Tuesday May 28th

09:00 - 9:30
Registration and coffee
Hall

9:30 - 12:00
SESSION 1
Sune Bergström Aula

9:30
Welcome words

Jenni Nordborg, Life Science Office, Sweden


9:50
100,000 Genome Project – Transforming Healthcare

Mark Caulfield, Genomics England


10:30-11:00
Coffee break

11:00
Genomic Medicine Sweden – building a national infrastructure

Richard Rosenquist Brandell, Karolinska Institutet, Sweden


11:30
Deployment of Genetic Data Management System in Cloud Platform

Mikko Rotonen, IT-Development Director, Helsinki University Hospital, Finland


12.00-13.00
Lunch
Hall

13.00-15.10
Session 2: Track 1 - Rare diseases
Torsten N Wiesel J3:04

13:00
NGS innovations to uncover new genes for intellectual disability: from research to diagnostics and back

Lisenka Vissers, Dept of Human Genetics, Radboud UMC, Nijmegen, The Netherlands


13:50
Clinical Implementation of Genomics for Rare Disease

Marc LePage, Genome Canada, Canada


14:15
Whole genome characterization of germline chromosomal rearrangements reveals underlying disease mechanisms

Anna Lindstrand, Karolinska Institutet, Sweden


14:40
Long read sequencing for clinical applications

Lars Feuk, Department of Immunology, Genetics and Pathology, Uppsala University, Sweden


13:00 - 15:10
Session 2: Track 2 - Cancer
Sune Bergström Aula

13:00
Feasibility and impact of whole genome and whole transcriptome sequencing in the diagnostic work-up of hematological neoplams

Claudia Haferlach, Munich Leukemia Laboratory, Munich, Germany


13:40
Integrative sequencing and target identification in acute leukemia

Thoas Fioretos, Lund University, Sweden


14:05
Molecular Pathology 3.0: complex biomarkers enter clinical stage

Albrecht Stenzinger, Institute of Pathology, University Hospital Heidelberg, Germany


14:45
Genomic tools for diagnosis and immune characterization of cancer of unknown primary and rare cancers

Jonas Nilsson, Gothenburg University, Sweden


13:00-15:10
Session 2: Track 3 - Infectious diseases
Ulf von Euler J3:06

13:00
Clinical Metagenomics and bioinformatics pipelines

Natacha Couto, Department of Medical Microbiology and Infection Prevention, University Medical Center Groningen, University of Groningen, Netherlands


13:40
Neisseria gonorrhoeae - Rapid antibiotic resistance predictions using Nanopore technology

Magnus Unemo, Department of Laboratory Medicine, Microbiology, Örebro University Hospital, Sweden


14:10
NGS in clinical microbial diagnostics

Hedvig Engström Jakobsson, Clinical Microbiology, Sahlgrenska University Hospital, Gothenburg, Sweden


14:40
Shotgun metagenomics of the human microbiome

Fredrik Boulund, Center for Translational Microbiome Research, Department of Molecular, Tumour and Cell Biology, Karolinska Institutet, Sweden


15:10-15:40
Coffee break
Hall

15:40-16:20
Session 3
Sune Bergström Aula

15:40-16:20
Innovation and Collaboration

Moderator: Frida Lundmark, Vinnova

 

1928, Fanny Boije af Gennäs Erre, Gothenburg

SAGA Diagnostics, Lao Saal, Lund

Moleculink, Mathias Howell, Uppsala

CartaNA, Malte Kuhnemund, Stockholm

Genagon Therapeutics, Simon Fredriksson, Stockholm


16:20
Rare Diseases Sweden – challenges and opportunities for the rare disease field

Beata Ferencz, Rare Diseases Sweden


16:40
Patient-customized Oligonucleotide Therapy for an Ultra-Rare Genetic Disease

Timothy Yu, Division of Genetics & Genomics, Boston Children’s Hospital and Department of Pediatrics, Harvard Medical Medical School, USA


17:10
Closing words

Mats Ulfendahl, Director Research Region Östergötland and Hannie Lundgren, Director Research & Development Region Skåne


17:20-19:00
Mingle