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Conference

30 Nov. 30/11/2023 Talere og støttemedlemmer
Opening Ceremony 09:00 09:30  
Importance of Genetics and Genomics in Personalized Medicine. 09:30 10:00
Pediatric Aspects in CdLS. 10:00 10:30
Adult issues in CdLS 10:30 11:00
Coffe break 11:00 11:30           
Gastroenterological problems in CdLS. 11:30 12:00
Neurological problems in CDLS 12:00 12:30
Peripheral nervous system involvement in CdLS. 12:30 12:50
Craniofacial development in CdLS 12:50 13:10
Subclinical myocardial dysfunction in CdLS 13:10 13:30
Lunch 13:30 15:00           
Special clinical cases of CdL 15:00 15:30
Prenatal issues in CdLS 15:30 16:00
Self-Injurious Behavior in CDLS: an interdisciplinary puzzle! 16:00 16:30
Coffee Break 16:30 17:00           
Behavioral observation: understanding (through) our senses. 17:00 17:30
Speech therapy support and AAC with Technology in patients with CdLS 17:30 18:00
Quality of life and comprehensive management of patients with CdLS. 18:00 18:30
Leisure Activities 18:30 20:30           
Diner 20:30 22:00           
Create new block starting at 22:00
1 Dec. 01/12/2023 Talere og støttemedlemmer
Genomic Diagnostics in Cornelia de Lange Syndrome and Related Diagnoses: Old Genes, Novel Genes and Common Mechanisms. 09:00 09:30
Control of transcriptional elongation by the cohesin complex . (to confirm) 09:30 10:00
The complex role and pathology of cohesin's STAG subunits 10:00 10:30
Genetic heterogeneity in CdLS. 10:30 11:00
Coffee Break 11:00 11:30           
Cellular senescence in the CdLS: a pharmacological target? 11:30 12:00
Epilepsy in SMC1A. 12:00 12:30
Single-cell analysis of transcriptional deregulation in early development in CDLS. 13:00 13:30
Hi-C low-input promoter capture: a method that allows exploring the non-coding role of the genome in CDLS with unknown genetic causes. 13:00 13:30
Lunch 13:30 15:00           
Clinical and molecular characterization of MAU2 gene. 15:00 15:30
Novel insights into CdLS neurobiology from human cortical brain organoids. 15:30 16:00
Modeling of the cohesin complex by molecular dynamics. 16:00 16:30
Coffee Break 16:30 17:00           
Special molecular cases of CdLS. 17:00 17:30
Parental and postzygotic mosaicism in CdLS. 17:30 18:00
Conference roundup: Present and future of CdLS. 18:00 18:30
Leisure activities 18:30 20:30           
Dinner 20:30 22:00           
Create new block starting at 22:00

Consultations

2 Dec. 02/12/2023 Talere og støttemedlemmer
General Pediatrics (children) 09:00 18:00
Genetic Counseling 09:00 18:00
Ophthalmology 09:00 18:00           
Cardiology 09:00 18:00           
Ears, Nose and Throat (ENT) 09:00 18:00           
Endocrinology 09:00 18:00           
Gastroenterology 09:00 18:00
Internal Medicine (adults) 09:00 18:00
Speech therapy 09:00 18:00           
Neurology 09:00 18:00
z. Other… (if requested and available) 09:00 18:00           
Psychiatry 09:00 18:00
Sexuality 09:00 18:00
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Workshops

2 Dec. 02/12/2023 Talere og støttemedlemmer
Parents 09:00 09:00
Siblings 09:00 09:00
Sexuality: 09:00 09:00
Create new block starting at 09:00

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