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Álvaro Murillo Bartolome

Mr Álvaro Murillo Bartolome

(he/him)

Research Associate, Dementia Research Institute

School of Medicine

Email
MurilloBartolomeA@cardiff.ac.uk
Campuses
Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ

Overview

My research goal is to understand the molecular mechanisms that underpin Huntington’s Disease (HD) and to translate that information into novel treatment avenues. HD is a progressive inherited neurodegenerative disease that usually occurs in adulthood and remains without effective curative treatments.

Publication

2023

2022

2021

2018

Erthyglau

Gwefannau

Research

Since I started my scientific career, my interest has been to improve knowledge about neurodegenerative diseases, specifically in Huntington’s disease (HD). With this idea, for the last two years of my bachelor’s degree in biology (2011-2013) and master’s degree (2013-2014), I enrolled in a project with the goal of removing mutant huntingtin aggregates by autophagy cell activation. After these years working with human cell line cultures and becoming familiar with the field of molecular and cellular biology, I moved to the Center for Applied Medical Research (Pamplona, Spain) to take pre-doctoral training in the field of dementia, neurodegeneration, and Huntington’s disease. There, I joined the Cellular Neurobiology Laboratory under the supervision of Isabel Perez Otaño. My work involved developing therapies targeting aberrant GluN3A expression in HD. GluN3A protein expression levels are increased in HD mouse models and its genetic deletion recover most of the motor symptoms. Thus, my project was focused on the reduction of GluN3A protein levels using RNA interference (RNAi) technology delivered by adeno-associated virus, as a possible treatment in humans. Reduction in GluN3A protein levels in neuronal dendritic spines in HD YAC128 mice improved motor symptoms. Due to the moving of the laboratory to the Neuroscience Institute in Alicante in 2017, I also started another project based on the study of temporal dynamics and cell expression of GluN3A. The main goal of this project was to identify brain nuclei with GluN3A expression and understand its expression in depth to validate it as a therapeutic target for HD. Furthermore, this study will help to understand other GluN3A aberrant expression disorders such as schizophrenia, bipolar disorder, or substance abuse. In 2020, I joined Vincent Dion’s lab at the UK Dementia Research Institute at Cardiff University as a postdoctoral fellow. Here, I have aimed to provide the in vivo proof of concept for an innovative CRISPR-based gene editing approach to treat HD. This is the first method capable of reducing the size of the CAG/CTG repeat that causes HD.

Biography

I started my scientific career in 2010 as an undergraduate student in Felipe Xose-Pimentel’s laboratory in the Cancer Research Institute at Salamanca University (Spain) for 3 years. I completed B.Sc. in general biology and biotechnology in 2013 and my MSc in Biology and Cancer in 2014 at the Salamanca University (Spain).

In 2015 I joined Isabel Perez-Otano’s lab as PhD in at the Centre for Applied Medical Research (CIMA) in University of Navarra (Spain) with a competitive fellowship “FPI” from Spanish government. My project as a PhD student was the use of RNAi against GluN3A, a NMDA receptor in neurons, as a treatment for HD.

Two years after, Isabel Perez-Otano moved her laboratory to the Institute of Neuroscience in Alicante (Spain). For the last two years of my thesis, I studied temporal and cell populations GluN3A expression in non-pathological conditions.

In 2020 I moved to Vincent Dion’s laboratory at the UK Dementia Research Institute at Cardiff University where I am studying gene editing tool to induce CAG/CTG contractions in Huntington’s Disease.