General theme: “Next Generation Genetics”

2022-02-17 (Changes reserved)

Timeslots are in CET.

07 March 2022

09:00 - 17:00

Joint Program

09:00

Registration & Coffee

09:30 - 10:30

Opening session

09:30

Opening address

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

09:40

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

Prof. Ype Elgersma, Erasmus Medical Center Rotterdam

10:00

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 

10:30 - 11:00

Break

11:00 - 12:45

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

11:00

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

Dr. Richard Scott, Genomics England

11:30 - 12:45

Submitted abstracts (1-5)

11:30

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

Ruizhi Deng, Erasmus MC Rotterdam

11:45

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

12:00

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

12:15

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

Dr. Andrew Douglas, University of Southampton

12:30

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

12:45 - 14:00

Lunch & Poster viewing

12:50 - 13:20

CGS Annual General Meeting

14:00 - 15:30

Theme 2: Treatment and Therapy

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

14:00

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 

14:30 - 15:30

Submitted abstracts (6-9)

14:30

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

14:45

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

15:00

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

15:15

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

Dr. James Fasham, University of Exeter

15:30 - 16:00

Break

16:00 - 17:00

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

17:00 - 17:30

Virtual reception

08 March 2022

08:30 - 15:30

Parallel Program Clinical genetics

08:30

Registration & Coffee

09:00 - 10:30

Theme 3: Neurogenetics and Intellectual Disability

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

09:00

Invited speaker - ALS, that's not genetic

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

09:30 - 10:45

Submitted abstracts (10-14)

09:30

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

Eva Niggl, Erasmus MC Rotterdam

09:45

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

Eleana Rraku, UMC Groningen

10:00

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

Margot Reijnders, Maastricht UMC+

10:15

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

Julie Rutten, LUMC Leiden

10:30

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

10:45 - 11:15

Break

11:15 - 12:45

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

Chairs:
Dr. Phillis Lakeman, Amsterdam University Medical Center

Dr. Diana Wellesley, Wessex Clinical Genetics Service

11:15

Invited speaker - The landscape of preconception expanded carrier screening

Prof. Lidewij Henneman, Amsterdam University MC 

11:45 - 12:45

Submitted abstracts (15-18)

11:45

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

MD PhD Tessa van Dijk, LUMC Leiden

12:00

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

12:15

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

Dr. Phil Ostrowski, Great Ormond Street Hospital

12:30

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

12:45 - 14:00

Lunch & Poster viewing

14:00 - 15:15

Theme 5: Cardiovascular and general genetics

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

14:00

Invited speaker - Cardiogenetics: is it all that bad?

Prof. Peter van Tintelen, University Medical Center Utrecht 

14:30 - 15:30

Submitted abstracts (19-22)

14:30

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

Lisa van den Bersselaar, Erasmus MC Rotterdam

14:45

20. Disentangling genetic risks for metabolic syndrome

Eva van Walree, Amsterdam UMC

15:00

21. NEK8 variants cause autosomal-dominant ciliopathy

MD Laura Claus, UMC Utrecht

15:15 - 15:30

Time to switch rooms

15:30 - 16:30

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 

15:30

Ben ter Haar Prize & Lecture

16:00

Award ceremonies:

Dutch and UK presentations SpR & Robin Winter Prize

Results of the jury

Poster prize

Results of the public vote

16:30

Conference closure

16:40

End of the conference

08 March 2022

08:30 - 15:30

Parallel Program Cancer genetics

08:30

Registration & Coffee

09:00 - 10:30

Theme 6: Implementation of PRS in the Clinic

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

09:00

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

Prof. Marjanka Schmidt, NKI Amsterdam

09:30

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

Dr. Amit Sud, Institute of Cancer Research London

10:00 - 10:30

Submitted abstracts (23-24)

10:00

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

Inge Lakeman, LUMC Leiden

10:15

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

Antoinette Hollestelle, Erasmus MC Rotterdam

10:30 - 11:00

Break

11:00 - 12:30

Theme 7: Cancer Gene Variant Interpretation

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

11:00

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

11:30

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 

12:00 - 12:30

Submitted abstracts (25-26)

12:00

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

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

12:15

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

12:30 - 13:45

Lunch & Poster viewing

13:45 - 15:15

Theme 8: Cancer Genetics, General

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

13:45 - 15:15

Submitted abstracts (27-32)

13:45

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

14:00

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

14:15

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

Bethany Torr, Institute of Cancer Research London

14:30

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

14:45

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

Meggie Drissen, Radboudumc Nijmegen

15:00

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

Linda Hendricks, Radboudumc Nijmegen

15:15 - 15:30

Time to switch rooms

15:30 - 16:30

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 

15:30

Ben ter Haar Prize & Lecture

16:00

Award ceremonies:

Dutch and UK presentations SpR & Robin Winter Prize

Results of the jury

Poster prize

Results of the public vote

16:30

Conference closure

16:40

End of the conference

09 March 2022

09:00 - 16:00

Dysmorphology Club

09:30 - 13:00

Cancer Genetics case day

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