Short program:

at VUB, Campus Jette, Laarbeeklaan 103, 1090 Brussel, from 8:30 - 18 uur:

Detailed information per course day will come available below

Programme MaNaMa Day 1

10/10/23 - UZ Brussels

At VUB campus Jette, Laerbeeklaan 103, 1090 Jette

Room: Forum and for the breaks the Atrium

It should be noted that this year we will only provide drinks (coffee/tea, water (still and sparkling) during the breaks. Sandwiches will no longer be provided.

9.00 – 9.15 Welcome

Saskia Bulk (ULiège) and Marije Meuwisse (UZA)

9.15 – 11.00 Presenting centers and trainees

- Trainees present themselves and their center (staff including assistants, expertise, training, required courses, etc)

- Assistants present their non-genetics rotation (what did these specialties bring to the formation as clinical geneticist and/or PhD topic)

11.00 – 11.30 Coffee

11.30 – 12.00 Yearly speech by presidents of the commission (french and dutch speaking)

Koen Devriendt (KUL) and Vincent Bours (ULiège)

Training and recognition, role of different organs, genetic landscape in Belgium

12.00 – 12.15 European Certificate in Medical Genetics and Genomics (ECMGG)

Laura Polsler and Sophie Uyttebroekck (VUB) (Slides)

Tops and tips on how to prepare for the European exam

12.15 – 13.15 Lunch

13.15 – 13.45 The ELSI committee : ethical and legal aspects of clinical genetics

Jean-Stéphane Gatot (Uliège) (Slides)

13.45 – 13.15 Meat the actors in clinical genetics: 

 The psychologist, the genetic counselor and the laboratory specialist

Julie Nekkebroeck, Ileen Slegers, and Alexander Gheldof (VUB) (Slides)

14.15 – 14.45 Coffee

14.45– 16.00 Yearly discussion of difficult cases (medically or ethically)

This year, we focus on our nightmarish cases with terrible intrafamilial communication (index case does not want to inform their family, index cas was not informed by their family, affected children were born because nobody bothered to tell cousin Lucy that a diagnosis was made…, etc.).

• Each center presents one case, with a focus on the communication aspect. After presentation of each case, we will discuss alternative ‘solutions’.

16.00 – 17.00 How to inform relatives - an international comparison and suggestions how to apply in Belgium?

Lynne Rumping (UZA) (Slides)

17.00 Wishing everybody a safe trip home

 Saskia Bulk (ULiège) and Marije Meuwisse (UZA

Programme MaNaMa Day 2

                                                                                    Genome diagnosis

11/10/23 - UZ Gent

Coordinator: Bruce Poppe

Teachers: Sofie Symoens & Annelies Dheedene

Location: UZ Gent campus, MRB2, entrance 38, campus UZ Gent.

Program

• 9:30 – 10:30

Cytogenomic technologies for constitutional and acquired disorders: karyotyping, FISH, QF-PCR, 

shallow whole genome sequencing and microarray (CGH and SNP), NIPT (Annelies)

• 15’ break

• 10:45 – 12:15

Gene panel analyses (targeted/customized gene panels) (Sofie) 

Whole exome and whole genome sequencing (Annelies)

PGT-SR and PGT-A (Annelies)

PGT-M, coPGT, BeGECS and carrierships (Sofie)

• 45’ lunch

• 13:00 – 14:15

Variant classification for constitutional and acquired diseases (Sofie & Annelies)

• 15’ break

• 14:30 – 16:00

Educational cases and illustrations of genetic reports

• 15’ break

• 16:15 – 18:00

Exercises: interpreting and reporting genetic analyses

Aims/learning objectives

- How to write and read a clinical genetic report

- The student knows and is able to use in silico tools for genome analysis in clinical genetics.

- The student will learn the principles of variant classification

What you need to know before taking this course:

haploinsufficiency, dominant negative, gain-of-function, different types of variants

Handout:

• Sources of genetic material

Sources and extraction of RNA, DNA, protein, mitochondrial DNA, fibroblast culture, EBV, ..

• Sequencing: from DNA to raw data to the variant list

- The basis of some techniques are illustrated with the aim to understand how already in these first stages certain mutations may be missed

- Types of variants that can be retrieved from exome/genome (e.g. SNV, CNV, other structural variation, microsatellites, …)

- nomenclature of variants (deletions, insertions, etc.)

• Variant interpretation

            o In silico 

Databases

           Genome Browser: ensembl and UCSC Protein structure databases

           Mutation databases: Clinvar, LOVD, other databases Normal variation databases: gnomAD

Variant classification

           ACMG rules for variant classification

           In silico prediction programs

           classification incorporating phenotypic information – HPO terminology

           o In vivo: segregation analysis 

Clinical databases

           Orphanet, GeneReviews, OMIM, Pubmed, … 

           Data sharing: Decipher, Genematcher

           o In vitro

Functional: splicing, structure of proteins

Programme MaNaMa Day 3

                                                                                    Cancer Genetics

14/11/23 - UZ Brussels

Program:

09:00-09:20 General introduction Frederik Hes

09:20-10:30 Breast Cancer (HBOC), diagnosis, guidelines for surveillance Jenneke van den Ende

10:30-10:45 Break

10:45-12:45 Colorectal Cancer Kathleen Claes, Karin Dahan (small break included)

Lynch syndrome, diagnosis, guidelines for surveillance, and cases

Polyposis syndromes, diagnosis, guidelines for surveillance and cases

12:45-13:30 Lunch break

13:30-14:30 Cases: Jenneke van den Ende, Frederik Hes

in 2 groups of students, cases are discussed with choice of genetic tests, results, follow-up plan and counseling

14:30-15:30 Tumor genetics and implications for treatment Philippe Giron

15:30-15:45 Break

15:45-17:00 Rare cancers Frederik Hes

Endocrine tumor syndromes, rare gastro-intestinal syndromes, geno-onco-dermatoses

Preparatory literature:

10 rare tumors that warrant a genetics referral , Belgian guidelines for Managing Hereditary Breast and Ovarian Cancer , National consensus and clinical guidance for diagnosis and management of Lynch Syndrome and NCCN Guidelines: Genetic/ Familial High‐ Risk Assessment.

Programme MaNaMa Day 4

Endocrinologie and Genetics

12/12/2023 Jette

At VUB campus Jette, Laerbeeklaan 103, 1090 Jette

Room: Agora, that’s building R

It should be noted that this year we will only provide drinks (coffee/tea, water (still and sparkling) during the breaks. Sandwiches will no longer be provided.

8h55 : 

brief introduction Catheline Vilain.

9:00-9:50

“Disorders of the pituitary”. 

Cécile Brachet ULB-Hôpital Universitaire des Enfants Rein Fabiola - Endocrinologie pédiatrique

How to recognize a disorder of the pituitary? What will the child have to go through: What is the clinical work-up and diagnostic algorithms? What is the impact in his.her everyday life? How is he.she taken care of? Where does the genetic work-up stands, and how does it help taking care of the patient?

 9:50-10:40

“Disorders of glucose homeostasis”. 

Philippe LYSY UCL – Cliniques Universitaires Saint Luc - Endocrinologie pédiatrique - diabétologie

How to recognize a disorder of glucose homeostasis? What is the clinical work-up and diagnostic algorithms? What is its genetic basis, and when do we have to prescribe a genetic work-up, and how does it help taking care of the patient?

How is he.she taken care of nowadays? 

Coffee break

11:00-11:50

 “Disorders of the Phospho-Calcic metabolism”. 

Erika Boros ULB-Hôpital Universitaire des Enfants Rein Fabiola – Endocrinologie pédiatrique 

How to recognize a disorder of the Phospho-Calcic metabolism (rickets, Albright osteodystrophy, pseudohypoPTH)? What will the child have to go through? What is the clinical work-up and diagnostic algorithms? What is the impact in his.her everyday life? How is he.she taken care of? Where does the genetic work-up stands, and how does it help taking care of the patient?

11:50-12:40

 “Disorders of the thyroid”. 

Erika Boros ULB-Hôpital Universitaire des Enfants Rein Fabiola – Endocrinologie pédiatrique

What happens when a child has an increased TSH on neonatal screening? How to recognize hypothyroidism which escaped neonatal screening? What are the other disorders of thyroid metabolism to be aware off? What will the child have to go through: What is the clinical work-up and diagnostic algorithms? What is the impact in his.her everyday life? How is he.she taken care of? Where does the genetic work-up stands, and how does it help taking care of the patient?

Lunch Break

13:20-14:10

“Disorders of the adrenals”.

Martine Cools UZ Gent - Endocrinologie & Diabetologie voor kinderen en adolescenten

How to recognize a disorder of the adrenals metabolism? How not missing diagnosis such as triple A syndrome? What will the child have to go through? What is the clinical work-up and diagnostic algorithms? What is the impact in his.her everyday life? How is he.she taken care of? Where does the genetic work-up stands, and how does it help taking care of the patient?

14:10-15:00

 “Short an tall stature “

Jean De Schepper UZBrussels – Endocronologie and diabetologie

15:00-16:10

Overweight and underweight

Jean De Schepper Brussels UZBrussels – Endocronologie and diabetologie

When is a child to small, to tall, to thin, overweight? When is a clinical work up requested? What is the clinical work-up and diagnostic algorithms? Where does the genetic work-up stands, and how does it help taking care of the patient?

16:10-17:00

“Disorders of Puberty”. 

Anne Simone Parent – ULg – CHU Liège – Endocrinologie pédiatrique.

When is late/precocious puberty? When is a clinical work up requested? What is the clinical work-up and diagnostic algorithms? What is the impact of the condition on his.her everyday life? How is he.she taken care of? Where does the genetic work-up stands, and how does it help taking care of the patient?

Programme MaNaMa Day 5

Dysmorphology and Syndromology

13/02/2024 Jette

At VUB campus Jette, Laerbeeklaan 103, 1090 Jette

Room: Auditorim P. Brouwer, building A

It should be noted that this year we will only provide drinks (coffee/tea, water (still and sparkling) during the breaks. Sandwiches will no longer be provided.

Coordinator Koen Devriendt

Learning objectives : 

- the student has insight in the basic dysmorphological examination, including description of signs and symptoms, documentation, …

- the student understands the different mechanisms that can lead to congenital anomalies, and has insight in the causes of distinct patterns of malformations

- the student learns how one can reach a syndrome diagnosis using different resources (e.g. literature, databases, electronic tools) and understands factors contributing to variability in expression of syndromes

Papers elements of morphology:  User guide elements of morphology, Introduction, External Genitalia, General terms for congenital anomalies, Hands and feet,  Head and face, Lips mouth oral region, Nose and philtrum, Periorbital region, Teeth and Ear. 

Handbook of Physical Measurements

9.00-9.45 : 

the Phenotype : systematic approach of dysmorphological evaluation :

Definitions and illustrations of minor/major variants and anomalies, series from AJMG, - speaker : K. Devriendt (Slides)

Time : 45 min

9.45-10.45 : 

Pathogenesis : the embryological or fetal origin of anomalies.

& Etiology : the genetic or teratogenic etiology of congenital anomalies

syndrome, sequence, association, malformations, disruption …, neurocristopathies,

From molecules to phenotype : rasopathies, chromatinopathies, ciliopathies; genotype-phenotype correlations Mechanisms of teratogens - speaker : I Maystadt (Slides)

time : 1 hr

10.45-11.15 : break

11.15-12.15 

From phenotype to syndrome recognition

Clinical aspects : how to reach a diagnosis clinically ?
° Clinical tools for syndrome recognition : databases, books, , …
° signs and symptoms not to miss
° certain signs should alert you to associated other anomalies (e.g. ear pits and renal anomalies, supernumerary nipple and renal anomalies), …. - speaker : Damien Lederer (Slides)

time : 1 hr

12.15-12.45

Variability in expression of genetic syndromes 

ethnic differences - speaker : Aimé Lumaka 

time : 15 min

syndromes at an older age

speaker : Griet Van Buggenhout (Slides)

time : 15 min

12.45-13.30 : lunch break

13.30-13.50

Registries of congenital anomalies 

(eurocat, SPE Flanders, …) - speaker Jenneke Van den Ende (Slides)

time : 20 min

13.50-14.10

ERN – ITHACA (20 min)

speaker : A. Verloes (Slides)
 

14.10-14.30

The 100 common syndromes list (see below)  

introduction – speaker : Marije Meeuwissen

14.30-15.00

Electronic recognition of syndromes : 2D and 3D - speaker : Hilde Peeters (slides)

short break

15.15-17.00

Clinical syndromology – interactive case discussions with students

Coordinators : Catheline Vilain & Marije Meeuwissen

Programme MaNaMa Day 6

Intellectual disability, autism, psychiatric diseases

12/03/2024 Jette

At VUB campus Jette, Laerbeeklaan 103, 1090 Jette

Room: Auditorim 5, Building A

It should be noted that this year we will only provide drinks (coffee/tea, water (still and sparkling) during the breaks. Sandwiches will no longer be provided.

Learning objectives : 

- To know the definitions of ID, ASD and of the main psychiatric diseases

- To understand the neurosciences models for ID and ASD

- To understand the specificity , the indications and the limits of the various neuropsychologic tests (IQ tests, ASD tests,...)

- To know the functions of the administrative structures involved in the social care of patients with ID/ASD/psychiatric disease in Belgium

- To understand the indications and the goals of the main education methods for non-verbal and ASD patients

- To know the key points of the anamnesis, the clinical exam and the neurophysiological investigations for patients with ID/ASD. To be aware of the early signs of ID/ASD.

- To understand the genetic investigations strategies in ID/ASD. To understand the benefits and limits of genetic screening in ID/ASD, and the implications in genetic counselling (risk factor, polygenic disease,...).

- To be aware of some research and therapeutic perspectives in ID and ASD

Background knowledge required :

- Normal steps of psychomotor and language development

- Normal brain anatomy

- Genetic testing methods (standard karyotype, molecular karyotype, fragile-X testing, gene-panel testing, WES, WGS, methylation studies,...)

- « 100 classical syndromes »

Program

9h30-9h35 : Introduction Isabelle Maystadt, Clinical Geneticist, IPG 

9h35-10h20 : Definitions of ID, ASD, psychosis, schizophrenia,... - Classification of the DSM-5 Annick Vogels, child psychiatrist, KUL (Slides)

10h25-11h10 : Neurosciences models for ID /ASD (neuronal circuits,...) Nicolas Deconinck, neurologist, ULB (Slides)

11h10-11h30 : Break

11h30-12h15: Early signs of ID/ASD and early diagnosis Pierre Defresne, neuropaediatrician, SUSA reference centre for autism, Mons (Slides)

12h15-12h45: Education methods for ASD patients (ABA, TEACCH, ...) Marie-Hélène Bouchez, psychologue et orthopédagogue, SUSA reference centre for autism, Mons (Slides)

12h45-13h30 : LUNCH BREAK

13h30-13h50: the Wechsler IQ test Isabelle Maystadt, Clinical Geneticist, IPG (Slides)

13h55-14h45 : Genetic screening and counselling in ID/ASD/psychiatric diseases : benefits and limits Hilde Peeters, KUL (Slides)

14h45-15h15 : X-linked ID in females Stephanie Moortgat, clinical geneticist, IPG (Slides)

15h15-15h45 : break

15h45-16h45: Clinical, molecular and research processes in ASD/ID/Psychiatric genetics (Slides)+ QUIZZ (ID and macrosomy/macrocephaly ) Isabelle Maystadt, Clinical Geneticist, IPG, (Slides)

Programme MaNaMa Day 7a/b

Facial Clefts/Craniosynostosis

16/03/2024 and 17/09/2024

At VUB campus Jette, Laerbeeklaan 103, 1090 Jette

Room: Auditorim 4, Building A

It should be noted that this year we will only provide drinks (coffee/tea, water (still and sparkling) during the breaks. Sandwiches will no longer be provided.

Program

9.00 -10.30 Cleft lip/palate - Nicole Revencu (+ cases) Slides

10.30 -10.45: break

10.45- 12.15: Limb defects - Bojan Dimitrov (+ cases) Slides

12.15- 13.00 Lunch

Afternoon session 13.00- 17.00

13.00 - 14.00 Craniosynostosis: types, diagnosis and treatment - Mania De Praeter 

The rest of the afternoon sessions on skeletal dysplasias are postponed to September 17^th. (Due to unforeseen circumstances Geert Mortier will not be able to present on April 16^th.) 

We would like to ask the different centers to prepare this meeting:

1. a short case in the dysmorphology meeting format (3-5 minutes, including room for discussion):

For cleft lip/ palate

- VUB: 2 cases

- Liege: 2 cases

- UCL: 1 case

- ULB: 1 case

For limb defects

- Antwerp: 1 case

- Leuven: 2 cases

- Ghent: 2 cases

- IPG: 1 case

2. Prepare one slide with the current genetic approach for patients with cleft in your center

Programme MaNaMa Day 8

14/05/2024

09.00-09.30Introduction- Kathelijn Keymolen (VUB, UZ Brussel)

09.30-10.30 Detection of chromosomal anomalies during pregnancy - Nathalie Brison/ Kris Van den Bogaert (KUL, UZ Gasthuisberg)

• NIPT

• Rapid aneuploidy screening

• Array CGH

10.30-11.00 Detection of monogenic anomalies during pregnancy 

- Kathelijn Keymolen (VUB, UZ Brussel)

• Targeted gene analysis

• Gene panel analysis

11.00-11.15 Break

11.15-12.30 Cases presented by the audience (5)- moderator Kim van Berkel (VUB, UZ Brussel)

12.30-13.30 Break

13.30-15.30 Pregnancy - Xin Kang (ULB, CHU Brugmann)

• Biochemical diagnosis

• Ultrasound diagnosis: § normal ultrasound

         § anomalies (soft markers, major anomalies, isolated, multiple anomalies)

         § occurrence

         § significance

         § timing

15.30-16.00 Psychological follow-up of high-risk pregnancies / termination of pregnancy - Julie Nekkebroeck (VUB, UZ Brussel)

16.00-16.30The role of the genetic counselor in prenatal diagnosis - Ileen Slegers (VUB, UZ Brussel)

16.30-17.15 Cases presented by the audience (3)-moderator Boyan Dimitrov (VUB, UZ Brussel)