First person – Meagan S. Siehr

doi:10.1242/dmm.044552

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. Meagan S. Siehr is first author on ‘ Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome’, published in DMM. Meagan conducted the research described in this article while a predoctoral fellow in Jeffrey L. Noebels's lab at the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. She is now a postdoctoral associate in the lab of Jeffrey L. Noebels at the Department of Neurology, Baylor College of Medicine, investigating translational approaches to model catastrophic developmental epilepsies and utilizing these models to understand therapeutic mechanisms.

Highlights

How would you explain the main findings of your paper to non-scientific family and friends? In this work, we utilized a mouse that harbors a particular mutation in the gene Arx, which in human patients causes infantile spasms, a severe, developmental epilepsy syndrome
We examined early brain development to understand how this Arx mutation perturbs neonatal brain development and, understand how clinical and preclinical hormone therapies [adrenocorticotropic hormone (ACTH) and estradiol] act on the brain during this early period
We were unable to identify the cell type that is undergoing cell death, we speculated that the reason cells may be dying is brain inflammation, as clinical treatment ACTH targets inflammation and it is welldocumented that brain inflammation leads to increased cell death

Summary

Introduction

Siehr is first author on ‘Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome’, published in DMM. Noebels at the Department of Neurology, Baylor College of Medicine, investigating translational approaches to model catastrophic developmental epilepsies and utilizing these models to understand therapeutic mechanisms. We utilized a mouse that harbors a particular mutation in the gene Arx, which in human patients causes infantile spasms, a severe, developmental epilepsy syndrome.

Results

Conclusion