Contenuto
La Winter School sulla diagnosi fetale, organizzata dal ERN-ITHACA, mira a colmare una lacuna formativa in materia di fenotipizzazione fetale, analisi genetica e interpretazione dei dati. Si tratta di un corso della durata di un giorno che comprenderà lezioni di base e workshop approfonditi sulla fenotipizzazione, sui test genomici prenatali e sulle implicazioni per la consulenza genetica. A conclusione, il programma metterà in relazione i diversi ambiti trattati attraverso discussioni interdisciplinari sui casi clinici.
Il corso è rivolto a specialisti e specializzandi nei settori della genetica clinica e di laboratorio, della bioinformatica, dell’ostetricia e della patologia, con particolare interesse per la medicina prenatale.
Il programma riunisce eccellenti ricercatori provenienti dalle istituzioni affiliate al ITHACA e dai partner collaboratori nei settori della medicina fetale e materna, dell’imaging fetale, della patologia fetale e della genetica umana, affinché i partecipanti possano trarre il massimo beneficio da questa vasta esperienza.
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.
Principali argomenti trattati
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.
Risultati di apprendimento
Gli studenti impareranno a gestire:
- Le possibilità offerte oggi dalla fenotipizzazione fetale approfondita
- La complessità delle indagini genetiche sui fenotipi perinatali
- Interpreting genomic results in fetal medicine
- Importance of interdisciplinary work for family counselling
Dettagli pratici
Format: Physical
Dates: (07) – 08 December 2022
Location: Imagine Institute, Paris, France
Lingua: inglese
Carico di lavoro degli studenti: 15 ore
Ore di lezione: 8
Numero massimo di partecipanti: 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
Programma
Il corso consisterà in una combinazione di lezioni frontali tradizionali selezionate, laboratori e esercitazioni.
– 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
I workshop hanno lo scopo di fornire una comprensione delle specializzazioni rispetto alle altre discipline attraverso esercitazioni pratiche e casi di studio basati sulle lezioni introduttive.
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.
Procedura di candidatura
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.
Viaggio, alloggio e spese
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.
Corpo docente
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 – Centro medico universitario di Leida, Leida
Klea Vyshka – Responsabile di progetto e addetta agli affari legali ERN ITHACA, Dipartimento di Genetica Clinica, Ospedale Universitario Robert Debré, Parigi