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Program (Changes reserved, last update 9 March 2018)

General theme: “Future proof clinical genetics”

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Day 1: Monday 12 March – Joint program

09:00

Registration and coffee

09:30

Opening address

Dr Frederik Hes, chairman of the Dutch society of Clinical Genetics

09:40

Kick off presentation

Professor Annelien Bredenoord, Utrecht

10:00

Informed consent and genomics - can consent do all the work?

Professor Anneke Lucassen, Southampton

10:20

Rise of the Robots and Superomics for All

Professor Rolf Sijmons, Groningen

10:40 – 11:10

BREAK

11:10 – 12:25

SYMPOSIUM: Future proof ‘testing and interpretation’

Chairs: Dr Frederik Hes, Leiden & Dr Jane Hurst, London

 

SUBMITTED ABSTRACTS

11:10

Rapid whole exome sequencing in clinical care –  when to and when not to use this diagnostic tool

Chantal Deden, Nijmegen

11:25

Rapid whole exome sequencing; implementation in the prenatal setting

Ilse Feenstra, Nijmegen

11:40

Making the most of prenatal exome sequencing: start of a national database

Gijs Santen, Leiden

11:55

Copy Number Variants (CNVs) Affecting Cancer Predisposing Genes (CPGs) Detected As Incidental Findings In Routine Germline Diagnostic Chromosomal Micro-Array (CMA) Testing

Emma Woodward, Manchester

12:10

Segregation analysis in genomic variant interpretation

Jan-Maarten Cobben, London

12:25

Genome-wide meta-analysis of insomnia (N=1,300,000) identifies novel genes and functional pathways

Philip Jansen, Amsterdam

12:40 – 14:00

LUNCH and POSTER VIEWING

13:40 – 14:00

CGS General meeting

14:00 – 15:30

SYMPOSIUM: Theme Mendelian disorders and beyond

Chairs: Dr Tjitske Kleefstra, Nijmegen & Dr Francesca Faravelli, London

 

SUBMITTED ABSTRACTS

14:00

Extracting pharmacogenetic genotypes from exome data; benefits and challenges

Marjolein Kriek, Leiden

14:15

The Role of Detailed Clinical Phenotyping in Genomic Medicine

Hannah Titheradge, Birmingham

14:30

Molecular dissection of complex germline structural variation using a multi-omics approach

Sjors Middelkamp, Utrecht

14:45

Successful use of social media in the study of rare disorders: The Chromosome 6 Project

Aafke Engwerda, Groningen

15:00

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Inge Mathijssen, Amsterdam

15:15

A couple-based approach to expanded preconception carrier screening

Juliette Schuurmans, Southampton & Groningen

15:30 – 16:00

BREAK

16:00 – 17:40

SYMPOSIUM: Syndromal Haematogenetics

Chairs: Dr Mieke van Haelst, Amsterdam & Dr Helen Hanson, London

 

INVITED SPEAKERS:

16:00

Hereditary germline mutations and developmental disorders in the haematological malignancy genes

Dr Kate Tatton Brown, London

16:20

Myelodysplasia and acute myeloid leukaemia: syndromes and susceptibilities

Professor Sahar Mansour, London

16:40

A multitude of mosaics – Carter lecture

Professor Andrew Wilkie, Oxford

17:40

DRINKS

18:30 – 22:00

CONFERENCE DINNER + PARTY


Day 2: Tuesday 13 March – Parallel Program Clinical genetics

08:30

Registration and coffee

09:00 – 10:50

SYMPOSIUM: Theme neurogenetics

Chairs: Dr Grazia Mancini, Rotterdam &  Dr Diana Baralle, Southampton

09:00

INVITED SPEAKER:

 

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Jolanda Schieving, Nijmegen

 

SUBMITTED ABSTRACTS

09:20

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

Iris de Lange, Utrecht

09:35

RANBP2 mutations lead to acute necrotizing encephalopathy type 1 – the Dutch experience

Marrit Hitzert, Groningen

09:50

Genetic and phenotypic findings in five individuals with de novo mutations in ZBTB18

Rhian Thomas, London

10:05

Genetic Epidemiology of Familial Motor Neuron Disease in the Netherlands

Charlotte de Bie, Utrecht

10:20

Exploring Genetic Predisposition to Foetal Anticonvulsant Syndromes (FACS)

Adam Jackson, Manchester

 

 

10:35 – 11:15

BREAK

11:15 – 12:35

SYMPOSIUM: Theme phenotypes

Chairs: Dr Paul van der Zwaag, Groningen & Dr Kate Tatton Brown, London

 

INVITED SPEAKER:

11:15

The DDD study - Demonstrating the value of iterative analysis of NGS data

Dr Helen Firth, Cambridge

 

SUBMITTED ABSTRACTS

11:35

The zebrafish as a model for cardiac abnormalities in Cantú Syndrome

Helen Roessler, Utrecht

11:50

Recessive ASNA1 mutations cause severe pediatric dilated cardiomyopathy and early death

Myrthe van den Born, Rotterdam

12:05

Determination of underlying genetic variations in an obese cohort of more than 1000 patients and the effect of bariatric surgery

Mellody Cooiman, Arnhem

12:20

Genetic studies of cases with Bohring Opitz and Bohring Opitz like syndrome associated with ASXl1 and KLHL7 mutations

Ruth Newbury-Ecob, Bristol

12:35 – 13:45

LUNCH and POSTER VIEWING

13:45 – 15:15

SYMPOSIUM: Theme phenotypes (continued)

Chairs: Professor Nine Knoers, Utrecht & Dr Ruth Newbury-Ecob, Bristol

 

SUBMITTED ABSTRACTS

13:45

Novel syndrome due to de novo missense mutations of CHD3 in 35 patients

Lot Snijders Blok, Nijmegen

14:00

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies

Marijn Stokman, Utrecht

14:15

KAT6A Syndrome:  International Collaboration and Patient/Family Participation Expand our Knowledge of Phenotype and Genotype

Joanna Kennedy, Bristol

14:30

Four further patients with CTNND1 mutations: new insights into the phenotype of Blepharocheilodontic syndrome?

Athina Ververi, London

14:45

ARID1B in Coffin-Siris Syndrome and Non-Syndromic Intellectual Disability

Eline van der Sluijs, Leiden

15:00

An inactivating mutation in the histone deacetylase SIRT6 causes multiple congenital anomalies and perinatal mortality

Merel van Maarle, Amsterdam

15:15 – 15:30

Time to switch rooms

15:30 – 16.30

JOINT CLOSURE & AWARD CEREMONY

 

Ben ter Haar Prize & Lecture

 

Award ceremonies:

 

Dutch and UK presentations SpR & Robin Winter Prize

Results of the jury

 

Poster prize

Results of the public vote

 

Conference closure

Dr Frederik Hes, chairman of the Dutch society of Clinical Genetics

16:30

End of the conference

Day 2: Tuesday 13 March – Parallel Program Cancer genetics

08:30

Registration and coffee

09:00 – 10:45

SYMPOSIUM: Theme Screening and prevention

Chairs: Dr Margreet Ausems, Utrecht & Dr Marc Tischkowitz, Cambridge

 

SUBMITTED ABSTRACTS

09:00

PMS2-associated Lynch syndrome: the odd one out

Sanne ten Broeke, Leiden

09:15

 

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): clinical and molecular features, and renal cancer surveillance imaging

Claire Forde, Manchester

09:30

Oral contraceptive use and breast cancer risk: retrospective and prospective analyses from a BRCA1 and BRCA2 mutation carrier cohort study

Lieske Schrijver, Amsterdam

09:45

Clinical aspects of SDHA-related pheochromocytoma and paraganglioma; a nationwide study

Frederik Hes, Leiden

10:00

Renal imaging in Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcomes

Irma van de Beek, Amsterdam

10:15

The LiFe-Guard study: Impact of surveillance with whole body MRI in a Dutch Li-Fraumeni Syndrome cohort 

Marielle Ruijs, Amsterdam

10:30

Genetic counselling and testing of over 350 young women with breast cancer for Li-Fraumeni Syndrome in the Netherlands: nationwide overview of laboratory practice and survey of genetics professionals’ experiences and attitudes

Jette Bakhuizen, Utrecht

10:45

BREAK

11:15 – 12:35

SYMPOSIUM: Theme New developments and new pathways

Chairs: Dr Maartje Nielsen, Leiden & Dr Angela Brady, London

 

INVITED SPEAKERS:

11:15

Somatic sequencing in the investigation of hereditary cancer predisposition

Dr Andrew Wallace, Manchester

11:35

Hereditary cancer predisposition and the interplay between tumor and germline testing

Professor Marjolein Ligtenberg, Nijmegen

 

SUBMITTED ABSTRACTS

11:55

A comparison of genetic testing criteria: sensitivity, clinical benefits and VUS rate

Megan Berkeley, Dublin

12:10

Transformative local pathways for cancer genomics

Katie Snape, London

12:25

Germline sequencing of advanced prostate cancer patients in the BARCODE2 trial

Sarah Benafif, London

12:40 – 13:45

LUNCH and POSTER VIEWING

13:45 – 15:15

SYMPOSIUM: Theme Further defining the phenotype of known cancer predisposition genes

Chairs: Bernadette van Nesselrooij, Utrecht & Dr Clare Turnbull, London

 

SUBMITTED ABSTRACTS

13:45

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer

Gareth D Evans, Manchester

14:00

A novel mainstreaming model for Lynch syndrome genetic testing in colorectal cancer patients

Bianca Desouza, London

14:15

Future proofing genetic counselling for cancer genetics in the genomics era

Kelly Kohut, London

14:30

Individuals with biallelic germline NTHL1 mutations are at high risk for a wide variety of cancers

Nicoline Hoogerbrugge, Nijmegen

14:45

CDC73-related disorders: clinical manifestations and case detection in primary hyperparathyroidism

Karin van der Tuin, Leiden

15:00

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in CDH1-negative diffuse gastric cancer families

Ellie Fewings, Cambridge

15:15 – 15:30

Time to switch rooms

15:30 – 16.30

JOINT CLOSURE & AWARD CEREMONY

 

Ben ter Haar Prize & Lecture

 

Award ceremonies:

 

Dutch and UK presentations SpR & Robin Winter Prize

Results of the jury

 

Poster prize

Results of the public vote

 

Conference closure

Dr Frederik Hes, chairman of the Dutch society of Clinical Genetics

16:30

End of the conference


Day 3: Wednesday 14 March – Dysmorphology meeting

Information will follow shortly