Saving Lives by Changing Them
A team united in purpose and driven by a passion for better tomorrows. Their steadfast commitment stands as a beacon of hope for thousands of families.
Our Rett Researchers are Based in
A leading Neuroscience Institute, the University of Sheffield stands at the primacy of Rett Syndrome research with its wide range of expertise and approaches, including gene therapy, small molecule development and screening, electrophysiology, in vivo models, and gene editing, manufacturing, and testing. With the ability to take concepts to first in human studies at Sheffield and a commitment to using the patient's cells, this institute is set to make a significant impact in the fight against Rett Syndrome. Join us in our mission to bring hope to those affected by this heart-wrenching challenge.
Our Objectives
To collaborate with top medical institutions and experts to drive Rett Syndrome treatment innovation.
To relentlessly and rapidly advance the creation of a potent remedy for Rett Syndrome.
To utilise a multipronged, efficient, rapid pull-through pathway with initial clinical studies in humans.
To develop a template/pathway for other rapid pull through therapy for diseases and disorders.
Meet our team
Dr Sherif El-Khamisy
Chair in Molecular Medicine, PhD
Dr Sherif El-Khamisy is a leading expert in the field of DNA topoisomerases and their role in maintaining genetic integrity. He has made numerous groundbreaking discoveries in the field, including the mechanism of genomic instability and neural cell death in C9orf72 ALS, the discovery of protein-linked chromosomal break repair in the mitochondria, and the identification of the first human diseases resulting from the accumulation of Top2-linked DNA breaks. Throughout his career, Dr El-Khamisy has been honoured with numerous awards, including the Wellcome Trust Investigator Award, and he is a Fellow of the Royal Society of Chemistry, the Royal Society of Biology, and the Lister Institute of Preventative Medicine. Dr El-Khamisy's research focuses on the intertwined nature of the DNA double helix and the role that DNA topoisomerases play in breaking and sealing the double helix to resolve topological barriers. He is particularly interested in the repair of protein-linked DNA breaks (PDBs) and the impact that defects in TDPs can have on human health, including neurological disease.
Dr Laura Ferraiuolo
Neuroscience, PhD
Dr Laura is a renowned researcher in the field of neurodegenerative diseases. She is dedicated to developing new therapeutic strategies to support neurons with a focus on the role of non-neuronal cells in conditions such as motor neurone disease and therapeutic strategies to support neurons. Her areas of expertise include the creation of human cell models, gene expression profiling, gene therapy approaches, and drug screening. She has collaborated with top industrial partners, including Aclipse One, Pfizer, AstraZeneca, GSK, and BenevolentAI. Her contributions to the field of ALS were recognized with the Paulo Gontijo award in 2019.
Heather Mortiboys
Neuroscience, PhD
Award-winning PhD professor, who worked as a research associate in the Neurology department at the University Hospital Dresden where they investigated Co-enzyme Q deficiency in patient tissue as part of an EU-funded project. In 2006, she joined the Neuroscience department at the University of Sheffield as a postdoctoral research associate, where she set up mitochondrial investigations in models of Parkinson’s disease under the supervision of Professor Oliver Bandmann. Later, in September 2013 and established her own lab as a Parkinson’s UK Senior Research Fellow at the Sheffield Institute for Translational Neuroscience (SITraN). Her primary area of focus is the study of mitochondria in neurodegenerative diseases, with a particular emphasis on Parkinson's Disease.
Dr Alisdair McNeill
FRCP, PhD
A Clinical Geneticist, renowned for his profession of Rett syndrome. Possessing a thorough grasp of the disorder's clinical presentations and the mechanisms by which MECP2 deficiency induces disease, he stands at the forefront of the field. His focus of research lies in uncovering the genetic origins of neurological disorders in both pediatric and adult populations. In recent years, his team has made groundbreaking discoveries by identifying new neurogenetic syndromes linked to variations in the genes SOX4, SOX11, MYT1L, and SLC12A2. Utilising gait analysis and state-of-the-art wearable sensors, he has been able to detect subtle changes in motor function in individuals carrying presymptomatic mutations, such as the 22q11 deletion and genetic ataxias.
Dr Matthew Livesey
Neuroscience, PhD
A prominent scientific authority on the impact of altered chemical levels, particularly chloride, on brain cell function. With a wealth of experience in cell culture models of Rett syndrome, he is a leading expert in the field. In 2011, he moved to the University of Edinburgh and worked in the labs of Professors David Wyllie, Giles Hardingham, and Siddharthan Chandran, and explored the functional capabilities and developmental properties of pluripotent stem cell-derived cortical neurons. This research was further supported by a Royal Society of Edinburgh Fellowship awarded in 2015. He further assumed the role of principal investigator at SITraN to lead research on the neurophysiological perturbations in neurological diseases and their underlying mechanisms in 2020.