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Presentazione

The Eighth European Course in Clinical Dysmorphology & Eurodysmoclub are back-to-back events.

The Eighth European Course in Dysmorphology & Eurodysmoclub are characterized by the attendance of lecturers that will deal with the issue of which Medical Genetics considers them leading experts: hence the name “What I Know Best”. This is the 8th edition of the Course, only for a maximum of 250 participants, and it is going to be held via streaming.

Both national and international personalities are expected to participate. Furthermore, many of them are already subject matter experts.

During this new edition, the latest genetic conditions will be discussed, identified through the support of the most recent technological progresses, as the introduction of the new-generation Sequencing Methods.

The large participation recorded in previous editions and the request for a new edition from a great number of former participants are a significant sign of a considerable interest in Dysmorphology and in this specific Course.

The Eurodysmoclub is a unique occasion of sharing of extremely rare and educational clinical cases with world-class experts.

 

Programma

EURODYSMOCLUB
October 1st


11:30 Introduction Marcella Zollino (Italy)
11:40 Clinical Presentations Chair: Tjiske Kleefstra (Netherlands)
12:40 Pause
12:55 Clinical presentations Chair: Marcella Zollino (Italy)
13:55 Pause
14:10 Clinical presentations Chair: Angelo Selicorni (Italy)
15:10 End of the session


WHAT I KNOW BEST COURSE
October 2nd


11:40 Presentation of the Course
Karen Gripp, Fiorella Gurrieri, Tjitske Kleefstra


MAIN LECTURE

Judith Hall

“The old and the new in arthrogryposis”

Chair: Giovanni Neri (Italy)


SESSION 1
Syndromes with neurodevelopmental disorders
or epileptic encephalopathies
Introduction and chair: Marco Tartaglia (Italy)


12:00 The ITHACA network
Tjiske Kleefstra (Netherlands)
12:25 Syndromic neurodevelopmental K+ channelopathies
(Zimmerman Laband and so on)
Kerstin Kutsche (Germany)
12:50 Shaaf – Yang Syndrome
Christian Schaaf (Germany)
13:15 Pause
14:15 Pitt-Hopkins syndrome
Marcella Zollino (Italy)
14:40 Ayme-Gripp syndrome
Karen Gripp (USA)

SESSION 2
Neuropsychiatric Genetics
Chair: Christian Schaaf (Heidelberg)


15:15 Syndromes with (high chance) comorbid psychiatry
Tjiske Kleefstra (Netherlands)
15:40 From phenotype to SNVs and back
David Skuse (UK)
16:05 Pause
16:20 Neurodevelopmentally dangerous CNVs:
the IMAGINE study
Marjanne vd Bree (UK)
17:05 SATB2 associated phenotypes
Yuri Zarate, (USA)


October 3rd
SESSION 3


Rare and recently identified syndromes
Chair: Karen Gripp


14:00 Fontaine syndrome and Gorlin-Chaudhry-Moss
syndrome
Karin Writzl (Slovenia)
14:25 Mulibrey nanism
Kristiina Avela (Finland)
14:50 Pause
15:05 Sifrim-Hitz-Weiss syndrome
Karin Weiss (Israel)
15:30 MECT syndrome
Jeanne Amiel (France)


SESSION 4
WES diagnoses and further cohort identification
Chair: Tjitske Kleefstra
16:05 ANKRD11/KBG syndrome
Karen Low (UK)
16:30 DDX3X syndrome
Elliot Sherr (USA)
16:55 Pause
17:10 Adams-Oliver syndrome
Martin Zenker (Germany)
17:35 Conclusions
Karen Gripp, Fiorella Gurrieri, Tjitske Kleefstra

Informazioni

Obiettivo formativo

2 - Linee guida - protocolli - procedure

Mezzi tecnologici necessari

Required Hardware and Software features:

 

  • Windows Operating System (Vista or above) or Mac (OS 10 or above)
  • Built-in Sound and Video Card
  • Audio amplifier with speakers or headphones
  • Internet connection (preferibly ADSL for the best performance)
  • The latest version of one of the following browsers: Safari, Chrome, IE (8 version or above), Firefox. JavaScript and Cookies have to be enabled.
  • Adobe Reader or similar instruments for PDF downloads.

Supported operating systems: Android, iOS.

 

Procedure di valutazione

Multiple-choice questionnaire.

Responsabili

Responsabile scientifico

  • FG
    Prof.ssa Fiorella Gurrieri
    Responsabile dell’Ambulatorio di Genetica Medica de Policlinico Universitario Campus Bio-Medico di Roma
    Scarica il curriculum

Elenco delle professioni e discipline a cui l'evento è rivolto

Medico chirurgo

  • Genetica medica
  • Neurologia
  • Neuropsichiatria infantile
  • Pediatria
  • Psichiatria
  • Psicoterapia
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