First person – Karen Lange

doi:10.1242/dmm.048553

Abstract

ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Karen Lange is first author on ‘Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans’, published in DMM. Karen is a postdoc in the lab of Oliver Blacque at University College Dublin, Dublin, Ireland, using genome-editing techniques in worms to investigate ciliopathies, rare genetic disorders caused by defects in cilia.

Highlights

First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers
Karen is a postdoc in the lab of Oliver Blacque at University College Dublin, Dublin, Ireland, using genome-editing techniques in worms to investigate ciliopathies, rare genetic disorders caused by defects in cilia
How would you explain the main findings of your paper to non-scientific family and friends? I used CRISPR to genetically modify small worms to have a specific genetic variation that was originally identified in a patient with Joubert syndrome

Summary

Introduction

What are the potential implications of these results for your field of research? This study acts as a proof of principle that CRISPR in C. elegans can be used to generate and characterize ciliopathy-associated missense variants. First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Karen Lange is first author on ‘Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans’, published in DMM. Karen is a postdoc in the lab of Oliver Blacque at University College Dublin, Dublin, Ireland, using genome-editing techniques in worms to investigate ciliopathies, rare genetic disorders caused by defects in cilia.

Results

Conclusion