Dr Emyr Lloyd-Evans (Research Group Leader, senior Lecturer at Cardiff University)
My interest in lysosomes and lysosomal storage diseases started during my first PTY placement at the Weizmann Institute where I worked on the role of Ca2+ dyshomeostasis in Gaucher disease. Since then I have worked extensively on Niemann-Pick disease type C and more recently the Neuronal Ceroid Lipofuscinoses. I am also interested in the role of lysosomes in other diseases and recent work has focused on the role of the lysosome in more common diseases of ageing such as Alzheimer’s. A major theme running through my research is the role of abnormal Ca2+ signalling in disrupting lysosomal function in these diseases.
Read more about me at Linkedin.
Dr Helen Waller-Evans (Senior post-doc)
I am a developmental biologist with an interest in lysosomal diseases that spans back to a summer research project at the Weizmann Institute in Israel and my D.Phil in Oxford on orphan genes that affect development. I have considerable expertise in immunohistochemistry having been employed as a histologist in Oxford and following a post-doc in Cardiff on the role of neurotrophins in development. I also have considerable expertise in molecular biology from my D.Phil and lipid biology from a research assistant position at Oxford.
Here in the Lloyd-Evans lab my role is both lab manager and senior lab post-doc. I assist with several of the undergraduate and Masters student research projects. My research involves uncovering the disease mechanisms that underlie pathology in the neuronal ceroid lipofuscinoses. In particular I am interested in CLN6 and CLN3 and I am funded through the European Union BATcure project.
Previous work in the lab includes completion of a project assessing intracellular Ca2+ stores in the lysosomal disease mucolipidosis type IV and development of a new treatment strategy for the mucopolysaccharidoses (types II, IIIa and VII). More recently I completed a post-doc funded by Action Medical Research to determine the efficacy of Niemann-Pick therapies on Smith-Lemli-Opitz Syndrome. This research is currently being prepared for publication.
Finally, I have also cloned and developed (alongside a number of Cardiff University undergraduate final year project students) a new tagged European version of the sphingomyelin binding toxin lysenin, which we routinely use in the lab for immunocytochemistry.
Current funding – BATcure
Dr Luke Haslett (post-doc)
As a research student I was introduced to lysosomal storage disorders whilst working with Dr. Lloyd-Evans at the University of Oxford. Having decided to continue in this field of research through my postgraduate study I completed a Ph.D thesis entitled “Lysosomal Storage Disorders and Neurodegenerative Disease; related Mechanisms of Pathogenesis and identification of Novel Therapeutic Targets” under the supervision of Dr. Lloyd-Evans. During my Ph.D I studied the role of the lysosome in Alzheimer’s, Huntington’s and Parkinson’s diseases.
Currently, I am a post-doctoral research associate studying the role of the CLN3 protein in lysosomal Ca2+ homeostasis. Loss of function in the CLN3 protein due to an inherited genetic mutation is the molecular cause of CLN3 disease. Action Medical Research have funded these studies to try and elucidate the function of CLN3 and try and determine if therapies already used in patients could be beneficial in treating CLN3 disease. This project has received additional support from the Beyond Batten Disease Foundation and NCL-Stiftung. I have also contributed to the European Union BATcure project.
Recently I have begun supervision of both undergraduate and masters students researching the cell biology of the related disorder CLN7 disease. This project, funded by SPARKs, is aimed at determining phenotypes which could be used for high-throughput drug screening as there are currently no therapies for this disease.
Miss Emily Kirkham (Research assistant/PhD)