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|Larissa Wester, Christiane Stieber, Martin Muecke, Isabelle C Windheuser and Thomas Klockgether|
|University of Bonn, Germany|
|Posters & Accepted Abstracts: J Genet Syndr Gene Ther|
|At present, around 6000-8000 rare diseases are listed within standard diagnostic classification systems. In terms of diagnostics and therapy, rare diseases pose particular challenges. Patients without diagnosis are typically characterized by a long history of suffering, and of multiple clinical assessments and investigations. To improve the management of these patients the Center for Rare Diseases (ZSEB) at the University Hospital of Bonn, Germany established a new subunit, the Interdisciplinary Competence Unit for Patients without Diagnosis (InterPoD) in 2012. Following the InterPoD algorithm, specialists from diverse medical fields, the InterPoD physician, and students meet to discuss cases and assign a diagnosis. The patients’ cases are assed in an interdisciplinary manner, with a full review of all diagnoses assigned to date. Particular cases can be investigated in our out-patient clinic and missing information are collected in a detailed anamnesis. At the conclusion of this process, a final report is written for the patient. This may include recommendations such as feedback with proposed diagnoses or a referral to a specific center.|
Larissa Wester is a 5th year Medical student at the University of Bonn in Germany. She is currently working in the Center for Rare Diseases (ZSEB) at the University Hospital in Bonn, where the medical students act as an interface between the patients and the ZSEB physicians. The student is expected to generate an epicrisis and to consider diverse differential diagnosis in order to write a final report with recommendations to the patient.
Email: [email protected]
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