First person – Eileen Lynch

doi:10.1242/dmm.041640

Abstract

ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers. Eileen Lynch is first author on ‘C9ORF72-related cellular pathology in skeletal myocytes derived from ALS-patient induced pluripotent stem cells’, published in DMM. Eileen is a graduate research assistant/PhD candidate in the lab of Masatoshi Suzuki at University of Wisconsin-Madison, WI, USA, investigating in vitro disease modeling of neuromuscular diseases.

Highlights

What are the potential implications of these results for your field of research? Our results support the hypothesis that ALS-patient-derived skeletal muscle cells experience pathological changes independent of motor neuron influence
Some of our steps include comparing our induced pluripotent stem cells (iPSCs)-derived skeletal muscle pathology to actual patient muscle samples to determine at what stage in the disease process these changes are occurring
What are the main advantages and drawbacks of the model system you have used as it relates to the disease you are investigating? iPSCs are a great resource for in vitro disease modeling because they can be generated from accessible adult cell types such as skin fibroblasts or blood cells

Summary

Introduction

Our results support the hypothesis that ALS-patient-derived skeletal muscle cells experience pathological changes independent of motor neuron influence. Some of our steps include comparing our iPSC-derived skeletal muscle pathology to actual patient muscle samples to determine at what stage in the disease process these changes are occurring. If skeletal muscle experiences pathological changes earlier than expected in the ALS disease progression it could lead to novel biomarkers or therapeutic targets.

Results

Conclusion