From the 15th to the 17th of August 2024, the 8th Annual Scientific-Practical Conference Dysmorphology Summer 2024 took place in Palanga, Lithuania. This gathering brought together clinical and medical geneticists, as well as neonatologists, from Lithuania, Latvia, Estonia, and Poland, along with guest speakers from the Netherlands and Belgium, who provided free consultations to patients with unclear diagnoses. The event offered a platform for experts to exchange insights, tackle clinical challenges, and explore the latest developments in dysmorphology alongside their international colleagues.
The conference was opened by Aušra Matulevičienė, an Associate Professor at the Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University. Emilia K. Bijlsma, an Associate Professor of Clinical Genetics (Leiden University), presented a study on monitoring genetic diagnoses in older patients, the challenges and benefits of conducting such studies, and the importance of identifying genetic abnormalities across generations. Aleš Maver, Associate Professor and the head of the Center for Mendelian Genomics at the Clinical Institute of Genomic Medicine in Ljubljana (Slovenia), discussed how Next-Generation Sequencing (NGS) has transformed the diagnosis and outcomes of rare diseases in Slovenia over the past decade. Sander Pajusalu, Associate Professor and the head of the newly established Center for Genetics and Personalized Medicine at Tartu University Hospital, concluded the first session with an overview of the unique genetic spectrum of the Baltic region and hereditary diseases.
During the afternoon session, Piotr Iwanowski, Ph. D, from the Center for Rare Diseases at the Children's Memorial Health Institute in Warsaw, gave a talk on the integration of various data sources in dysmorphology. Professor Algirdas Utkus, the head of the Department of Human and Medical Genetics at the Faculty of Medicine at Vilnius University, delivered a presentation on the genetic basis of oral health, examining how genetic variations can influence the risk of caries and the potential of genomic biomarkers in personalized dental care. Ph.D. student Evelina Marija Vaitėnienė from the Department of Human and Medical Genetics at the Faculty of Medicine at Vilnius University concluded this session by presenting a case of a complex chromosomal anomaly causing dysmorphic features and intellectual disability.
Photo by prof. Eglė Preikšaitienė.
On the second and third days of the conference, dynamic sessions were held with presentations by various experts, including invited speaker Professor Jeroen Breckpot (University Hospital Leuven, Belgium), representatives from Vilnius University – clinical geneticist Aušra Morkūnienė (VUH Santaros Clinics), Violeta Mikštienė, Ph. D. (Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University), clinical geneticist Deimantė Braždžiūnaitė (VUH Santaros Clinics), sixth-year medical student Michael Sabsovich (Faculty of Medicine, Vilnius University), clinical geneticist Rugilė Stankevičiūtė (VUH Santaros Clinics), and other conference participants.
Associate Professor Aušra Matulevičienė concluded the conference with a thank-you speech, highlighting the invaluable contributions of all participants and members of the organizing committee – clinical geneticists Beata Aleksiūnienė, Evelina Dagytė, and Natalija Krasovskaja from VUH Santaros Clinics. The conference was deemed extraordinarily successful, and the team expressed eagerness for next year's 35th European Dysmorphology Conference EuroDysmorpho in Vilnius.
--
Assoc. Prof. Emilia K. Bijlsma – A clinical geneticist at the Department of Clinical Genetics at Leiden University Medical Center. She has been working in the field of genetics since 1989 and has completed internships in Amsterdam (Netherlands) and Manchester (United Kingdom). Her main scientific interests include oncogenetics, the treatment of patients with intellectual disabilities, prenatal issues, and Huntington's disease.
Prof. Jeroen Breckpot – A professor at the Catholic University of Leuven. He has been working as a clinical geneticist since 2014. His primary scientific interests are cardiogenetics, syndromology, and epigenetics. His current research program at the Department of Human Genetics at the Catholic University of Leuven focuses on investigating the genetic and epigenetic causes of syndromic and non-syndromic congenital heart defects and applying these research findings to daily clinical practice.
Assoc. Prof. Aleš Maver – The head of the Mendel Center for Genomics at the Institute of Clinical Genomic Medicine in Ljubljana, Slovenia. The center's activities include providing widely accessible and modern diagnostics using next-generation sequencing methods for patients with rare diseases. Assoc. Prof. Aleš Maver is actively involved in developing bioinformatics algorithms and solutions to help physicians and laboratory scientists more accurately define pathogenic and genetic population variability in Slovenia.