NVHG 2025

General information:
 

As every year, the NVHG organizes a conference for all Dutch geneticists to connect, share knowledge, collaborate, and network. The NVHG aims to provide the latest genetics and genomics advancements, from basic to translational research from within and outside of the Netherlands.

How to navigate huge amounts of data in clinical decision making

The focus of our 2025 meeting is how we can leverage the enormous amounts of data from both patients and healthy individuals to enhance clinical decision-making and ultimately improve patient care.

Key topics will include:

·         Challenges in harmonizing variant calling and annotation

·         Interpretation complexities due to genetic background differences

·         Identifying and understanding mosaic variants

·         Translating genomic insights into actionable precision medicine

In addition, the Sandkuyl Award, the Best Abstract from the Rolduc Meeting, and the Young Investigator Award will be presented to recognize outstanding contributions in the field.

Programme NVHG 2025:

Monday 15 September 2025:

09:00                 Registration

09:45-10:00      Welcome – Prof.dr. Lude Franke, chairman NVHG
Plenary room Athene C

10:00-12:00      Plenary session 1: Translational Genetics
Plenary room Athene C

10:00                  Keynote Speaker: Prof.dr. Hans Clevers (Hubrecht Institute)
‘Organoids, genetics and personalized therapy’

10:45                  Invited speaker: Prof.dr. Matthijs Verhage (Amsterdam UMC)
‘Disease mechanisms and intervention strategies for SNAREopathies, syndromes caused by mutations in presynaptic genes’

11:30                  Q&A session

12:00-13:30      Lunch break
Foyer

12:00-12:30      VKGL General Assembly – members only
Plenary room Athene C

13:30-14:30      Plenary session 2: Variant interpretation
Plenary room Athene C

13:30                  Keynote speaker: Dr. Ivo Gut (CNAG, Barcelona)
‘Why would you go on a journey without a map?’

14:00                  Invited speaker: Dr. Saskia Lesnik Oberstein (LUMC)
‘NOTCH3 genotypes and phenotypes in patients and population: the key to stroke and dementia risk and global disease burden’

14:30-14:45      Poster Blitz: (1min/presenter)
Plenary room Athene C

·        Vivian Vernimmen (MUMC+)
‘Preimplantation genetic testing for neurofibromatosis type 1: challenges and pitfalls’

·        Ana Marques (Erasmus MC)
‘Using the extremes in MS susceptibility to expose the functionally altered B and T cell in people with optic neuritis’

·        Sofie van Uden (Radboudumc)
‘The diagnostic yield of a 343-gene panel-based cancer predisposition analysis in adolescents and young adults with a solid malignant tumour’

·        Lonneke Haer-Wigman (Radboudumc)
‘Implementation of a polygenic risk score in diagnostic genetic testing for age-related macular degeneration’

·        Jan Jongbloed (UMCG)
‘Combining bio-informatic tools to facilitate implementation of non-coding variant analysis in genome diagnostics’

·        Josephine van Asbeck (LUMC)
‘There is more to NOTCH3 than CADASIL: differential effects on NOTCH3 signaling underlie the diverse phenotypes associated with truncating NOTCH3 variants’

·        Iris de Lange (LUMC)
‘Hidden in the introns: LINE-1 Insertion Leads to RARS2-deficiency’

14:45-15:00      Break/switch rooms

15:00-16:15      Parallel session 1a: Selected abstracts
Plenary room Athene C

15:00       Pauline Lanting (UMCG)
‘Low-cost clinical grade pharmacogenetic passports using oligonucleotide arrays, experiences of 1,227 biobank participants’

15:15        Mark Drost (Erasmus MC)
‘Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making’

15:30        Omar A.Z. Tutakhel (Amsterdam UMC)
‘ESRRG: A newly identified dominant gene in non-progressive congenital movement disorder with ataxia’

15:45        Mirjam de Pagter (UMC Utrecht)
‘A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling’

16:00        Ruxandra Nagy (MUMC+)
‘Preimplantation Genetic Testing (PGT) for Multiple Indications in Consanguineous Couples after Expanded Preconception Carrier Testing’

15:00-16:15      Parallel session 1b: Selected abstracts
Parallel room 6/7

15:00       Wolfram Höps (Radboudumc)
‘Clinical long-read genome sequencing for rare disease diagnostics’

15:15        Ashleigh Jimenez Lemus (MUMC+)
‘High prevalence of cutaneous postzygotic mosaicism of Patched 1 variants in patients developing multiple basal cell carcinomas’

15:30        Harm-Jan Westra (UMCG)
‘Single-nucleus eQTLs identified in 1,004 brain samples are far more cell-type specific than previously recognized from tissue studies’

15:45        Eva Niggl (Erasmus MC)
‘Targeting Rheb with antisense oligonucleotides ameliorates epilepsy associated phenotypes in two Tuberous Sclerosis Complex mouse models and human iPSC-derived neurons’

16:00        Muhau Mungamba (Amsterdam UMC)
‘DNA methylation associated with incident chronic kidney disease among African migrants and non-migrants: The longitudinal Pros-RODAM Cohort Study.’

16:30-18:00      Break and poster viewing with presenters (posters P01 – P14)
Foyer & Poster room Athene B

16:45-17:30      Sponsor pitches
Parallel room 6/7

16:45       Volta Labs - Callisto: Powering NGS Sample Prep for Clinical Genomics

17:00        Geneyx - Solving unsolved cases with Geneyx: a case study at Erasmus MC

17:15         Varvis - Integrating long-read whole genome sequencing and AI for smarter clinical genomics

18:00-19:00      Keynote speaker: Dr. Christopher Mason
‘A 500-year plan for Space Genetics’
Plenary room Athene C

19:00-20:30      Drinks & dinner
Athene A

20:30-21:15      Twice the DNA, twice the Olympic glory!
Emile Schelvis talks with famous twins that won Olympic medals
(this session will be held in Dutch, with English subtitling provided)
Plenary room Athene C

21:15-00.00      Party
Athene A

Tuesday 16 September 2025:

08:00                  Registration

08:30-10:00      Plenary session 3: Mosaicism
Plenary room Athene C

08:30                  Keynote speaker: Prof. dr. Eric Legius (KU Leuven)
‘Mosaicism in Clinical Genetics’

09:10                   Invited speaker: Dr. Maartje Nielsen (LUMC)
‘Prevalence and consequences of APC mosaicism in patients with colorectal adenomas’

09:35                  Invited speaker: Dr. Richarda de Voer (Radboudumc)
‘Beyond the germline: mosaic pathogenic variants in individuals suspected of hereditary cancer’

10:00-10:30      Coffee break
Foyer

10:30-12:00      Parallel session 2a: Selected abstracts
Plenary room Athene C

10:30        Esmé Waanders (UMC Utrecht)
‘NMNAT3 Deficiency: A novel inborn error of metabolism causing hereditary hemolytic anemia’

10:45        Cleophee Bruchou (MUMC+)
‘Decoding the cardiac non-coding genome in idiopathic arrhythmogenic cardiomyopathy’

11:00        Krista van Dijk (UMCG)
‘Whole-gene variant analysis to increase diagnostic yield in suspected familial cancer cases’

11:15        Robert Warmerdam (UMCG)
‘Unravelling molecular mechanisms of complex disease through a genome-wide trans-eQTL meta-analysis in 43,301 individuals’

11:30        Robin Wijngaard (Radboudumc)
‘Monoallelic POLR3A variants cause a Pol III-related disorder characterized by peripheral neuropathy’

11:45        Carolina Medina Gomez (Erasmus MC)
‘Shared genetic architecture between skull BMD levels and craniofacial malformations’

10:30-12:00      Parallel session 2b: Selected abstracts
Parallel room 6/7

10:30        Tim Niemeijer (UMCG)
‘Cautionary tale when interpreting WGS results: mobile element insertion in FUCA1 instead of suspected deletion or translocation’

10:45        Bart van der Sanden (Radboudumc)
‘Comprehensive de novo mutation assessment in 100 undiagnosed neurodevelopmental disorder patient-parent trios with HiFi genome sequencing’

11:00        Emilio Harris-Mostert (Erasmus MC)
‘Development of Personalized Antisense Oligonucleotide Therapy for a Rare Monogenic Neurodevelopmental Disorder’

11:15        Richard van Jaarsveld (UMC Utrecht)
‘Gene Activation Strategies to Unlock the Diagnostic Potential of RNA-Seq for Any Gene of Interest’

11:30        Tigist Demssew Adane (Erasmus MC)
‘Trait-Based polygenic risk score partitioning reveals shared and disease specific genetic risk across common cardiovascular diseases’

11:45        Lotte Pape (UMCG)
‘Identification of key genes that drive 10 immune-mediated diseases using directed gene regulatory networks and trans-eQTLs in 43,301 individuals’

12:00-13:15      Lunch break and poster viewing with presenters (posters P15 – P27)
Foyer & Poster room Athene B

12:00-12:30      NVHG General Assembly – members only
Parallel room 6/7

13:15-15:10      Plenary session 4: Future-proof Education in Genetics (NACGG/VKGN/VKGL joint session)
Plenary room Athene C

• Anne de la Croix (Amsterdam UMC)

• Sam Riedijk (Erasmus MC)

• Petra Zwijnenburg (Amsterdam UMC)

• Marlo Kengen (Hogeschool van Arnhem & Nijmegen)

15:10-15:25      Coffee break
Foyer

15:25-16:15      NVHG Awards
Plenary room Athene C

·        NVHG Sandkuyl lecture 2025: Prof.dr. Mark van de Wiel (Amsterdam UMC) ‘Connecting genes to disease: Statistics as a blessing, not a curse’

·        Rolduc winner: Dr. Mio Aerden (KU Leuven)
‘cfDNA profiling in health uncovers signatures of cell type and demographic origin’

·        Young Investigator Award 2025

·        Announcement best presentation and poster awards

16:15                  Closure