Inhalt
Die von ERN-ITHACA organisierte Winterakademie zur Fetal-Diagnostik zielt darauf ab, eine Wissenslücke in den Bereichen fetale Phänotypisierung, genetische Analyse und Dateninterpretation zu schließen. Als eintägiger Kurs umfasst sie Grundlagenvorträge und vertiefende Workshops zu den Themen Phänotypisierung, pränatale Genomtests und den Auswirkungen auf die genetische Beratung. Abschließend wird das Programm durch interdisziplinäre Fallbesprechungen eine Brücke zwischen den behandelten Fachgebieten schlagen.
Der Kurs richtet sich an Fachärzte und Fachärzte in der Ausbildung in den Bereichen klinische und Laborgeneetik, Bioinformatik, Geburtshilfe und Pathologie mit einem besonderen Interesse an der Pränatalmedizin.
Das Programm bringt herausragende Wissenschaftler aus den ITHACA-Mitgliedsinstitutionen und kooperierenden Partnern aus den Bereichen Fetal- und Müttermedizin, fetale Bildgebung, fetale Pathologie und Humangenetik zusammen, damit die Teilnehmer in vollem Umfang von dem umfangreichen Fachwissen profitieren können.
The Winter School is adjunct to the “Best of” annual meeting of the French Society of Fetal pathology (SoFFoet – http://soffoet.fr/) on Wednesday 07th December and students are invited also to join.
Behandelte Hauptthemen
This first course provides an overview of the subject matter and methodological principles in the complex field of prenatal medicine. It includes an introduction to HPO and its application on fetal phenotypes, opportunities and limitations of fetal imaging and fetal pathology as well as prenatal clinical genetics in the area of genomic medicine.
Lernziele
Die Studierenden lernen den Umgang mit folgenden Themen:
- Die Möglichkeiten der heutigen detaillierten Phänotypisierung des Fötus
- Die Komplexität genetischer Untersuchungen bei perinatalen Phänotypen
- Interpreting genomic results in fetal medicine
- Importance of interdisciplinary work for family counselling
Praktische Informationen
Format: Physical
Dates: (07) – 08 December 2022
Location: Imagine Institute, Paris, France
Sprache: Englisch
Arbeitsaufwand für Studierende: 15 Stunden
Unterrichtsstunden: 8
Maximale Teilnehmerzahl: 60
Get together on 07th of December at 6pm CET
The course takes place on 08th of December from 9am to 5pm CET
For further information or if you have any questions, please send an e-mail to: klea.vyshka@aphp.fr
Zeitplan
Der Kurs besteht aus einer Mischung aus ausgewählten klassischen Vorlesungen, Workshops und Tutorien.
– 07th of December
SOFFOET meeting (SoFFoet – http://soffoet.fr/) – from 09.30 am – 05.30 pm. To apply please fill in the form here: https://forms.gle/1wWbVKHfn7agMVJp9 before the 15th of November 2022.
Evening (06 pm): Welcome address by the Faculty members with buffet
– 08th of December
Morning Session 1 – Lectures – Main Auditorium
The first session will include lectures on the main focuses of the course and give a state-of-the-art overview for the topics in preparation of the workshops.
Introduction to HPO – Peter Robinson
Fetal imaging in the first and second trimester – Karl Oliver Kagan
Fetal Pathology: the deepest fetal phenotyping – Sophie Collardeau-Frachon
Prenatal Clinical Genetics – Isabel Filges
Morning Session 2 – Concurrent Workshops – Master classes / (Please select when applying):
Concurrent workshops are dedicated to deepen the focus for participants with solid basic knowledge using practical exercises / case studies
“HPO and related diagnostic tools” (Peter Robinson):
Participants will learn how to use the Human Phenotype Ontology (HPO) to represent clinical findings for differential diagnosis. We will use two freely available online tools – the Phenomizer for differential diagnosis and the Exomiser for HPO-based prioritization of variants in exome or genome sequencing. Laptops are required. Main audience: Geneticists
“From imaging to diagnosis” (Karl Oliver Kagan and geneticist):
Participants will learn about ultrasound markers for chromosomal abnormalities and genetic defects and the appropriate method of clarification.
Main audience: MFM specialists in training
“Fetal syndromology: don’t miss it!” (Robert Debré Team – Fabien Guimiot, Suonavy Khung, Marie-Hélène Saint Frison):
Participants will learn the benefice and input of fetal pathology for the diagnosis of genetic disorders. Case discussion will allow to point specific signs that should not be missed in selected conditions.
Main audience: Pathologists, Fetal Pathologists in training
Afternoon Session 1 + 2 – Workshops
Die Workshops sollen den Teilnehmern anhand praktischer Übungen und Fallstudien, die auf den Einführungsvorlesungen aufbauen, ein Verständnis für die Spezialgebiete der jeweiligen anderen Disziplinen vermitteln.
The focus of each workshop is designed to match the expertise of the participants in each of the other masterclasses.
“How to use HPO” (Peter Robinson):
The participants will learn to convert clinical descriptions into HPO terms.
“From imaging to diagnosis” (Karl Oliver Kagan and geneticist):
The participants will learn about the interaction between the fetal medicine experts and the geneticists.
“Why fetal pathology is important” (Tania Attié-Bitach & Isabel Filges):
With interactive case discussions and active participation from the audience, the participants will learn what fetal pathology can bring as compared to prenatal imaging, how it can orient the diagnosis, help genetic interpretation of variants, and contribute to the description of prenatal signs or rare disorders.
Evening Session – Use Case Discussion / Case presentation (Main Auditorium):
The faculty together with the participants will discuss selected submitted cases.
Bewerbungsverfahren
Applicants should fill in the application form for the Winter School here: https://forms.office.com/r/hvzHxsrnCN. The application deadline is October 31, 2022.
Selected students will be notified by November 05, 2022.
This course will be held at Imagine Institute (https://www.institutimagine.org/fr). Participating students might be asked to provide COVID-19 immunization proof when entering the location depending on the regulations in force in December.
Reisekosten, Unterkunft und Gebühren
Participants are expected to organise their own travel and accommodation. A limited number of scholarships is available only for participants whose employing institution cannot cover these costs (please see the application form to the Winter School for more information). The participation to the course is free of charge.
Fakultät
Tania Attie-Bitach – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris
Sophie Collardeau-Frachon – Department of Pathology, Claude Bernard University Hospital, Lyon
Andreas Dufke – Institute of Medical Genetics and Applied Genomics, University Hospital, Tübingen
Isabel Filges – Medical Genetics, University Hospital Basel and University of Basel
Fabien Guimiot – Fetal Pathology Unit, Department of Genetics, Robert Debré University Hospital, Paris
Karl Kagan – Women University Hospital, Tübingen
Suonavy Khung – Fetal Pathology Unit, Department of Genetics, Robert Debré University Hospital, Paris
Peter Robinson – The Jackson Laboratory for Genomic Medicine, Farmington
Marie-Hélène Saint Frison – Fetal Pathology Unit, Department of Genetics, Robert Debré University Hospital, Paris
Gijs Santen – Medizinisches Zentrum der Universität Leiden, Leiden
Klea Vyshka – Projektmanagerin und Rechtsreferentin ERN ITHACA, Abteilung für Klinische Genetik, Universitätsklinikum Robert Debré, Paris