Program:
Programme MaNaMa Day 1
Genetics in Belgium - recurrent day
15/10/24
Coordinator: Marije Meuwissen
Teachers: Marije Meuwissen, Saskia Bulk, Lynne Rumping
Location: UZ Brussel, Auditorium Kiekens, route 1001
Program:
13.00-14.30: Introduction of the 8 genetic centers by one trainee of each center. Who is who in the clinic? What are your clinic/lab specialties?
14.30-15.00: Break
15.00-15.45: Training requirements and useful tools in genetics- Sophie Uyttebroeck and Claire Fouquet
15.45-17.30: Reimbursement of consultations in genetics + an introduction to Portfolio – Kathelijn Keymolen
18.00-….: Optional diner in Jette
Programme MaNaMa Day 2
Will be postponed
Since only 3 participants registered for day 2, we decided together with the organizers to cancel the meeting on October 16.
Programme MaNaMa Day 9a
Connective tissue disorders
12/11/24
Coordinator: Fransiska Marfait
Teachers: Fransiska Malfait, Bert Callewaert, Sabine Hellemans, Sofie Symoens, Delfien Syx, Olivier Vanakker
Location: VUB campus Jette, Laerbeeklaan 103, 1090 Jette, Room: Forum and for the breaks the Atrium.
Program:
9:30-10 :30 Fransiska Malfait
- Introduction to Heritable Connective Tissue Disorders (HCTD)
- Overview of the Ehlers-Danlos Syndromes (EDS)
10:30-11:00 Break
11:00-12:00 Bert Callewaert
- Cutis Laxa Syndromes
12:00-12:45 Sabine Hellemans
- Coping and management of chronic pain in HCTD (Slides)
12:45-13:30: Lunch Break
13:30-14:30 Sofie Symoens
- Diagnostics in HCTD (Slides)
14:30-15:15: Delfien Syx
- Research in HCTD
15:15-15:30: Refreshment Break
15:30-16:30: Olivier Vanakker
- Ectopic Mineralization (Slides)
Programme MaNaMa Day 10
Late onset neurodegenerative disorders, neuromuscular disorders
17/12/2024
Coordinator: Bart Dermaut
Teachers: Bart Dermaut, Sarah Herdewyn, Patrick Santens, Jelle vanden Ameele, Christel Depienne, Saskia Lesnik Oberstein en Julie Rutten
Location: VUB campus Jette, Laerbeeklaan 103, 1090 Jette, Room: Forum (building R, restaurant) and for the breaks the Atrium
Program
09h00 – 10h00: Introduction: Genetic diagnostic testing in adult-onset neurological disorders. (Slides) Bart Dermaut, UZ Gent – LIVE, IN PERSON
10h00 – 10h45: Genetics of early- and late-onset dementias. (Slides) Bart Dermaut, UZ Gent – LIVE, IN PERSON
10h45 – 11h00: coffee break
11h00 – 11h45: Genetics of neuromuscular disorders. (Slides) Sarah Herdewyn UZ Gent - RECORDED LECTURE
11h45 – 12h45: Genetics of movement disorders. (Slides) Patrick Santens UZ Gent – LIVE, ONLINE
12h45 – 13h45: lunch break
13h45 – 14h45: Genetics of mitochondrial disorders. (Slides) Jelle vanden Ameele, University of Cambridge – LIVE, IN PERSON
14h45 – 15h45: Neurological repeat expansion disorders. (Slides) Christel Depienne, University Hospital Essen – LIVE, ONLINE
15h45 –16h00: coffee break
16h00 – 17h00: CADASIL and other hereditary brain small vessel diseases: relevant for medical (neuro)genetic practice? (Slides) Saskia Lesnik Oberstein/Julie Rutten, Leiden University Medical Center – LIVE, IN PERSON
Programme MaNaMa Day 11
Cardiovascular
11/02/2025
Coordinator: Yves S. & Bart Loeys
Teachers: Christian Dugauquier, Johan Saenen, Ewa Sieliwonczyk, Bert Callewaert
Location: VUB-campus Jette, Laerbeeklaan 103, 1090 Jette, Room: Auditorium Kiekens – Route 1001
Program:
- 10:00 - Embryology and Fetopathology (Slides)- Christian Dugauquier IPG
- 10:45 - Cardiology concepts for Geneticists (Slides) - Johan Saenen UZA
- 11:30 - Counselling considerations in inherited cardiac disorders (Slides)- GC Ewa Sieliwonczyk UZA
- 12:00 - Congenital heart disease (Slides)- Bert Callewaert UZGent
Lunch break 12:30-13:25
- 13:30 - Basic concepts in Ion channel disease Lg QT, Brugada,… (Slides) - Johan Saenen UZA
- 14:15 - Aortopathies, Marfan syndrome and related disorders - Bart Loeys – UZA
- 15:00 - Hypertrophic, Dilated and Neuromuscular CMP’s(Slides)- Emeline Van Craenenbroeck
- 15:45 - Syndromic forms 30 minutes - Marije Meeuwissen
Break 15'
- 16:30 - Next generation sequencing – different approaches - Sonia Van Dooren UZ Brussel
- 17:00 - Molecular autopsy (Slides)- Tomas Robyns
- 17:30 - Metabolic disorders (and the heart ) - Guillaume Debray
Programme MaNaMa Day 12
Neurocutan disorders, genodermatosis + vascular malformations
11/03/2025
Coordinator: Ellen Denaeyer
Teachers: Ellen Denayer, Yves Sznayer, Bert Callewaert, Miika Vikkula, Marianne Morren
Location: VUB Campus Jette, Laerbeeklaan 103, 1090 Jette, New Landmark Building, Room: Den Agora (Ground Floor).
Program:
9-10 h: Tuberous sclerosis complex and related conditions: (Slides) -Yves Sznayer
10-11 h: Epidermolysis bullosa/Hailey Hailey/Darier -Bert Callewaert
11-12 h: Vascular Malformations -Miika Vikkula
Lunch
13-14 h: Genetics of neurocutaneous disorders -Ellen Denayer
14-15h: Ichthyosis, rare genodermatoses and targeted treatment of hereditary skin disorders -Marianne Morren
15-16h: Neurofibromatosis type 1, type2 and schwannomatosis -Ellen Denayer
Each session will take 45-60 min and will be interactive.
Learning objectives:
- Learn the clinical presentations of the groups of hereditary skin disorders and vascular malformations
- Understand molecular genetic diagnosis of hereditary skin disorders and vascular malformations
- How to collaborate with dermatologists (genodermatoses consultation)
- Understand guidelines for diagnosis and surveillance of the relevant conditions
- To be aware of rare skin syndromes/vascular malformations and evolution in experimental/targeted treatment
Background knowledge required:
- General genetic knowledge
Programme MaNaMa Day 13
Sensory Diseases, Epigenetics
15/04/2025
Coordinator: Elfride Debaere & Catheline Vilain
Teachers: Elfride Debaere & Catheline Vilain
Location: VUB Campus Jette, Laerbeeklaan 103, 1090 Jette, New Landmark Building, Room: Den Agora (Ground Floor).
Program:
SENSORY DISEASES
The sound of silence and the dark side: shedding light on our senses
8h30-9h: Welcome
9h-9h45: Clinical and genetic aspects of otogenetics (Slides) (Ewa Sieliwonczyk)
9h45-10h30: Clinical aspects of ophthalmic genetics (Bart P. Leroy, MD, PhD.)
10h30-10h45: Coffee Break
10h45-11h30: Molecular aspects of ophthalmic genetics, (Slides) (Elfride De Baere,)
11h30-12h15: Gene therapy for rare eye diseases (Bart P. Leroy, MD, PhD).
12h15-12h20. Concluding Remarks
EPIGENETICS
13h00 – 13h40 - Introduction (Catheline Vilain ULB Clinical Geneticist):
- Biological principle of epigenetics
- overvieuw of Imprinting disorders and Mendelian disorders of the epigenetic machinery
13h40 – 14h40 Episignatures (Matthieu Defrance IB2 Research group leader)
- Addressing challenges and limitations in epigsignature for rare diseases diagnosis.
14h40 – 15h00 coffee break
15h00 – 15h30 Clinical utility of episignature analysis (Sebastian Neuens ULB Clinical Geneticist)
15h30 – 16h00 Imprinting disorders
- diagnostic tools and lab workflow (Laurence Desmyter ULB Lab scientist)
16h00-16h15 small break
16h15-17h00 Imprinting disorders
- Special needs of patients with SRS and PWS (Cécile Brachet ULB Pediatric endocriniligist)
Programme MaNaMa Day 14
Ethics, legal and societal and psychological aspects of genetics
13/05/2025
Coordinator: Marije Meuwissen
Teachers: Ariane Van Tongerloo, Sabine Hellemans, Jullie Nekkebroeck and Rani Cooreman (UZ Brussel)
Location: VUB Campus Jette, Laerbeeklaan 103, 1090 Jette, in the New Landmark Building, Room: Den Agora (Ground Floor).
The aim is to create an interactive session in which various topics will be addressed through patient case studies, and these will be discussed together with the residents.
The morning session will be led by Ariane Van Tongerloo and Sabine Hellemans (UZ Ghent), and the afternoon session by Jullie Nekkebroeck and Rani Cooreman (UZ Brussels). The lesson day has been organized by the Psychologists Working Group of the BeSHG.