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Advanced Training Course Oxford
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You're invited to the ISTH Advanced Training Course in Oxford, England, September 6-9, 2016. The meeting will provide three full days of intense examination including education sessions, case sessions and meet the expert sessions devoted to discussion and close interaction with leading experts. 

Genetics and platelet function testing in the investigation of patients with platelet-based bleeding disorders

St. Anne's College, Oxford, England, UK

The course is designed to cover the latest techniques in genetic sequencing and platelet function testing and their use in the investigation of patients diagnosed with a platelet-bleeding disorder.

Severe platelet disorders such as Glanzmann’s thrombasthenia, Bernhard Soulier syndrome and extreme thrombocytopenia tend to be recognized earlier in life due to the severity of bleeding. Similarly, syndromic disorders such as Hermansky Pudlak syndrome are readily diagnosed because of the mild bleeding diathesis and associated features such as loss of hair color. In stark contrast, so-called ‘mild’ platelet disorders are both difficult to diagnose and to investigate because of the absence of a gold standard platelet function test and the unclear patent of inheritance. In many cases, notably males, the patient may have not been challenged until adulthood, and the bleeding diathesis undetected. In such cases, it is the experience of the consulting clinician who makes the diagnosis on account of the ‘very mild’ bleeding history and the absence of a defect in other hematological tests. 

Thus, there remains an urgent unmet need to develop a definitive assay of platelet function. Next generation sequencing methods are being used increasingly to diagnose a platelet, although in many cases, interpretation is a major challenge. While several new genes have been identified, notably for thrombocytopenia, and cases of autosomal dominance, the molecular basis of bleeding in 50 percent of patients remain undiagnosed, and for some, it remains unclear whether they even have a platelet disorder. Further, many of the new genes only appear to cause platelet dysfunction is a subset of patients.

Accreditation - Attendees may earn up to 18 credits for this course:
This course is accredited by the European Accreditation Council for Continuing Medical Education (EACCME) to provide the following CME activity for medical specialists. The EACCME is an institution of the European Union of Medical Specialists (UEMS). The course is designated for a maximum of 18 hours of European external CME credits. Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity. Physicians may convert EACCME credits to an equivalent number of AMA PRA Category 1 Credits.

The goal of this training course is to provide an environment for interaction and discussion with experts to address this unmet challenge. For a significant number of patients, the cause of bleeding is multifactorial due to a combination of several defective genes, acquired factors and other defect hematological factors (e.g. type 1 von Willebrand’s disease). The challenge is to understand the strengths and limitation of platelet function tests and genetic sequencing information, as well as the ethics genetic testing in the context of patient diagnosis. 

Course Design: 
The tranquil environment of an Oxford College, and a small number of participants, provides an informal environment for exchange of ideas discussion between experts and registrants. 12 lecturers (click here for their bios) will participate in the course with a range of backgrounds including platelet function assays, consultants in thrombosis and hemostasis, and representatives of the UK Bridge and GAPP programs that have taken distinct approaches in the diagnoses of platelet function disorders.

The course is suitable for clinicians and scientists who are interested in the investigation of patients and platelet function testing. There will be plenty of time to mingle with other participants and the experts.

Click below for more information:

Endorsed by: 



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