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Date: Monday, 18 September 2023, 16:00 CEST Topic: Challenges of interpreting genetic reports for clinicians Description: This session will be hosted by Professor Bodo Grimbacher who is with the Department for Immunodeficiencies at the University of Freiburg and is the current Chair of the ESID Genetics Working Party. During this session of the Grand Rounds, we will explore the topic of “Challenges of interpreting genetic reports for clinicians.” The schedule of presentations is as follows:1. An introductory talk by Andrés Caballero 5 min. and Adela Chirita-Emandi 5 min. on the basic nomenclature of human genetics and the importance of re-analyzing datasets regularly.2. Talk from Bodo Grimbacher: “The importance of careful phenotyping” 10 min.3. Talk from Roger Colobran: “Novel phenotypes of known genes” 10 min.4. Talk from Guilaine Boursier: “The problem of NEMO and NCF1” 10 min.5. Talk from […]

Date: Monday, 18 September 2023, 16:00 CEST Topic: Challenges of interpreting genetic reports for clinicians Description: This session will be hosted by Professor Bodo Grimbacher who is with the Department for Immunodeficiencies at the University of Freiburg and is the current Chair of the ESID Genetics Working Party. During this session of the Grand Rounds, we will explore the topic of “Challenges of interpreting genetic reports for clinicians.” The schedule of presentations is as follows:1. An introductory talk by Andrés Caballero 5 min. and Adela Chirita-Emandi 5 min. on the basic nomenclature of human genetics and the importance of re-analyzing datasets regularly.2. Talk from Bodo Grimbacher: “The importance of careful phenotyping” 10 min.3. Talk from Roger Colobran: “Novel phenotypes of known genes” 10 min.4. Talk from Guilaine Boursier: “The problem of NEMO and NCF1” 10 min.5. Talk from […]