REMINDER: Department of Infection, Immunity & Cardiovascular Disease Seminar – Tuesday 8th May 2018

Title: “Fabry disease: new insights on molecular pathogenesis and treatment”
Speaker:  Professor Hans-Peter Marti, University of Bergen.
Venue:  Lecture Theatre 3, F Floor Medical School.
Time:  1:15pm – 2:15pm
Abstract: Fabry disease, also known as Anderson-Fabry disease, is a clinically heterogeneous, X-linked lysosomal storage disorder first described in 1898 by Johannes Fabry and William Anderson. The disease is caused by deficiency of the lysosomal enzyme, α-galactosidase A (GLA) due to mutations in the GLA gene. Fabry disease is characterized by multi-organ involvement (e.g., skin, heart, kidneys, eyes, blood vessels and nervous system) due to accumulation of glycosphingolipids, primarily globotriaosylceramide (GL-3). In hemizygous males, clinical signs appear during childhood or adolescence, with a later onset of more variable symptoms in heterozygous females. Nephropathy is one of the main clinical manifestations of Fabry disease. Classical Fabry patients typically develop chronic kidney disease culminating in end-stage renal disease before the fifth decade. Enzyme replacement therapy, available for more than 15 years, has been shown to reduce GL-3 deposits and to halt or attenuate progression of Fabry nephropathy in many patients. Kidney biopsies are essential to establish the diagnosis, to monitor treatment effects and to elucidate disease mechanisms. Currently, additional treatment options are being evaluated, such as chaperone therapy to stabilise specific mutant forms of α-galactosidase A and gene therapy.

For enquiries, please contact: iicd@sheffield.ac.uk


FUTURE EVENTS FOR THE DIARY:

Tuesday 22nd May 2018
Title:  “Understanding and subverting leukocytic responses to sterile injury”
Speaker:  Dr Aleksandar Ivetic, King’s College London.
Venue:  Lecture Theatre 3, F Floor, Medical School.
Time:  12:30pm – 1:30pm
Abstract:  Inflammatory cells, such as monocytes and neutrophils are absolutely essential for keeping infections at bay. Intriguingly, the same immune cells can exacerbate “sterile (non-infectious) injury” in cardiovascular disease (e.g. atherosclerosis and myocardial infarction (MI)). Unearthing the molecular basis underpinning these conflicting leukocytic behaviours could provide a way in which to expose novel therapeutic targets that reduce sterile injury, but retain aggressive targeting of pathogens.

Alex is interested in understanding the cellular and molecular biology underpinning the inflammatory response, with a major focus on leukocytes and endothelial cells. Much of Alex’s research uses state-of-the-art microscopy; therefore taking a “seeing is believing” approach to his work. A recent sabbatical at the University of Calgary in the laboratory of Prof. Paul Kubes has enabled him to undertake in vivo imaging to model acute inflammatory responses.


Monday 11th June 2018
Title: “Respiratory Viral Infections at the Extremes of Age”
Speaker:  Dr Fiona Culley, Imperial College London.
Venue:  Lecture Theatre 3, F Floor Medical School.
Time:  12:30pm – 1:30pm
Abstract:  Respiratory Syncytial Virus (RSV) infection causes colds in most healthy adults, but in the very young and the elderly it can cause severe disease. Severe RSV infection in the very young (bronchiolitis) is associated with long term wheeze and asthma in childhood. Our work aims understand what is different about the immune system in the lung of the very young that makes infants more susceptible to infection. More recently our work on infection in elderly has allowed us to explore age dependent susceptibility to infectious disease.