CRISPR activation to study splice-altering variants

Thorkild Terkelsen is a resident medical doctor and postdoctoral research fellow in clinical genetics at Aarhus University Hospital and the Aarhus University Department of Biomedicine in Denmark. He obtained his undergraduate medical training from Aarhus University and the University of Sydney and will defend his PhD from Aarhus University in February 2024. Under the supervision of professor Uffe Birk Jensen, he has applied genome perturbation experiments such as CRISPR activation to study the effects of non-coding variants in easily accessible cells from individuals with rare diseases.

Uffe Birk Jensen is Clinical Professor and Chair at Department of Clinical Genetics, Aarhus University Hospital. He obtained his medical degree and PhD degree from Health Faculty at Aarhus University, Denmark. As a post doc he trained with Professor Fiona M. Watt at Cancer Research UK and studied the location of stem cells in a three-dimensional model of the human and mouse epidermis. He specialized in clinical genetics and became Clinical Professor in 2012. He works on rare disorders and how genetic variants outside the coding region of the genome causes disease.