Applications are closed as of 31 Oct 2023
Contenido
La Escuela de Invierno sobre Diagnóstico Fetal, organizada por ERN-ITHACA, tiene como objetivo subsanar una laguna formativa en materia de fenotipado fetal, análisis genético e interpretación de datos. Se trata de un curso de un solo día que incluirá clases teóricas básicas y talleres en profundidad sobre fenotipado, pruebas genómicas prenatales y las implicaciones para el asesoramiento genético. Para concluir, el programa servirá de puente entre los campos tratados mediante debates interdisciplinares sobre casos clínicos.
El curso está dirigido a especialistas y especialistas en formación en los ámbitos de la genética clínica y de laboratorio, la bioinformática, la obstetricia y la patología, con especial interés en la medicina prenatal.
El programa reúne a destacados científicos de las instituciones afiliadas al ITHACA y de los socios colaboradores en los campos de la medicina materno-fetal, la imagenología fetal, la patología fetal y la genética humana, con el fin de que los participantes puedan aprovechar al máximo esta amplia experiencia.
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.
Principales temas tratados
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.
Resultados del aprendizaje
Los alumnos aprenderán a manejar:
Las posibilidades que ofrece hoy en día el fenotipado fetal exhaustivo
La complejidad de las investigaciones genéticas en los fenotipos perinatales
The current state and future of fetal therapies
Importance of interdisciplinary work for family counselling
Detalles prácticos
Format: Physical
Dates: 07 – (08) December 2022
Location: Imagine Institute, Paris, France
Idioma: inglés
Carga de trabajo del estudiante: 15 horas
Horas lectivas: 8
Número máximo de participantes: 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
Para obtener más información o si tiene alguna pregunta, envíe un correo electrónico a: klea.vyshka@aphp.fr
Calendario
El curso consistirá en una combinación de clases magistrales tradicionales seleccionadas, talleres y sesiones de tutoría.
– 06th of December
Evening (06 pm): Welcome address by the Faculty members with a joint dinner
– 07th of December
Sesión matutina 1 – Conferencias – Auditorio principal
La primera sesión incluirá ponencias sobre los principales temas del curso y ofrecerá una visión general de los últimos avances en los distintos temas, como preparación para los talleres.
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)
Los talleres tienen como objetivo facilitar la comprensión de las especializaciones de las demás disciplinas mediante ejercicios prácticos y casos prácticos basados en las clases introductorias.
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.
Sesión vespertina – Debate sobre casos de uso / Presentación de casos (Auditorio principal):
El profesorado, junto con los participantes, analizará una selección de casos presentados por estos últimos.
– 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.
Proceso de solicitud
Los interesados deben rellenar el formulario de inscripción para la Escuela de Invierno aquí: https://forms.office.com/e/8vKkHB8Ss3. The application deadline is October 31, 2023.
Selected students will be notified by November 30, 2023.
Este curso se impartirá en el Imagine Institute (https://www.institutimagine.org/fr).
Viajes, alojamiento y tasas
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 La inscripción al curso es gratuita.
Profesorado
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