New work package lead for inherited diseases at Clinical Genomics Uppsala

Joakim Klar holds a PhD in Medical Genetics (2005) and has a strong research background in rare diseases and next‑generation sequencing from Uppsala University.

Since joining the Clinical Genetics section and Clinical Genomics Uppsala (CGU) as a clinical laboratory geneticist in 2021, Joakim has been deeply involved in several development projects, with a particular focus on translating advanced genomic methods into clinical practice. His work has included the clinical implementation of copy number analysis using exome sequencing, as well as the successful introduction of clinical whole‑genome sequencing in 2023.

Joakim is now taking on the role of work package leader, following the retirement of Marie Louise Bondeson, and is leading the next step in clinical genomics at CGU.

“I am really excited to take over the work package leader role and to bring long‑read sequencing for improved diagnostics of inherited diseases into routine clinical use this year”, says Joakim.