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 Friday 08th December and students are invited also to join.
Principali argomenti trattati
This course provides an overview of the subject matter and methodological principles in the complex field of prenatal medicine. It includes an introduction to AI and its application on fetal phenotypes, current state of fetal therapies, 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
The current state and future of fetal therapies
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 06th of December – more information to follow when participants are selected
The course takes place on 07th of December from 9am to 6pm CET
Per ulteriori informazioni o in caso di domande, inviate un’e-mail all’indirizzo: klea.vyshka@aphp.fr
Programma
Il corso consisterà in una combinazione di lezioni frontali tradizionali selezionate, laboratori e esercitazioni.
– 06th of December
Evening (06 pm): Welcome address by the Faculty members with a joint dinner
– 07th of December
Sessione mattutina 1 – Conferenze – Auditorium principale
La prima sessione comprenderà alcune lezioni sui temi principali del corso e fornirà una panoramica aggiornata sugli argomenti trattati, in vista dei workshop.
AI in prenatal imaging diagnosis – Monique Haak
Fetal therapies: state of the art – Ferdinand Dhombres
Prenatal therapy of Hypohidrotic Ectodermal Dysplasia – Smail Hadj-Rabia
Prenatal sequencing: when and how? – Gijs Santen
Morning Session 2 – Concurrent Workshops / (Please select when applying):
Concurrent workshops are dedicated to deepen the focus for participants with solid basic knowledge using practical exercises / case studies
“Upgrading variant classification based on phenotypes” (Isabel Filges and Gijs Santen):
Variant classification and reporting in a prenatal setting can be very challenging. Based on cases the participants will discuss and learn how prenatal/fetal phenotype details can inform variant interpretation in prenatal sequencing.
“From imaging to treatment” (Monique Haak and Ferdinand Dhombres):
In this session, the faculty will present and discuss a series of prenatal conditions for which imagining phenotypes guide the counselling for in-utero fetal therapies.
“From fetal pathology to diagnosis and backforward” (Marie-Hélène Saint Frison and Tania Atté-Bitach):
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.
Afternoon Session 1 + 2 – Workshops (repeated)
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.
“Upgrading variant classification based on phenotypes” (Isabel Filges and Gijs Santen):
Variant classification and reporting in a prenatal setting can be very challenging. Based on cases the participants will discuss and learn how prenatal/fetal phenotype details can inform variant interpretation in prenatal sequencing.
“From imaging to treatment” (Monique Haak and Ferdinand Dhombres):
In this session, the faculty will present and discuss a series of prenatal conditions for which imagining phenotypes guide the counselling for in-utero fetal therapies.
“From fetal pathology to diagnosis and backforward” (Marie-Hélène Saint Frison and Tania Atté-Bitach):
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.
Sessione serale – Discussione sui casi d’uso / Presentazione dei casi (Auditorium principale):
I docenti, insieme ai partecipanti, discuteranno alcuni casi selezionati presentati dagli stessi partecipanti.
– 08th of December
French Society of fetal pathology meeting (SoFFoet – http://soffoet.fr/) – from 09.30 am – 05.30 pm. To apply please fill in the form here: https://forms.gle/m5pxTtb6nFy9hE2i9 before the 15th of November 2023.
Procedura di candidatura
I candidati sono pregati di compilare il modulo di iscrizione alla Winter School qui: https://forms.office.com/e/8vKkHB8Ss3. The application deadline is October 15, 2023.
Selected students will be notified by October 30, 2023.
Il corso si terrà presso l'Imagine Institute (https://www.institutimagine.org/fr).
Viaggio, alloggio e spese
Participants are expected to organise their own travel and accommodation. A limited number of scholarships (five) 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 L'iscrizione al corso è gratuita.
Corpo docente
Tania Attie-Bitach – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris
Ferdinand Dhombres – Hôpital Armand-Trousseau, Assistance-Publique Hôpitaux de Paris
Isabel Filges – Medical Genetics, University Hospital Basel and University of Basel
Monique Haak – Leiden University Medical Center, Leiden
Smail Hadj-Rabia – Department of Dermatology, Necker-Enfants Malades University Hospital, Paris
Marie-Hélène Saint Frison – Fetal Pathology Unit, Department of Genetics, Robert Debré University Hospital, Paris
Gijs Santen – Leiden University Medical Center, Leiden
Klea Vyshka – Project Manager & Legal Officer ERN ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris