Program
General theme: “Next Generation Genetics”
2022-02-17 (Changes reserved)
Timeslots are in CET.
07 March 2022
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
08 March 2022
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
08 March 2022
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
09 March 2022
Dysmorphology Club
Cancer Genetics case day
Joint Meeting 2022
Registration website for Joint Meeting 2022Margot van der Mark / Conference secretarymargot@routine-nijmegen.nl
Margot van der Mark / Conference secretarymargot@routine-nijmegen.nlhttps://www.aanmelder.nl/jointmeeting
2022-03-07
2022-03-09
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Joint Meeting 2022Joint Meeting 20220.00EUROnlineOnly2019-01-01T00:00:00Z
De DoelenDe DoelenKruisplein 40 3012CC Rotterdam Netherlands