Published: 20-10-2021 13:40 | Updated: 20-10-2021 13:42

New thesis on Bioinformatic Methods in Rare Disease Genomics

DNA sequencing results
Results from DNA sequensing, photo: Getty Images

Måns Magnusson at the research group Inborn Errors of Endocrinology and Metabolism, Deptartment of Molecular Medicine and Surgery will defend his thesis "Bioinformatic methods in rare disease" on October 22, 2021. Main Supervisor is Professor Anna Wedell.

Måns Magnusson, PhD Student MMK
Måns Magnusson

What´s the main focus of your thesis?

How whole genome sequencing (WGS) has impacted healthcare in the Stockholm region and what is needed to implement this.

Which are the most important results?

That we, by using WGS, have been able to diagnose thousands of patients with rare genetic disorders.

How can this new knowledge contribute to the improvement of people’s health?

In the long run we will be able to quicker and better diagnose patients with rare diseases and hopefully be able to create more treatments for this group of patients.

What are your future ambitions?

That the whole society understands the potential in the the new tehnology that is available today and that it becomes available to more people. Especially in the field of cancer.


Friday October 22nd, 2021 at 10:00, venue: Eva & Georg Klein, Biomedicum, or digitally via Zoom.


Bioinformatic methods in rare disease genomics