CRISPR activation to study splice-altering variants

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Thorkild Terkelsen, MD, will discuss the diagnostic application of CRISPR activation to study the functional effect of splice-altering variants in easily accessible cells from individuals.

Overview of Presentation:

  • Splice-altering variants are a frequent cause of hereditary disorders, but their impact is difficult to predict.  
  • RNA diagnostics of clinical samples can contribute to the classification of splice-altering variants. 
  • One in five human disease genes are not expressed in easily accessible cells and cannot be analyzed in this way.  
  • Using CRISPR activation to induce expression of the gene of interest in skin fibroblasts, we show proof of principle of a diagnostic tool to study such variants.  
  • CRISPR activation is rapid and easy to perform. 


Thorkild Terkelsen, MD

Postdoc and Resident in Clinical Genetics

Aarhus University Hospital

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, MD, PhD

Clinical Professor and Chair, Department of Clinical Genetics

Aarhus University Hospital

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. 

Alyson Barnes, PhD (Moderator)

Assistant Editor

American Journal of Human Genetics


February Journal Club
02/14/2024 at 12:00 PM (EST)  |  Recorded On: 02/14/2024  |   Closed captions available
02/14/2024 at 12:00 PM (EST)  |  Recorded On: 02/14/2024  |   Closed captions available