ensure broad dissemination of project tools. Members of this Department will be involved in WP2 regarding their involvement in Eur cystic fibrosis registry (www.ecfs.eu/projects/ecfs-patient-registry/intro). Finally, our experience with “e-Health” provision of information to cystic fibrosis patients (www.ecorn- cf.eu) we will be further explored for other RDs.