Joint Program

Registration & Coffee

Opening session

Opening address

Prof. Wendy van Zelst-Stams, chairman of the Dutch Society of Clinical Genetics

Kick off presentation - From genetic defects to genetic therapies in neurodevelopmental disorders?

Prof. Ype Elgersma, Erasmus Medical Center Rotterdam

Martijn Breuning Lecture - Human genetics in times of a pandemic: TLR7 deficiency in men with severe COVID-19

Dr. Alexander Hoischen, Radboud University Medical Center 

Break

Theme 1: New Diagnostic Possibilities in the Field of Genetics

Chairs:
Dr. Stefan Barakat, Erasmus Medical Center Rotterdam 
Prof. Siddharth Banka, Manchester Centre for Genomic Medicine

Invited speaker - Whole genome sequencing – the benefits of linking healthcare delivery and research

Dr. Richard Scott, Genomics England

Submitted abstracts (1-5)

1. Functional enhancers with medical relevance identified by ChIP-STARR-seq in neural stem cells

Ruizhi Deng, Erasmus MC Rotterdam

2. Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance: identifying targets of missing heritability for future diagnostics in neurogenetic disorders

Soheil Yousefi, Erasmus MC Rotterdam

3. Microsatellite instability analysis to detect constitutional mismatch repair deficiency using novel markers that are unstable in non-neoplastic blood

Dr. Richard Gallon, Newcastle University

4. Splicing analysis of blood RNA-seq (SABR) in genetic diagnostics

Dr. Andrew Douglas, University of Southampton

5. DECIPHER – enabling the sharing and interpretation of rare disease variants and associated clinical phenotypes for diagnosis and discovery

Dr. Julia Foreman, Wellcome Sanger Institute

Lunch & Poster viewing

CGS Annual General Meeting

Theme 2: Treatment and Therapy

Chairs:
Dr. Charlotte Ockeloen, Radboud University Medical Center 
Prof Bill Newman, Manchester Centre for Genomic Medicine 

Invited speaker - DNA repair and its impact on cancer and aging. How rare disorders are key to understanding common diseases

Prof. Jan Hoeijmakers, Erasmus Medical Center Rotterdam 

Submitted abstracts (6-9)

6. Clinical, Genetic and Molecular Delineation of KPTN-related Disorder in Humans and Mice Identifies mTOR Inhibition as a Candidate Therapeutic Approach

Dr. Lettie Rawlins, University of Exeter

7. First results of the PROMPT-trial: Routine Tumour DNA testing in patients with early castration resistant prostate cancer to advise patients for genetically matched therapy and pre-screen patients for germline testing

MD PhD Iris Kloots, Radboudumc Nijmegen

8. Barriers and facilitators to using aspirin for preventive therapy: a qualitative study exploring the views and experiences of people with Lynch syndrome and healthcare providers

Kelly Lloyd, University of Leeds

9. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Dr. James Fasham, University of Exeter

Break

The Carter Lecture

Chair:
Prof. Sarah Smithson, President of the UK Clinical Genetics Society 

Evolution of the Phenotyper
Prof. Jill Clayton-Smith, Manchester Centre for Genomic Medicine

Virtual reception

Parallel Program Clinical genetics

Registration & Coffee

Theme 3: Neurogenetics and Intellectual Disability

Chairs:
Dr. Grazia Mancini, Erasmus Medical Center Rotterdam 
Dr. Frances Elmslie, St George’s University Hospitals

Invited speaker - ALS, that's not genetic

Prof. Christopher Shaw, ALS, Neurology & Neurogenetics, King’s College London

Submitted abstracts (10-14)

10. De novo variants in heterogeneous nuclear ribonucleoprotein C (hnRNPC) are associated with a novel neurodevelopmental disorder

Eva Niggl, Erasmus MC Rotterdam

11. The phenotypic spectrum of terminal  and subterminal 6p deletions based on a social media-derived cohort and literature review

Eleana Rraku, UMC Groningen

12. UK/Dutch joint efforts: results of a large-scale study on 5q31.2q31.3 copy number variations including PURA

Margot Reijnders, Maastricht UMC+

13. Differential effects on NOTCH3 signaling underlie the diverse phenotypic expression of truncating NOTCH3 variants

Julie Rutten, LUMC Leiden

14. Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: An emerging neurodevelopmental phenotype

Vardha Ismail, Wessex Regional Genetics Centre

Break

Theme 4: Prenatal Genetics / Preconception Genetics / Community Genetics / Ethics

Chairs:
Dr. Phillis Lakeman, Amsterdam University Medical Center
Dr. Diana Wellesley, Wessex Clinical Genetics Service

Invited speaker - The landscape of preconception expanded carrier screening

Prof. Lidewij Henneman, Amsterdam University MC 

Submitted abstracts (15-18)

15. Neonatal Bloodspot Screening: Parents’ and Professionals’ Views about (non-)Participation and Expansion

MD PhD Tessa van Dijk, LUMC Leiden

16. Development of a Digital Risk Prediction Tool based on Family History for the General Population: Ethical and Legal Challenges

MD PhD Imke Christiaans, UMC Groningen

17. The impact of trio analysis in clinical whole-genome sequencing for paediatric disorders and intellectual disability

Dr. Phil Ostrowski, Great Ormond Street Hospital

18. Timely and ethical access to genetic investigations on the neonatal unit: a collaboration between clinical genetics and neonatal teams

Melody Redman, Yorkshire Regional Genetics Service

Lunch & Poster viewing

Theme 5: Cardiovascular and general genetics

Chairs:
Dr. Paul van der Zwaag, University Medical Center Groningen
Prof. Ruth Newbury-Ecob, University Hospitals Bristol  

Invited speaker - Cardiogenetics: is it all that bad?

Prof. Peter van Tintelen, University Medical Center Utrecht 

Submitted abstracts (19-22)

19. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Lisa van den Bersselaar, Erasmus MC Rotterdam

20. Disentangling genetic risks for metabolic syndrome

Eva van Walree, Amsterdam UMC

21. NEK8 variants cause autosomal-dominant ciliopathy

MD Laura Claus, UMC Utrecht

Time to switch rooms

Joint closure & Award ceremony

Chairs:
Prof. Wendy van Zelst-Stams,  chairman of the Dutch Society of Clinical Genetics 
Prof. Sarah Smithson, President of the UK Clinical Genetics Society 

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

End of the conference

Parallel Program Cancer genetics

Registration & Coffee

Theme 6: Implementation of PRS in the Clinic

Chairs:
Prof. Marc Tischkowitz, University of Cambridge
Dr. Jeroen van Rooij, Erasmus Medical Center Rotterdam

Invited speaker - Breast cancer risk stratification: first and second time around

Prof. Marjanka Schmidt, NKI Amsterdam

Invited speaker - What role do polygenic risk scores for cancer have in the clinical setting?

Dr. Amit Sud, Institute of Cancer Research London

Submitted abstracts (23-24)

23. Comprehensive breast cancer risk prediction for women from non-BRCA1/2 breast cancer families – an observational pilot study

Inge Lakeman, LUMC Leiden

24. Genomic landscape of CHEK2 c.1100delC-driven breast cancer

Antoinette Hollestelle, Erasmus MC Rotterdam

Break

Theme 7: Cancer Gene Variant Interpretation

Chairs:
Dr. Katie Snape, St George’s University Hospitals 
Prof. Rolf Sijmons, University Medical Center Groningen

Invited speaker - Improving accuracy and consistency of variant interpretation for cancer susceptibility genes through the CanVIG-UK network

Prof. Clare Turnbull, Institute of Cancer Research London & Miranda Durkie, Sheffield Children's NHS Trust

Invited speaker - Cancer Risk Assessment through Functional Testing of variants in BRCA1, BRCA2 and PALB2; the Dutch CRAFT Consortium

Dr. Maaike Vreeswijk, Leiden University Medical Center 

Submitted abstracts (25-26)

25. Assessing the Pathogenicity of Mismatch Repair Variants with Whole Exome Sequencing – Preliminary Results

MD Anne-Sophie van der Werf - 't Lam, LUMC Leiden

26. Somatic BRCA1/2 testing in non-mucinous epithelial ovarian cancer: no need for germline testing in non-familial cases aged 70 years and over

Prof. D. Gareth R. Evans, University of Manchester

Lunch & Poster viewing

Theme 8: Cancer Genetics, General

Chairs:
Dr. Helen Hanson, St George’s University Hospitals
Dr. Marleen Kets, Radboud University Medical Center

Submitted abstracts (27-32)

27. Prevalence of (epi)genetic predisposing factors in a 5-year unselected national Wilms tumor cohort: a comprehensive clinical and genomic characterization

MD Janna Hol, Princess Máxima Center for Pediatric Oncology, Utrecht

28. Investigation and diagnosis of hereditary cancer predisposition in a cohort of adolescents and young adults with sarcomas and Gastro-intestinal stromal tumours managed in a specialist centre between 1990 and 2020

Dr. Elena Cojocaru, The Royal Marsden Hospital, London

29. A digital pathway for genetic testing in UK NHS cancer patients: BRCA-DIRECT pilot study

Bethany Torr, Institute of Cancer Research London

30. APC mosaicism is a relevant explanation in (mild) polyposis phenotypes and testing reveals interesting cases such as >1 mosaic cases in a family

Diantha Terlouw, LUMC Leiden

31. Detection yield of annual thyroid cancer surveillance in adults with PTEN Hamartoma Tumour Syndrome

Meggie Drissen, Radboudumc Nijmegen

32. Towards more accurate age-related cancer risks in PTEN Hamartoma Tumour Syndrome – a European cohort study

Linda Hendricks, Radboudumc Nijmegen

Time to switch rooms

Joint closure & Award ceremony

Chairs:
Prof. Wendy van Zelst-Stams,  chairman of the Dutch Society of Clinical Genetics 
Prof. Sarah Smithson, President of the UK Clinical Genetics Society 

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

End of the conference

Dysmorphology Club

Cancer Genetics case day