The RSU Institute of Oncology and Molecular Genetics, together with the Latvian Society of Human Genetics and the Children’s Clinical University Hospital, is organising a two-day seminar on the application of multiomics in clinical diagnostics.
Among the invited speakers will be Prof. Tjitske Kleefstra from the Erasmus University Medical Center (Netherlands), who first identified and described Kleefstra syndrome. Presentations on the application of different sequencing technologies (short- and long-read sequencing, DNA and RNA sequencing) will be given by Dmitrijs Rots, F. Ferraro, Līvija Bārdiņa, Egija Berga Švītiņa, and other experts.
Working language: English
Agenda
| New perspectives on novel and known syndromes Ēbels Lecture Theatre, Children's Clinical University Hospital, 45 Vienības gatve, Rīga | |
|---|---|
| 13:00–13:45 | Neuropsychiatric disorders in clinical genetics accross ages Prof. T. Kleefstra |
| 13:45–14:00 | Coffee break |
| 14:00–14:45 | Kleefstra syndrome: from discovery to therapy and guidelines Prof. T. Kleefstra |
| 14:45–15:00 | Coffee break |
| 15:00–15:30 | DDX3X-related disorder in males and females Prof. T. Kleefstra |
| 15:30–15:45 | Clinical geneticists perspectives of future in genetics: where we will be in 10 years and how to make it happen Prof. T. Kleefstra |
| 15:45–16:00 | Neurologist perspectives of future in genetics: where we will be in 10 years and how to make it happen Assoc. Prof. V. Ķēniņa & Dr. K. Lazdovska |
| 16:00–16:15 | Pediatrician perspectives of future in genetics: where we will be in 10 years and how to make it happen Assoc. Prof. M. Auzenbaha |
| 16:15–17:00 | Discussion on future in genetics Prof. T. Kleefstra, Assoc. Prof. V. Ķēniņa, Assoc. Prof. M. Auzenbaha, Dr. G. Tauriņa, Dr. I. Mičule |
| Omics applications in clinical testing RSU Anatomy Museum, 9 Kronvalda bulvāris, Rīga | |
|---|---|
| 9:00–9:15 | Long read sequencing: novel opportunities in clinics and research L. Bārdiņa & D. Rots |
| 9:15–9:45 | Long read validation for clinical settings L. Bārdiņa & D. Rots |
| 9:45–10:10 | Repeat expansion disorder detection using long reads: validation and testing in unsolved patients L. Bārdiņa |
| 10:10–10:30 | Coffee break |
| 10:30–11:30 | RNA-seq in germline diagnostics: short and long reads F. Ferraro |
| 11:30–12:00 | RNA-seq in tumour diagnostics E. Berga-Švītiņa |
| 12:00–12:15 | Complex case presentation solved using multiple technologies G. Tauriņa |
| 12:15–13:00 | Lunch break |
| 13:00–13:45 | DNA methylation signatures testing using arrays & long reads F. Ferraro |
| 13:45–14:15 | Biallelic CENPT variants as a cause of multisystemic anomaly syndrome D. Rots |
| 14:15–14:30 | Complex case presentation solved using multiple technologies M. Rozevska |
| 14:30–15:00 | PacBio presentation about Hi-Fi long read sequencing S. Al-Walai |
| 15:00–17:00 | Informal networking |
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