Programme NVHG 2024

Thursday September 19, 2024

Morning session 1 (9:30-10:30)

Welcome - Prof. dr. Mieke van Haelst

A Historical view of Dutch hman genetics

o   The Dutch Society of Human Genetics (NVHG) and the Simonsfonds Foundation: a shared past and a shared future - Prof. dr. J.K. (Hans Kristian) Ploos van Amstel

o   The discovery of the Fragile X Syndrome gene – Dr. J. M. H. (Annemieke) Verkerk

Coffee break (10:30-11:00)

Morning Session 2 (11:00-12:30)

Plenary Session 2: From the past to the future: the human genome in health and disease

o   Genetic research among descendants of enslaved individuals – Dr. A.F. (Arwin) Ralf

o   The European Rare Disease Research Alliance – Prof. dr. L.E.M.L. (Lisenka) Vissers

o   The Genome of Europe: A Reference Database of Genomes as part of the 1 Million Genomes initiative (1+MG) – Prof .dr. A.G. (André) Uitterlinden

o   Empowering citizens for responsible use of direct to consumer genetic testing: The ERUDIGIT project - Dr. T. (Tessel) Rigter

o   Polygenic risk scores for breast cancer: evidence and next steps? – Prof.dr.ir. M.K (Marjanka) Schmidt

o   The heritable cardiac disorders: when genetic burden reaches threshold – Prof.dr. C.R. (Connie) Bezzina

Lunch and poster session 1 (12:30-14:00)

VKGN general assembly meeting (13:15-14:00)

VKGL general assembly meeting (13:15-14:00)

Afternoon Session 1 (13:45-15:00)

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing. Anouk Janssen, Winner of the best presentation award at the 30th Rolduc Genetics Retreat 2023 (14:00-14:15)

Galjaard Lecture (14:15 - 15.00)
TWINS and TWINNING, Prof. dr. Dorret Boomsma


Coffee break (15:00-15:30)

Parallel session 1A (15:30 - 16:30)
Macrosatellite Repeats and DUX4 Evolution: A Comparative Study Across 50 Vertebrates Species - Silvère van der Maarel (Leiden)

Autosomal recessive loss-of-function variants in POC5 cause a syndrome with retinitis pigmentosa and lipodystrophy and impair ciliary function - Machteld Oud (Nijmegen)

Genetic Nurture: Estimating the direct genetic effects of pediatric anthropometric traits - Carolina Medina-Gomez (Rotterdam)

Linking non-coding variation to enhancer activity and gene expression in personal Genomes through haplotyping, genomics, and deep learning - Mikhail Magnitoc (Amsterdam)

Parallel session 1B (15:30 - 16:30)
The clinical utility of liquid biopsy next-generation sequencing in routine diagnostic care for advanced non-small cell lung cancer in the Netherlands - Tessa de Bitter (Nijmegen)

Methylome-based clustering analysis of Wilms tumors to identify predisposition gene- driven subtypes - Franziska Oberhammer (Utrecht)

Synthetic Mismatches Enable Specific CRISPR-Cas12a-based Detection of Genome-Wide SNVs Tracked by ARTEMIS - Kavish Kohabir (Amsterdam)

The role of heterozygous germline pathogenic variants in adult cancer predisposing genes in pediatric cancer - Lianne Suurenbroek (Utrecht)

Parallel session 2A (16.40 - 17.40)
Unraveling undiagnosed rare disease families by HiFi long-read genome sequencing - Lydia Sagath (Nijmegen)

Innovation in genetic diagnostic testing for male infertility: validation and 10-month experience of an all-in-one exome sequencing strategy validation - Manon Oud (Nijmegen)

Residual risks for a fetal chromosome aberration when cell free DNA prenatal screening is normal: a retrospective study - Adriana Iglesias (Rotterdam)

Solving the unsolved of inherited metabolic disorders by genome sequencing - Robin Wijngaard (Nijmegen)

Parallel session 2B (16.40 - 17.40)
Clinically actionable hereditary diseases: facilitating early detection of at-risk relatives - Imke Christiaans (Groningen)

Large Language Models to Enhance Reproductive Genetic Literacy - Marjan Naghdi (Maastricht)

Understanding the role of genetic cardio-metabolic risk factors in longevity and healthy aging - Niels van den Berg (Leiden)

The role of somatic mutations in the pathogenesis of inflammatory bowel disease - Floris Imhann (Groningen)

Plenary session 4 (17:50-19:00)

Genetic Risk Scores during life

In this informal session we aim to discuss the true value of genetic risk scores, and go beyond a technical evaluation of the models that currently exist. We will continue from the observation from the first edition of HUGE-NL - genetic risk scores are not a diagnostic tool, but an aid when making health decisions. We will use polls, metaphors, case studies and debate to detach from the narrow focus on diseases and instead, explore the broader implications of risk scores in various life stages. We will debate the conditions and prerequisites necessary for each metaphor to hold true in the realm of genetic risk scores.

Participants:
Prof. dr. L. (Lidewij) Henneman (Amsterdam)
Dr. I.M.M. (Inge) Lakeman (Leiden)
Drs. A. (Aard) Verdaasdonk (Landelijke Huisartsen Vereniging)

Social evening program: (19.30 - 0.00, in Café De Tropen)

19:00 Pre-dinner drinks
19:30 Dinner
21:00 Network event

Friday September 20, 2024

Morning Session 1 (8:30-10:45)

WES & beyond: when to stop looking? (Joint VKGL/VKGN session)
Speakers:

o  Episignatures as a diagnostic tool – Dr. M. (Mariëlle) Alders

o  Interpreting the undiagnosed genome from RNA – Dr. T.J. (Tjakko) van Ham

o   Finally finding the causative variant with XON array or WGS – Dr. N. (Nicole) de Leeuw

Panel discussion: The three speakers will be joined by several colleagues from different fields: Sjoerd Repping, Fabienne Ropers, Noor Giesbertz, Vivian Vernimmen and Lisette Leeuwen.

Coffee break (10:45-11:15)

Morning session 2 (11:15-12:40)

Technological innovations

o   The impact of technology; a historical perspective – Prof. dr. J.T. (Johan) den Dunnen

o   Finding causes of missing heritability in neurogenetic disorders: exploring the dark matter of the genome – Dr. T.S. (Stefan) Barakat

o   Deciphering regulatory syntax and genetic variation with deep learning models –  Dr. A. (Anshul) Kundaje

Lunch and poster session (12:40-14:00):
NVHG General assembly Meeting (12:40)

Keynote lecture (14:10-15:00)

o   The telomere-to-telomere (T2T) genomes and complex variation – Prof. dr. E.E. (Evan) Eichler

Plenary Session 7 (15:00-16:15)

Gene Therapy: Opportunities and Challenges

o   In vivo gene editing of Hereditary Angioedema – Dr. D.M. (Danny) Cohn

o   Stem cell based gene therapy for Recombinase deficient-SCID and hypomorphic RAG disease – Prof. dr. F.J.T. (Frank) Staal

o   Gene therapy for neurometabolic disorders - Prof. dr. C.D.M. (Clara) van Karnebeek

Ceremonial session (16.15-16.30h)

Award for best poster
Annual Award for best oral presentation
Young Investigator Award 2023 (for best thesis)