{"id":5902,"date":"2024-10-10T13:21:56","date_gmt":"2024-10-10T11:21:56","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=5902"},"modified":"2025-10-28T14:40:31","modified_gmt":"2025-10-28T13:40:31","slug":"ern-ithaca-winter-school","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/it\/events\/ern-ithaca-winter-school\/","title":{"rendered":"ERN-ITHACA Winter School"},"content":{"rendered":"

Applications for the Winter School are extended until November 15<\/em><\/strong>.<\/p>\n\n\n\n

Content <\/h2>\n\n\n\n

The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions. <\/p>\n\n\n\n

The course will be held in Paris on 4 december, 2025, and is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine. <\/p>\n\n\n\n

The program gathers excellent scientists from ITHACA affiliates and collaborating partners in the fields of fetal-maternal-medicine, fetal imaging, fetal pathology, and human genetics so that participants benefit entirely from the vast expertise. <\/p>\n\n\n\n

The Winter School is adjunct to the \u201cBest of\u201d annual meeting of the French Society of Fetal pathology (SoFFoet \u2013 http:\/\/soffoet.fr\/) on Friday 05th<\/sup> December and students are also invited to join.<\/p>\n\n\n\n

 <\/p>\n\n\n\n

<\/div>\n\n\n\n

Main topics addressed <\/h2>\n\n\n\n

This course provides an overview of the subject matter and methodological principles in the complex field of arthrogryposis. It includes an introduction and classification of arthrogryposis, detection and diagnosis as well as early therapy and rehabilitation. The opportunities and limitations of fetal imaging and fetal pathology as well as prenatal clinical genetics in the field of genomic medicine will be explored in greater depth in the workshops. <\/p>\n\n\n\n

<\/div>\n\n\n\n

Learning outcomes <\/h2>\n\n\n\n

Students will learn how to handle: <\/p>\n\n\n\n

The possibilities of today\u2019s in-depth fetal phenotyping <\/p>\n\n\n\n

The complexity of genetic investigations in perinatal phenotypes <\/p>\n\n\n\n

The current state of peri-and postnatal management <\/p>\n\n\n\n

Importance of interdisciplinary work<\/p>\n\n\n\n

<\/div>\n\n\n\n

Practical Details <\/h2>\n\n\n\n

Format: Physical\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f 
Dates: 04 December 2025 
Location: Imagine Institute, Paris, France\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f\u202f 
Language: English 
Student workload: 15 hours 
Contact hours: 8 
Maximum number of participants: 60 
The course takes place on 04th of December from 8.30am to 6pm CET 
<\/strong>For further information or if you have any questions, please send an e-mail to: klea.vyshka@aphp.fr <\/p>\n\n\n\n

<\/div>\n\n\n\n

Schedule <\/h2>\n\n\n\n

The course will consist of a mixture of selected traditional lectures, workshops, and tutorials. <\/p>\n\n\n\n

\u2013 04th of December <\/strong><\/p>\n\n\n\n

Morning Session 1 \u2013 Lectures \u2013 Main Auditorium<\/em> <\/p>\n\n\n\n

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. <\/p>\n\n\n\n

Classification of Arthrogryposis and molecular pathways \u2013 Klaus Dieterich <\/p>\n\n\n\n

Fetal motility imaging and care pathway of arthrogryposis \u2013 Hanneke de Vries\/Arda Ardu\u00e7 <\/p>\n\n\n\n

Fetal pathology in arthrogryposis multiplex congenita \u2013 Ferecht\u00e9 Razavi  <\/p>\n\n\n\n

Early therapy and rehabilitation \u2013 V\u00e9ronique Bourg <\/p>\n\n\n\n

Morning Session 2 and Afternoon Session 1 + 2 \u2013 Workshops (repeated)<\/em> <\/p>\n\n\n\n

Workshops are intended to provide an understanding of the specializations to the respective other disciplines by means of practical exercises \/ case studies based on the introductory lectures. <\/p>\n\n\n\n

 \u201cGenetics \u2013 Phenotype-Genotype\u201d (Klaus Dieterich and V\u00e9ronique Bourg):<\/em> <\/p>\n\n\n\n

The ultrasound finding of reduced fetal movement, contractures with or without other anomalies is very challenging. Based on cases the participants will discuss and learn how phenotype details in arthrogryposis can inform the genetic testing strategy to obtain a diagnosis that serves as the basis for counselling on prognosis and postnatal management. <\/p>\n\n\n\n

\u201cImaging \u2013 Detection and diagnosis\u201d (Hanneke de Vries\/Arda Ardu\u00e7 and Isabel Filges):<\/em> <\/p>\n\n\n\n

In this session, the faculty will present and discuss a series of prenatal arthrogryposis cases for aspects of detection by imaging and how findings can guide the counselling for genetic analysis.<\/p>\n\n\n\n

\u201cFrom fetal pathology to diagnosis and backforward\u201d (Laurence Loeuillet, Bettina Bessi\u00e8res and Tania Atti\u00e9-Bitach):<\/em> <\/p>\n\n\n\n

Participants will learn the benefice and input of fetal pathology for the diagnosis of arthrogryposis phenotypes. Case discussion will allow to point specific signs that should not be missed in selected conditions. <\/p>\n\n\n\n

Evening Session \u2013 Use Case Discussion \/ Case presentation (Main Auditorium):<\/em> <\/p>\n\n\n\n

The faculty together with the participants will discuss selected cases submitted by participants. <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

\u2013 05th of December<\/strong> <\/p>\n\n\n\n

French Society of fetal pathology meeting (SoFFoet \u2013 http:\/\/soffoet.fr\/) \u2013 from 09.30 am \u2013 05.30 pm. To apply please fill in the form that you can find at the SoFFoet website before the 15th of November 2025. <\/p>\n\n\n\n

<\/div>\n\n\n\n

Application process <\/h2>\n\n\n\n

Applicants should fill in the application form for the Winter School here: https:\/\/forms.office.com\/e\/NiBGYwv7i9<\/a> .\u202fThe application deadline is October 31, 2025.<\/strong> <\/p>\n\n\n\n

Selected students will be notified by November 5, 2025. <\/p>\n\n\n\n

This course will be held at Imagine Institute (https:\/\/www.institutimagine.org\/fr). <\/p>\n\n\n\n

<\/div>\n\n\n\n

Travel, accommodation and fees <\/h2>\n\n\n\n

Participants are expected to organise their own travel and accommodation. The participation to the course is free of charge.<\/strong> Due to financial difficulties this year, we are unfortunately not able to offer scholarships.<\/p>\n\n\n\n

<\/div>\n\n\n\n

Faculty <\/h2>\n\n\n\n

Arda Ardu\u00e7 – Amsterdam UMC Expertisecentrum Foetale Akinesie Deformatie Sequentie en Arthrogryposis Multiplex Congenita, Amsterdam, the Netherlands<\/p>\n\n\n\n

Tania Attie-Bitach – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit<\/p>\n\n\n\n

Bettina Bessi\u00e8res, Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit<\/p>\n\n\n\n

V\u00e9ronique Bourg – P\u00f4le P\u00e9diatrie-G\u00e9n\u00e9tique, CHU Grenoble Alpes, France<\/p>\n\n\n\n

Klaus Dieterich – Service de G\u00e9n\u00e9tique Clinique, CHU Grenoble Alpes, France<\/p>\n\n\n\n

Andreas Dufke – MVZ genetikum GmbH, Stuttgart, Germany<\/p>\n\n\n\n

Isabel Filges – Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland <\/p>\n\n\n\n

Laurence Loeillet, Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit<\/p>\n\n\n\n

F\u00e9recht\u00e9 Razavi – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit<\/p>\n\n\n\n

Gijs Santen – Leiden University Medical Center, Leiden <\/p>\n\n\n\n

Hanneke de Vries – Amsterdam UMC Expertisecentrum Foetale Akinesie Deformatie Sequentie en Arthrogryposis Multiplex Congenita, Amsterdam, the Netherlands<\/p>\n\n\n\n

Lilia Ezzili – Project Manager, SoFFoet, French Rare Diseases Health Network, AnDDI-Rares, Department of Genomics of Rare Diseases, Necker-Enfants Malades<\/p>\n\n\n\n

Klea Vyshka – Project Manager & Legal Officer ERN ITHACA, Clinical Genetics Department, Robert Debr\u00e9 University Hospital, Paris <\/p>","protected":false},"excerpt":{"rendered":"

Applications for the Winter School are extended until November 15. Content  The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications […]<\/p>\n","protected":false},"author":253,"featured_media":0,"parent":103,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-5902","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nERN-ITHACA Winter School - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/it\/events\/ern-ithaca-winter-school\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA Winter School - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Applications for the Winter School are extended until November 15. 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