Course overview:
Our 18th conference on rare disease will combine recent research on genetic mechanisms involved in disease, with advances in approaches for clinical care.
This year’s conference will include discussion on the use of a ‘pangenome’ to improve diagnostic yield, the role of common variants in rare disease, and new developments in prenatal and neonatal genomic screening.
The programme will include podium presentations selected from abstracts submitted on the broad themes of the conference. Posters and poster-pitch talks will provide opportunities to present research findings or get feedback on ongoing projects.
This highly-interactive meeting fosters knowledge exchange among clinicians, clinical scientists, researchers and bioinformaticians working on rare diseases. There will be plenty of opportunities to establish collaborations through face-to-face networking with inclusive meals, and optional on-site accommodation.