As many of you will already know, our colleague Professor Anne Goodeve will be retiring from the University in early November. Anne officially joined the University in 2001, but prior to that she was an Honorary Lecturer for several years with the Haemostasis group successfully dividing her time between the University and the NHS for some 28 years.
Her work has seen the translation of diagnostic genetics to research on the molecular pathogenesis of haemostatic disorders, in particular haemophilia and von Willebrand disease. In order to celebrate her time with the University, and her contribution to the field of haemostasis, we have invited her colleague and collaborator Professor David Lillicrap, Queen’s University, Ontario, Canada to deliver a seminar (full details below). The seminar will be followed by a drinks reception in the Medical School Café on C floor (5:30pm onwards). If you would like to attend the drinks reception, we would be grateful if you could register using the following link: https://goo.gl/forms/nisO8xqNSyq6p6Hn2
Title: “Molecular Genetic Advances in the Diagnosis and Care of Inherited Bleeding Disorders”
Speaker: Professor David Lillicrap, Queen’s University, Ontario, Canada.
Venue: Lecture Theatre 2, B Floor Medical School.
Time: 4:30pm – 5:30pm
Abstract: The cloning and characterisation of the genes for the common inherited bleeding disorders in the mid-1980s represented one of the initial examples of the translational impact of molecular biology on clinical medicine. Within a short period of time, the original genetic knowledge was being applied to molecular diagnostic strategies for these disorders and soon after, the first generation of recombinant clotting factors became available. The genes encoding FVIII, FIX and von Willebrand factor are now some of the most extensively studied sequences in the human genome, with a detailed documentation of the types and patterns of sequence variants that result in defective hemostasis. Paralleling these discoveries, the development of novel bioengineered clotting factor concentrates has continued for the past two decades and has now resulted in FVIII and FIX products that exhibit significant extensions to their circulating half-lives. Most recently, following several decades of variable success in pre-clinical models, gene therapy approaches for the treatment of hemophilia are showing consistent evidence of long-term therapeutic benefit with the potential for a cure of the disease. In many respects, advances in the clinical care of the common inherited bleeding disorders represent a paradigm for the successful application of molecular science to enhance diagnosis and treatment.
For enquiries, please contact: iicd@sheffield.ac.uk
