Meeting 22q11.2 Deletion Syndrome
Meeting 22q11.2 Deletion Syndrome
We would like to invite you for the meeting entitled ‘Current insights in somatics within the 22q11.2 Deletion Syndrome’. The 22q11.2 deletion syndrome is the most common microdeletion syndrome. The meeting will focus on the most recent insights and current research questions involved in this syndrome.
More information about the meeting uitklapper, klik om te openen
The 22q11.2 deletion syndrome is characterized by broad phenotypic heterogeneity, which includes both psychologic and somatic aspects. During the meeting the latest insights on somatics of patients with the 22q11.2 deletion syndrome are shared. Moreover, together with the patient society, we will discuss the current research questions regarding this vulnerable group of patients.
Practical information uitklapper, klik om te openen
Date and time
January 23, 2020
09.30 am - 2.30 pm
Costs
Free of charge
Location
The meeting takes place at UMC Utrecht in the Auditorium Q-building. Follow route Q from the main entrance of the UMC Utrecht. When you arrive at the Q-building, the route to the Auditorium will be indicated with signs.
UMC Utrecht address:
Heidelberglaan 10
3584 CX Utrecht
Program uitklapper, klik om te openen
09.00 - 09.30 | Registration |
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09.30 - 09.35 | Introduction Prof. Castelein Full Professor department of orthopaedic surgery, UMC Utrecht |
09.35 - 10.00 | What's new with 22q11.2DS, an overview of samtics in 22q11.2DS Prof. McDonald-McGinn Clinical Professor of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Director, 22q and You Center, Children’s Hospital of Philadelphia. |
10.00 - 10.20 | Multidisciplinary approach and holistic care in 22q11.2DS: from infancy to adolescence Prof. Swillen Full Professor department of Human Genetics, KU Leuven |
10.20 - 10.40 | Medical outcomes in adults with 22q11.2DS Dr. Boot Physician for people with intellectual disability, ’s Heeren Loo |
10.45 - 11.15 | Coffee break |
11.15 - 11.35 | Velocardiofacial syndrome; the role of the plastic surgeon Dr. Mink van der Molen Reconstructive surgeon, WKZ/UMC Utrecht |
11.35 - 11.55 | Where Psychiatry and Orthopedics meet Dr. Breetvelt Psychiatrist, The Hospital For Sick Children Toronto |
12.00 - 13.00 | Lunch break |
13.00 - 13.25 | The 22q11.2 deletion syndrome as a model for idiopathic scoliosis Drs. Jelle Homans PhD candidate department of orthopedic surgery, UMC Utrecht |
13.25 - 13.30 | Brainstorm session Dr. Houben Pediatrician, WKZ |
13.30- 13.45 | Current somatic research questions a perspective from parents |
13.45 - 14.30 | Discussion on the current somatic research questions, how and where to answer them? |
14.30 - 15.00 | End of the meeting |
Contact us uitklapper, klik om te openen
For more information or if you have any questions, please contact Jelle Homans.
j.f.homans@umcutrecht.nl