GENETICS IN NEONATOLOGY

INTERNATIONAL SYMPOSIUM

6-7th November 2025

Radisson Blu Plaza Hotel | Ljubljana | Slovenia

We are excited to invite you to an international symposium on Genetics in Neonatology, where the primary objective is to promote the active exchange of up-to-date knowledge, clinical experiences, and research findings related to the genetic diagnostic and therapeutic management of neonates with genetically determined disorders.

Special emphasis will be placed on recent advances in diagnostic technologies, early intervention strategies and multidisciplinary approaches that improve clinical outcomes for affected newborns.

This symposium is intended for a broad range of healthcare professionals, including paediatricians at the primary, secondary and tertiary levels, as well as clinical geneticists, neonatologists, nutritionists and other specialists involved in neonatal care.

The keynote speaker is going to be professor Asbjørg Stray-Pedersen from Norway, one of the leading experts in neonatal genetic medicine. This symposium offers a valuable opportunity for knowledge exchange, professional networking, and the advancement of clinical practices through evidence-based updates in the field of neonatal genetics.

OFFICIAL LANGUAGES: English and Slovenian

ORGANIZERS:

Department of Neonatology, Division of Paediatrics, University Medical Centre Ljubljana; Faculty of Medicine, University of Ljubljana; Društvo za pomoč bolnim novorojenčkom – Prvi koraki

ORGANIZING COMMITTE:

Aneta Soltirovska Šalamon, Jana Lozar Krivec, Gregor Nosan, Darja Paro Panjan, Manca Velkavrh, Sandra Cerar, Mojca Kavčič, Nika Eržen, Alja Kavčič and Mojca Železnik.

REGISTRATION FEE

200,00 € (without VAT); 75,00 € (without VAT) for residents. The fee includes admission to all sessions, symposium materials, coffee & snacks during breaks.

Payment to: Univerzitetni klinični center Ljubljana, Zaloška cesta 2, Ljubljana, Slovenija
SWIFT: LJBASI2X
IBAN: SI56 0110 0603 0277 894
Reference: 00 2993038-441-3999

Please ensure that “Genetics in Neonatology” and the full name of the participant are clearly stated as the payment purpose.

Retired doctors and medical students have free entry.

REGISTRATION

PROGRAMME

Thursday, November 6th 2025

9:00 Registration of participants

10:00 Introductory Remarks – Soltirovska Šalamon A

10:10 Welcome Address Speech

10:20 Understanding the Basics of Genetics: Definition, Structure, Gene Expression – Debeljak M

10:45 Methods and Technologies in Genetic Diagnostics – Kovač J

11:10 Building a Genomic Screening Target Gene Panel – Stray-Pedersen A

11:35 Genetic Treatments: Current Approaches and Future Directions – Osredkar D

12:00 Coffee Break

12:30 Genetic Diagnostic Approaches to Foetal Developmental Abnormalities – Rudolf G, Druškovič M

12:55 Rapid Genetic Testing of Severely Ill Neonates – Stray-Pedersen A

13:20 Applications of Genetic Testing in the NICU – Fister P, Bertok S

13:45 Comprehensive Management of a Child with Rare Genetic Disorder – Bertok S, Stavber L

14:10 Lunch Break 

15:00 From Symptoms to Sequence: A Diagnostic Journey in Hypophosphatasia – Železnik M

15:20 Ethical Considerations in Genomics and Newborn Screening – Grošelj U 

15:45 Second Expansion of the Neonatal screening Programme in Slovenia and the Role of Genetic Diagnostics – Drole A, Tanjšek Žerjav M, Repič Lampret B

16:10 Genetic Approach to a Dysmorphic Newborn – Writzl K

16:35 Genetic Basis of Respiratory Diseases in the Neonatal Period – Krivec U, Perme T

17:00 Congenital Heart Defects with Known Genetic Aetiologies – Nosan G, Mlakar G

17:25 Concluding Remarks

Friday, November 7th 2025

09:00 Exploring the Genetic Basis of Neonatal Epileptic Encephalopathies – Soltirovska Šalamon A

09:25 Genetic Haematological Disorders Presenting in the Neonatal Period – Lozar Krivec J, Ivančan S

09:50 Genetic Background of Hyperbilirubinemia and Liver Disease in Newborns – Velkavrh M, Brecelj J

10:15 Immunodeficiencies in the Neonatal Period: From Clinical Presentation to Genetic Background and Screening – Nosan G, Markelj G

10:40 Coffee Break

11:10 Genetic Background of Bone Diseases in Newborns – Cerar S

11:35 Genetic Background of Diseases of Urinary Tract in Newborns – Nika E, Levart T

12:00 Genetic Background of Hypoglycaemia in Newborns – Kavčič M, Grošelj U

12:25 Family-centred Psychological Approaches in the Management of Rare Paediatric Diseases – Zupančič S

12:50 Concluding Remarks