Mass Spectrometry–Based Precision Diagnostics in Haemostasis

Program

5:30–6:00 pm – Arrival and networking
6:00–6:45 pm – Prof. Emmanuel. J. Favaloro: Standard laboratory testing and diagnostic utility/limitations for antithrombin, fibrinogen, Factor VIII, Factor IX, and von Willebrand factor
6:45–7:30 pm – Assoc. Prof. Renee Ruhaak: Personalised medicine for improved patient care: Mass Spectrometry-based precision diagnostics for coagulation and bleeding disorders
7:30–8:30 pm – Refreshments and Networking

Professor Emmanuel J. Favaloro, PhD FFSc (RCPA)

Professor Emmanuel J. Favaloro is the Lead Scientist for the Sydney Centres for Thrombosis and Haemostasis, located at Westmead Hospital. He has (co-)authored over 800 papers, is the current Editor-in-Chief of Seminars in Thrombosis & Hemostasis, a member of the editorial/advisory boards of several other international journals, and a current or past member of several International Society on Thrombosis and Hemostasis (ISTH) Scientific Standardisation Committees (SSCs) and Working Parties. His primary interest is advancing laboratory testing and diagnosis related to bleeding and thrombosis, for example by developing and evaluating new or improved diagnostics.

Standard laboratory testing and diagnostic utility/limitations for antithrombin, fibrinogen, Factor VIII, Factor IX, and von Willebrand factor

Haemostasis is a homeostatic process that aims to ensure a balance between procoagulant and anticoagulant mechanisms, thereby reducing the risk of bleeding andthrombosis. Haemostasis is achieved from the balanced activity of various blood proteins. For example, fibrinogen is the majorclottableprotein in plasma, and defects and/or deficiencies in fibrinogen can lead to bleeding (e.g.,hypofibrinogenaemia/dysfibrinogenaemia). Similarly, factors VIII and IX are procoagulant factors that participate in various coagulation pathways, and deficiencies can lead to haemophilia A and B, respectively, representing common congenital bleeding disorders. von  Willebrand factor (VWF) is an adhesive plasma protein that helps drive primary haemostasis by interaction with platelets to form the so-called platelet plug, the initial driver to formation of a thrombus. Deficiencies or defectsin VWFcausevon Willebranddisease (VWD), themost common congenital bleeding disorder. In contrast, pathological increases in the level or activity of these 'procoagulant' proteins can lead to thrombosis.Onthe other side of the haemostasis coin are the anticoagulants. For example, antithrombin is a natural anticoagulant, and deficiencies or defects in antithrombin can lead to recurrent thrombosis. This talk will outline these concepts and provide background on how these proteins are assessed within standard haemostasis laboratories. The talk will also identify relative clinical utility and limitations of current assays.

Associate Professor Renee Ruhaak, PhD

Dr. Renee Ruhaak is currently an associate professor in the Department of Clinical Chemistry and Laboratory Medicine within the Leiden University Medical Center (LUMC). She has a background in analytical chemistry, specifically focusing on proteins and post-translational modifications. Her research focuses on the application of mass spectrometry within the clinical chemistry setting. This entails both development and implementation of quantitative protein mass spectrometry tests, as well as the role of mass spectrometry in metrology and test standardisation. Ultimately, her goal is to contribute to a more sustainable healthcare system through enabling of P5 medicine by clinical proteoform testing.

Personalised medicine for improved patient care: Mass Spectrometry-based precision diagnostics for coagulation and bleeding disorders

P5 (preventive, personalised, predictive, participatory, psychocognitive) medicine and patient-focused healthcare are globally recognised to enhance efficiency and generate a sustainable healthcare system. Currently, the diagnosis of coagulation and bleeding disorders, such as antithrombin deficiency (ATD) clusters patients into subgroups which are clinically heterogeneous, and relevant phenotypes may go unnoticed. Mass Spectrometry is a technology specifically suited for the simultaneous quantitation and molecular characterisation of proteins. To enhance diagnoses for coagulation and bleeding disorders, a targeted mass spectrometry (MS)-based strategy for the quantification of fibrinogen, VWF, FIX and FXI is being developed and validated. In-depth molecular characterisation of antithrombin is now feasible for antithrombin as an example and can in case of diagnostic uncertainty about ATD be recommended as an add-on test for unravelling the molecular basis of the clinical heterogeneity of ATD. Our MS-based quantitative proteomics tests aim to refine diagnoses in the field of thrombosis and haemostasis and improve patient management.

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