Clinical Working Party
September 2023: Challenges of interpreting genetic reports for clinicians
Date: Monday, 18 September 2023, 16:00 CEST
Challenges of interpreting genetic reports for clinicians
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 Kimberly Gilmour: “Expect the unexpected” 10 min.
6. Talk from Jonathan Bohlen: “Fancy genetics” 10 min.
7. Q&A session.
Learning objectives of the ESID Grand Rounds September on IEI Genetics:
1. Knowing the basic nomenclature of human genetics
2. Understanding of the importance to re-analyze genetic datasets regularly
3. Understanding the importance of careful phenotyping and the communication of phenotypes
4. Understanding of the problem analyzing e.g. NEMO and NCF1 with NGS panels
5. Be alerted of rare causes of genetic abnormalities in IEI patients
Professor · Institute for Immunodeficiency at the University Hospital Freiburg.
Prof. Bodo Grimbacher is a physician scientist and the Vice-Director of the Institute for Immunodeficiency at the University Hospital Freiburg. Additionally, he is an honorary consultant for the Department of Immunology at the Royal Free Hospital, University College London, where he worked until 2011.In 2004 Prof. Bodo Grimbacher set up the ESID registry, an internet-based patient and research database for over 200 different primary immunodeficiencies which was supported and sponsored by the European Commission under the 6th Framework Program. From 2006 to 2010, he was the secretary of the European Society for Immunodeficiencies.
- Andres Caballero Garcia de Oteyza
- Studied Biology with specialty in genetics, cellular and molecular biology at the Autonomous University of Madrid, Spain
- Obtained a PhD in Molecular Neurosciences by the University of Tuebingen, Germany, working on the genetics of hereditary spastic paraplegias and spastic ataxias.
- PostDoc in the group of Prof. Bodo Grimbacher at the Center of Chronic Immunodeficiency in Freiburg, Germany, working on the genetic basis of primary immunodeficiencies.
- Geneticist at the private company Health in Code S.L. in Spain.
- Vice-lead of the Genetics & Genomics Units at the Center of Chronic Immunodeficiency in Freiburg.
- PostDoc in the group of Prof. Michele Proietti at the Rheumatology and Clinical Immunology department of the Hannover Medical School, Hannover, Germany. Main project: The GenIA database.
- Adela Chirita-Emandi
Adela Chirita-Emandi is a consultant in Medical Genetics, in the Regional Center of Medical Genetics Timis within the Emergency Hospital for Children “Louis Țurcanu” Timişoara, a reference center in the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ITHACA. In addition, she is part of the Romanian ophthalmogenetics Reference Center in ERN EYE. She is Associate Professor (Doctor habilitatus) in the Department of Genetics and Center of Genomic Medicine of the University of Medicine and Pharmacy Victor Babes Timisoara, Romania. The experience in research includes more than 40 scientific papers published in international journals (including Nature and The Lancet). She is a Vice president of the Romanian Society of Medical Genetics, and member of the European Society of Medical Genetics ESHG. The main clinical interests are rare diseases, including syndromes with intellectual disability, inborn errors of immunity, rare eye disease.
Dr. at University Hospital Vall d'Hebron Research Institute (VHIR)
Dr. Roger Colobran is an immunologist and geneticist. He is the Head of Translational Immunology Reseach Group in Vall d’Hebron Research Institute (VHIR). He is also the Head of Immunogenetics Area in Hospital Universitari Vall d’Hebron (HUVH) and Professor of Immunology in the Autonomous University of Barcelona (UAB). Dr. Colobran is the head of genetic studies of patients with primary immunodeficiencies in HUVH. His main research line is the description and characterization of novel genetic basis of inborn errors of immunity. He is the principal investigator of several research projects and published more than 90 scientific papers in indexed journals.
- Guilaine Boursier
Dr Guilaine BOURSIER (PharmD-PhD) is board-certified in clinical molecular genetics. She leads the Genetics National Reference Laboratory of Autoinflammatory diseases unit in the Department of Molecular Genetics and Cytogenomics at University Hospital of Montpellier, France and Chief Editor of Infever, the internationally-recognized registry of Autoinflammatory diseases variants. She is involved in the national clinical French reference center for autoinflammatory diseases and amyloidosis (CEREMAIA) in the team “Cellules souches, plasticité cellulaire, médecine régénératrice et immunotherapies” at the Institute for Regenerative Medicine, INSERM, University of Montpellier.
- Kimberly Gilmour
Kimberly Gilmour received her PhD from SUNY at Stony Brook. After a research fellowship at the Imperial Cancer Research Fund (Cancer Research UK), she was hired by Great Ormond Street Hospital to translate her PhD work into clinical diagnostics and obtained her FRCPath. Kimberly now is the Chief of Laboratory Medicine, Clinical Lead for the Immunology and Director of Cell Therapy at GOSH. In conjunction with molecular genetics she developed and runs the national service for diagnosis primary immunodeficiency. Kimberly specializes in translational research developing assays for the diagnosis of patients with primary immunodeficiency and for monitoring patients post cell and gene therapies.
- Jonathan Bohlen
Dr. Jonathan Bohlen is a molecular biologist working as research fellow at the Imagine, Institute of genetic disease in Paris, France. During his PhD, he studied the molecular mechanisms of gene expression control at the translational level. Today, he works on the mechanism of germline and somatic genetic predisposition to immunological disease, in particular susceptibility to infection, autoinflammation and autoimmunity, in human patients.
The 2023 ESID Grand Rounds are supported by the Barcelona PID foundation:
"The Barcelona PID Foundation is a non-profit organization founded in 2014 by patients and healthcare professionals. We work to provide support and resources to patients with PID and their families, to increase awareness of these rare diseases among non-immunologists and the general public, and to promote high-quality research in this field."
September 18, 2023 16:00 CEST in Amsterdam, Berlin, Rome, Stockholm, Vienna