Time

Session

Room

11:00 AM – 02:00 PM

Registration

Foyer 0

12:00 PM – 01:00 PM

Lunch Symposium

01:15 PM – 02:45 PM

EDU 1

AI in the genetic dx

Audimax

First Floor

Organised by: Stephan Ossowski, Tuebingen (Germany)

AI-assisted genome diagnostics

Stephan Ossowski, Tuebingen (Germany)

Genomic language models

Pedro Tomaz da Silva, Munich (Germany)

AI-assisted disease diagnostics using facial phenotypes

Peter Krawitz, Bonn (Germany)

Broadening variant interpretation from coding to non-coding variant effects

Martin Kircher, Luebeck (Germany)

Single-cell tissue-specific gene prioritization using machine learning

Malte Spielmann, Berlin (Germany)

01:15 PM – 02:45 PM

Symposium 1

Towards a variant effect catalogue

Chair: Malte Spielmann, Berlin (Germany) &

Kerstin Ludwig, Bonn (Germany)

Hörsaal

Ground Floor

01:15 PM – 01:45 PM

Towards a Systematic Framework for Functional Annotation of Missense Variants in Parkinson’s Disease

Esther Sammler, Dundee (UK)

01:45 PM – 02:15 PM

Mapping variant effects with Saturation Genome Editing

Gregory Findlay, London (UK)

02:15 PM – 02:45 PM

Towards at Atlas of Variant Effect

Lea Starita, Seattle (USA)

01:15 PM – 02:45 PM

Symposium 2

Monogenic movement disorders

Chair: Juliane Winkelmann, Munich (Germany) &

Katja Lohmann, Luebeck (Germany)

Venus 1+2

Third Floor

01:15 PM – 01:45 PM

Genetics of hypokinetic movement disorders

Enza Maria Valente, Padua (Italy)

01:45 PM – 02:15 PM

Genetics of hyperkinetic movement disorders

Michael Zech, Munich (Germany)

02:15 PM – 02:45 PM

Comprehensive Pheno-Genotyping of Disorders caused by PSMF1 and WARS2 Variants

Francesca Magrinelli, London (UK)

03:00 PM – 04:30 PM

Poster Slam 1 - Clincal Genetics Adults and Tools

Chair: Rainer Siebert, Ulm (Germany) &

Christiane Zweier, Bern (Switzerland)

Audimax

P-56: Novel TECTA Variants Reveal Domain-Specific Pathways in Genetic Hearing Loss (A-302)

Daniel Bengl, Wuerzburg (Germany)

P-113: Episodic nystagmus as predominant phenotypic presentation: Supporting a genotype-phenotype correlation for FRMD5-related disorders) (A-257)

Suzette Block, Hamburg (Germany)

# P-179: Understanding Nicolaides-Baraitser Syndrome Beyond Childhood: Key Differences and Challenges in Adults (A-288)

Svenja Daschkey, Duesseldorf (Germany)

P-44: Genes4All the Video Game – a Serious Game as preparation for genetic counselling for neurodegenerative conditions (A-344)

Camila Gabriel, Heidelberg (Germany)

P-43: FindMe2care after two years: A platform empowering patients with genetic diagnoses (A-210)

Christian Gebhard, Munich (Germany)

P-62: Psoriasis – A monogenic disease after all? IFIH1 and its diverse phenotypes within a family (A-242)

Vanessa Geiger, Munich (Germany)

P-66: Likely pathogenic hemizygous PLS3-variant as a rare cause of X-linked congenital diaphragmatic hernia in two deceased siblings and further relatives (A-297)

Corinna Hendrich, Hannover (Germany)

P-103: Full of Spleen: Atypical Presentation of a Patient With a Heterozygous RPSA Variant (A-201)

Johanna Herwig, Hamburg (Germany)

P-50: Clinical and Molecular Characterization of Adults with Cardio-Facio-Cutaneous Syndrome (A-324)

Mert Karakaya, Duesseldorf (Germany)

# P-189: CFTR Complex Alleles in Individuals with Cystic Fibrosis Showing Limited Response to Elexacaftor/Tezacaftor/Ivacaftor (ETI) Triple Modulator Therapy (A-124)

Maike Karnstedt, Leipzig (Germany)

P-94: A novel intron variant in the COL4A5 gene potentially causing Alport syndrome identified by genome sequencing (A-254)

Isabel Kellner, Munich (Germany)

P-58: Clinical and molecular findings in patients with primary lymphedema (A-152)

Charlotte Kemper, Berlin (Germany)

P-98: Adult hypophosphatasia with ectodermal dysplasia (A-380)

Katalin Komlosi, Freiburg (Germany)

P-119: Expanding the genotypic and phenotypic spectrum of ROM1-associated macular dystrophy: evidence for a new pathogenic variant (A-268)

Patrick Krätschmer, Hamburg (Germany)

P-100: The high phenotypic variability of Marfan syndrome: Consequences for diagnosis and personalized management (A-318)

Johanna Nowitzky, Martinsried (Germany)

# P-178: Symptom Annotation Made Simple for Patients: Developing a Web-App for Symptom Documentation with the HPO in Collaboration with Rare Disease Patients (A-248)

Janina Schönberger, Berlin (Germany)

P-97: Wiedemann-Steiner syndrome: Delineation of the clinical phenotype in adults (A-370)

Friedrich Stock, Essen (Germany)

P-87: Evaluation of Stakeholder Perspectives in the German Model Project on Genomics-Based Healthcare (A-183)

Gunda Schwaninger, Innsbruck (Austria)

P-88: Evaluation of Patient Perspectives in the German Model Project on Genomics-Based Healthcare (A-185)

Kathrin Taxer, Innsbruck (Austria)

03:00 PM – 04:30 PM

Poster Slam 2 - Complex Diseases / Bioinformatics

Chair: Nataliya Di Donato, Hannover (Germany) &

Frank Tüttelmann, Muenster (Germany)

Hörsaal

Ground Floor

# P-173: umi-pipeline-nf: A modular and scalable workflow for high-accuracy UMI-tagged nanopore sequencing analysis in human genetics (A-159)

Stephan Amstler, Innsbruck (Austria)

P-129: Genome sequencing in patients with Long COVID - the „genomLC” study (A-231)

Meike Bröckelmann, Bonn (Germany)

P-16: Finding genetic factors for eQTLs: Genetic variability of lymphangiogenesis in Collaborative Cross mice (A-233)

Emily Melissa Brockmann, Erlangen (Germany)

P-14: From Genome Analysis to Patient Counseling: The Use of Large Language Models in Genetics - Their Potential, Performance, and Limitations (A-283)

Annemarie Faber, Hannover (Germany)

P-124: Genetic analyses of a susceptibility locus for psoriatic arthritis unravel a common RUNX3 missense variant affecting differentiation of CD8+ T cells (A-275)

Ulrike Hüffmeier, Erlangen (Germany)

P-15: Large Language Models for Phenotype Extraction and Variant Prioritization Using Reasoning (A-163)

Tanhim Islam, Aachen (Germany)

# P-171: Genolator: A multimodal language model integrating genomic and structural data for functional protein queries utilizing natural language (A-179)

Jeremias Krause, Aachen (Germany)

P-17: PrimerDesigner: Automating Primer Design and Validation for Efficient Variant Confirmation (A-319)

Oliver Kuechler, Berlin (Germany)

P-20: Analysis of clinically relevant large tandem repeats using nanopore sequencing (A-338)

Silvia Madritsch, Vienna (Austria)

# P-172: Evaluation Strategies in Trio Analyses within the Genomic Sequencing Pilot Project (“Modellvorhaben Genomsequenzierung”) (A-120)

Sophie Pernickel, Hannover (Germany)

P-128: Genetic variation in HLA, IGKV and HHEX loci influence mRNA vaccine-induced long-lasting humoral protection against COVID-19 (A-374)

Barbara Puzek, Neuherberg (Germany)

P-123: Host control of persistent Epstein-Barr virus infection (A-265)

Axel Schmidt, Bonn (Germany)

P-19: Evaluation of AT/GC temperature-sensitive enrichment bias in relevant diagnostics genes (A-304)

Veronika Scholz, Munich (Germany)

P-18: HPO-ira: Inter-rater agreement of HPO-based phenotyping (A-299)

Dominik Seelow, Berlin (Germany)

P-127: In-silico modeling of interactions between susceptibility genes for bipolar disorder and their effect in regulation of neurodevelopmental processes (A-309)

Priyadarshini Thirunvaukkarasu, Basel (Switzerland)

03:00 PM – 04:30 PM

Poster Slam 3 - Cancer / Basic Mechanisms

Chair: Miriam Elbracht, Aachen (Germany) &

Chrisitan Schaaf, Heidelberg (Germany)

Venus 1+2

Third Floor

P-7: Expansions in length of the polypurine∙polypyrimidine minisatellite in RPGR exon ORF15 occur at low frequency in human sperm (A-300)

Ingrid Bader, Tuebingen (Germany)

P-25: Rare TCOF1 variants impact glioma risk via changes in rDNA copy number and rRNA levels (A-121)

Frank Brand, Hannover (Germany)

P-38: Questioning the Parent-of-Origin Effect in TRIM28-Associated Wilms Tumor Predisposition (A-178)

Sofia D Augello, Aachen (Germany)

P-39: De novo occurrence of pathogenic variants in breast cancer core genes in Germany (A-341)

Carlotta Dencker, Leipzig (Germany)

P-32: Expanding Risk Assessment: The Value of the PRS in Women with Breast Cancer Meeting German HBOC Criteria Without Detectable Monogenic Cause (A-347)

Paulina Diepers, Leipzig (Germany)

# P-176: The spectrum of immunoglobulin heavy chain enhancer hijacking in chronic lymphocytic leukemia (A-214)

Cosima Drewes, Ulm (Germany)

# P-170: Towards establishment of photochemical approaches for genome-wide and targeted measurement of charge transfer through DNA (A-261)

Sven Fauth, Ulm (Germany)

P-1: Compound library screening to modulate the tumor-like proliferation of CCM3 knockout endothelial cells (A-186)

Janne Lea Feldmann, Greifswald (Germany)

# P-174: Simultaneous angiosarcoma development in three family members with a POT1 variant: Unregulated telomerase activity and cancer predisposition (A-118)

Nergis Güzel, Aachen (Germany)

P-4: QuantumDNA: an open-source computational framework for quantum physical simulations of energy and charge transfer in DNA (A-164)

Dennis Herb, Ulm (Germany)

P-30: The intermediate penetrant variant BRCA1 R1699Q in the cohort of the Cologne Center of the German Consortium of Hereditary Breast and Ovarian Cancer (A-223)

Natalie Herold, Cologne (Germany)

P-9: Crossing the line: GJB2 a small gene with big impact for hearing loss shows epigenetic signature (A-320)

Michaela Angelika Hedwig Hofrichter, Wuerzburg (Germany)

P-3: CNVs and Epimutations: Dual Alterations in Imprinting Disorders (A-306)

Florian Kraft, Aachen (Germany)

P-27: Standardized Digital Risk Assessment Incorporating PRS for Hereditary Breast and Ovarian Cancer (A-197)

Rosanna Krakowsky, Leipzig (Germany)

P-33: Advancing rare disease diagnostics with whole transcriptome sequencing (A-194)

Evgenia Vibe, Munich (Germany)

P-5: PRPF31-related retinal dystrophy due to a novel deep intronic variant (A-122)

Larissa Mattern, Aachen (Germany)

P-36: Paired WES analysis of 781 FFPE tumour samples and matched normal tissue (FFPE or blood) reveals a high proportion of relevant germline variants (A-219)

Verena Rickert-Zacharias, Heidelberg (Germany)

P-6: Impact of cytosine methylation on the diffusion of charges along DNA: a quantum perspective (A-175)

Mirko Rossini, Ulm (Germany)

P-24: Genomic Homologous Repair Deficiency (HRD) as evidence type for classification of BRCA1/2 variants (A-230)

Simon Schnaiter, Innsbruck (Austria)

P-10: Recurrent pregnancy loss due to SYCP3 variants (A-234)

Marina Evi Spörrer, Munich (Germany)

# P-175: A novel polygenic score for multiple myeloma predicts incident disease risk and progression from MGUS independent of clinical factors (A-388)

Julian S. Wanner, Potsdam (Germany)

03:00 PM – 04:30 PM

Poster Slam 4 - Clinical Genetics Paediatrics and NDD

Chair: Johannes Lemke, Leipzig (Germany) &

Dagmar Wieczorek, Duesseldorf (Germany)

Taurus 1+2

Ground Floor

P-79: Using genome-sequencing to improve diagnostic yield in ACADSD (A-258)

Angela Abad Perez, Berlin (Germany)

P-95: Genetic diagnostics in adults with neurodevelopmental disorders – coming of age (A-291)

Ann-Kathrin Bauer, Oldenburg (Germany)

P-92: All signs pointed in that direction – how a presumed Krabbe disease turned out to be an EIF2AK2-related LEUDEN syndrome (A-148)

Cord-Christian Becker, Munich (Germany)

P-72: Expanding the phenotype of a FAT1-associated syndrome

(A-386)

Juliane Maria Beuschlein, Berlin (Germany)

# P-177: Allelic Missense Variants in FGF13A: Same Site, Different Syndrome, and a Caffeine Fix (A-216)

Elisabeth Bosch, Erlangen (Germany)

P-90: Inherited Truncating Variant in MBD5-Associated Neurodevelopmental Disorder (MAND): Possible Evidence for Variable Expressivity or Reduced Penetrance (A-317)

Bianca Greiten, Luebeck (Germany)

P-77: A NFIA-associated neurodevelopmental disorder with macrocephaly in two siblings born to a clinically unaffected mother (A-225)

Maximilian Haas, Duesseldorf (Germany)

P-136: Second report of a de novo deletion of the non-coding exon 1 in NEXMIF in an adult female with intellectual disability and epilepsy (A-212)

Radina Karaivanova, Aachen (Germany)

P-91: High Familial Penetrance of a 1.425 Mb 17q12 Microduplication: Clinical and Genetic Characterization of a Multigenerational Family (A-377)

Anna-Sophie Liegmann, Luebeck (Germany)

P-65: NAA15-Associated Disorder Beyond Childhood: Clinical Insights from Adult Patients (A-295)

Manuel Michels, Duesseldorf (Germany)

# P-54: MAPK8IP3-related neurodevelopmental disorder: insights into a variant-specific phenotypic spectrum via a large follow-up study (A-126)

Amica Müller-Nedebock, Leipzig (Germany)

P-110: First Adult Patient with SLC6A9-associated Glycine Encephalopathy: A Case Report (A-147)

Elia Schlaich, Aachen (Germany)

P-73: Maternally Inherited CDKN1C Splice-Site Variant Causing Recurrent Fetal IMAGe Syndrome (A-196)

Alexander Schulz, Jena (Germany)

P-83: Identification of an intronic likely pathogenic HUWE1 variant in a patient with congenital heart defect, dysmorphic features and developmental delay (A-364)

Lisa Siegmund, Munich (Germany)

P-140: Girl with non-syndromic prenatal short stature and unbalanced X;15 translocation - A case highlighting fundamental genetic principles (A-246)

Houda Souidi, Hannover (Germany)

P-122: Novel BCL11A variant in a patient with Dias-Logan syndrome (A-368)

Andreas Tzschach, Freiburg (Germany)

P-108: Partial CCT3 Deletion in a Patient with Global Developmental Delay, Hypotonia, Microcephaly and signs of connective tissue disorder - A Case Report (A-361)

Philipp Weber, Neu-Ulm (Germany)

P-107: Familial Presentation of Nystagmus and Optic Nerve Hypoplasia in Noonan Syndrome with Loose Anagen Hair due to a PPP1CB Mutation (A-202)

Maren Wenzel, Munich (Germany)

P-99: Pathogenic germline variant in ABL1 – just a rare connective tissue disease or much more? (A-190)

Sarah Westeppe, Frankfurt (Germany)

P-42: SMN1 variants causing false-positive SMA newborn screening: Diagnostic pitfalls, functional insights, and clinical and therapeutic implications (A-132)

Brunhilde Wirth, Cologne (Germany)

03:00 PM – 04:30 PM

Poster Slam 5 - Technology, Methods, Omics

Chair: Diana Le Duc, Dresden (Germany) &

Alexander Hoischen, Nijmegen (The Netherlands)

Mars 1+2

Third Floor

P-166: Integrative Long-Read and Bioinformatic Analysis of STRC and OTOA in Hearing Loss Diagnostics (A-339)

Joshua Bopp, Wuerzburg (Germany)

P-89: Discrepant Results of Invasive and Non-Invasive Prenatal Testingin a Case of Confirmed Ring Chromosome 13 (A-264)

Tabea Dittrich, Ulm (Germany)

P-51: Use of cell-free DNA from amniotic fluid supernatant in routine prenatal diagnostics (A-331)

Paul Dremsek, Vienna (Austria)

# P-185: When single-modality testing falls short: GLS-related neurodevelopmental movement disorder as a unique example of multi-omics-driven diagnosis (A-145)

Ivana Dzinovic, Munich (Germany)

P-70: Clinical Relevance of Synonymous Single Nucleotide Variants (A-228)

Johannes Ferl, Dresden (Germany)

P-190: Adeno-Associated Virus (AAV)-Based Gene Therapy Approach for the Treatment of L-2-Hydroxyglutaric Aciduria (A-207)

Hans Zempel, Cologne (Germany)

P-133: Chromosome 8 gains in mosaic form: postnatal resolution of prenatal brain–renal anomalies (A-280)

Mykyta Kachanov, Hamburg (Germany)

P-101: Phasing of complex CYP21A2 alleles in patients with Congenital Adrenal Hyperplasia (CAH) (A-128)

Stephanie Kleinle, Munich (Germany)

P-57: From Face to Function: SEC24C Deficiency Mimics GPI-Anchor Biosynthesis Disorders (A-321)

Alexej Knaus, Bonn (Germany)

P-69: Trio re-analysis of HPO-negative genomes with the MorbidGenes Panel identifies new diagnoses in children with (severe) developmental delay (A-277)

Marlene Kullik, Oldenburg (Germany)

P132: DUCKS4: A comprehensive workflow for Nanopore sequencing analysis of Facioscapulohumeral Muscular Dystrophy (FSHD) (A-350)

Tamara Löwenstern, Vienna (Austria)

P-167: Regulatory Pathways for the Validation of Omics-Based Diagnostics: European and National Implementation Frameworks (A-244)

Annalisa Musola, Wuerzburg (Germany)

P-41: Long-read sequencing reveals pathogenic short tandem repeat expansions in patients with movement disorders (A-247)

Denny Popp, Leipzig (Germany)

P-165: Analysis of short tandem repeat loci using long-read Oxford Nanopore (ONT) and Pacific Biosciences (PacBio) HiFi sequencing (A-181)

Vitus Prokosch, Munich (Germany)

P-168: Exploring the limits of ultra-sensitive cfDNA duplex sequencing: relationships between input material, sequencing depth, and detection sensitivity (A-213)

Andreas Risch, Munich (Germany)

# P-187: CITE-seq enables high-resolution profiling of rare neonatal immune cell populations (A-375)

Paula Rothämel, Munich (Germany)

P-55: Diagnosing and exploring ALDH1A2-related disorder through integrated clinical, genomic, in silico and functional analyses (A-239)

Anna Schaffeldt, Oldenburg (Germany)

P-164: Streamlining diagnostics in over 400 men with azoospermia – reliable detection of Y-chromosomal AZF deletions using genome sequencing (A-243)

Isabell Schumann, Muenster (Germany)

P-134: Characterization of a complex CHD2 structural variant using nanopore-based long-read sequencing (A-276)

Ugo Sorrentino, Munich (Germany)

# P-186: Long-Read RNA sequencing reveals tissue-specific isoform landscapes for rare disease research (A-256)

Maren Spaeter, Bad Homburg (Germany)

P-40: Resolution of a cryptic intragenic duplication in FLCN through combined nanopore DNA and RNA analyses (A-177)

Pauline Wittig, Aachen (Germany)

03:00 PM – 04:30 PM

Poster Slam 6 - Genes and Mechanisms

Chair: Christian Kubisch, Hamburg (Germany) &

Kerstin Ludwig, Bonn (Germany)

Orion 1+2

Second Floor

P-147: Neofunctionalization of CELA2B: From pancreatic elastase to putative metabolic regulator (A-323)

Liana Abramian, Hamburg (Germany)

# P-183: Integrating targeted Nanopore mRNA Sequencing into CFTR Variant Interpretation: Functional Evidence for Clinical Classification (A-149)

Simone Ahting, Leipzig (Germany)

P-153: Novel adjacent dominant NARS1 variants in families with peripheral neuropathy (A-129)

Danique Beijer, Aachen (Germany)

P-159: Phenotype of KRT10-nEDD-revertant-mosaic patients correlates with the localisation of the variant (A-292)

Bettina Burger, Basel (Switzerland)

# P-181: Evidence that disruption of Discoidin Domain Receptor 2 contributes to palatemalformations through effects on the extracellular matrix (A-260)

Nina Ishorst, Bonn (Germany)

P-161: A de novo ALX4 frameshift variant expands the spectrum of dominant ALX4-related disorders (A-270)

Nicole Cesarato, Bonn (Germany)

P-162: Whole-exome sequencing of a young adult sibling from a family affected by severe periodontitis revealed a functional premature stop codon in CD300C (A-333)

Avneesh Chopra, Berlin (Germany)

P-149: Transcriptome-informed Genome Analysis in Neurodevelopmental Disorder (A-116)

Andreas Fink, Erlangen (Germany)

P-154: Sensory polyneuropathy-causing duplication variant in ATL3 leads to aberrant ER membrane shaping (A-173)

Lena Franken, Aachen (Germany)

P-160: Biallelic GTF3C5 Variants Cause a Multisystem Developmental Disorder: Further Evidence for Gene–Disease Associatio (A-206)

Anne Frederiksen, Kiel (Germany)

P-157: A recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy (A-369)

Josua Kegele, Tuebingen (Germany)

# P-184: Histological and molecular characterisation of meiotic arrest due to M1AP and SHOC1 variants (A-204)

Nadia Korthals, Muenster (Germany)

P-145: Sphingolipid and Phospholipid Homeostasis Disruption as a Pathogenic Mechanism in Neuroacanthocytosis Syndromes: Evidence from VPS13A and XK Disease (A-174)

Gabriel Miltenberger-Miltenyi, Munich (Germany)

# P-182: The Impact of variants in LDHA on low density lipoprotein metabolism (A-127)

Melina Musfeldt, Hamburg (Germany)

P-150: Genetic testing in paroxysmal dyskinesia (A-157)

Lena Antonietta Nothacker, Luebeck (Germany)

P-148: Functional investigation of de novo variants in CNOT9 causing neurodevelopmental delay (A-161)

Henry Oppermann, Leipzig (Germany)

P-155: Expansion of molecular and clinical aspects of EPS8L2 (DFNB106)-associated hearing loss emphasizes a potential therapeutic window (A-119)

Daniel Owrang, Goettingen (Germany)

P-158: Biallelic pathogenic variants in SDHC are associated to a Leigh syndrome-like phenotype (A-123)

Sharlaine Piel, Hamburg (Germany)

P-144: Intellectual disability and skin anomalies - an unexpected high rate of somatic mosaicism (A-113)

Fei Song, Duesseldorf (Germany)

P-151: Endoplasmic reticulum storage of mutant haptoglobin as a cause of chronic liver damage (A-170)

Amelie Stalke, Hannover (Germany)

04:30 PM – 06:00 PM

Get-Together

Foyer 0 +1 +2

05:00 PM – 06:00 PM

Sitzung der Jungen Humangenetik

(Young Human Geneticists)

Hörsaal

Ground Floor

06:00 PM – 06:15 PM

Opening Session

Audimax

First Floor

06:15 PM – 07:00 PM

Award of the GfH Medal of Honour

Audimax

First Floor

07:00 PM – 07:45 PM

Keynote Lecture

Audimax

First Floor

Non-viral gene therapies powered by DNA, nanotechnology, and AI

Hendrik Dietz , Munich (Germany)

Time

Session

Room

08:45 AM – 09:30 AM

Plenary Session 1

Chair: Juliane Winkelmann, Munich (Germany) &

Rami Abou Jamra, Leipzig (Germany)

Audimax

First Floor

ReNU’d hope for families: snRNAs in neurodevelopmental disorders

Nicola Whiffin, Oxford (UK)

09:30 AM – 10:30 AM

Selected Presentations

Chair: Juliane Winkelmann, Munich (Germany) &

Rami Abou Jamra, Leipzig (Germany)

Audimax

First Floor

09:30 AM – 09:45 AM

De novo variants in LDB1 are linked to distinct neurodevelopmental disorders depending on variant location and consequences (A-139)

Anne Gregor, Bern (Switzerland)

09:45 AM – 10:00 AM

Rare functional variants in FBN2 represent major genetic determinants of bicuspid aortic valve disease (A-266)

Laura Liane Koebbe, Bonn (Germany)

10:00 AM – 10:15 AM

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype (A-138)

Ilaria Parenti, Essen (Germany)

10:15 AM – 10:30 AM

Discovery and Validation of Mitochondrial Disease Biomarkers in the Largest Patient Cohort Study to Date (A-381)

Dmitrii Smirnov, Munich (Germany)

10:30 AM – 11:00 AM

Coffee Time / Poster Viewing

Foyer 0 +1 +2

11:00 AM – 12:30 PM

EDU 2
Long Read Sequencing

Audimax

First Floor

Organised by: Florian Kraft, Aachen (Germany)

Nanopore Adaptive Sampling: A Dynamic Approach to Target Enrichment in Clinical Diagnostics

Matthias Linke, Mainz (Germany)

Short tandem repeat expansion disorders and long-read sequencing: the good, the bad und the ugly

Denny Popp, Leipzig (Germany)

Long road towards long-read genome sequencing for comprehensive first line diagnostics?

Tobias Haack, Tuebingen (Germany)

Longer reads, deeper insights? A second-tier perspective

Maureen Jacob, Munich (Germany)

Paired Tumor–Normal Long-Read genome sequencing in Blood Cancers

Robert Meyer, Aachen (Germany)

11:00 AM – 12:30 PM

Workshop 1

From Gene Identification to Molecular Mechanism - Genes and Phenotypes

Chair: Katja Eggermann, Aachen (Germany) & Nadja Ehmke, Berlin (Germany)

Hörsaal

Ground Floor

11:00 AM – 11:15 AM

ERO1A is a novel disease gene for autosomal recessive ichthyosis and keratoderma with bone fragility (A-354)

Tess Holling, Hamburg (Germany)

11:15 AM – 11:30 AM

Phenotypic and functional insights into the PHF5A-associated spliceosomopathy (A-352)

Inken Junod, Hamburg (Germany)

11:30 AM – 11:45 AM

Uncovering a new enzyme-rescue mechanism as the cause of a rare skeletal dysplasia (A-245)

Hristiana Lyubenova, Berlin (Germany)

11:45 AM – 12:00 PM

The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice (A-187)

Barbara Vona, Goettingen (Germany)

12:00 PM – 12:15 PM

Known Gene, new Phenotype: DGUOK dysfunction as a monogenetic cause of pleuroparenchymal fibroelastosis (A-253)

Sandra v. Hardenberg, Hannover (Germany)

12:15 PM – 12:30 PM

Biallelic WDHD1 variants cause microcephalic primordial dwarfism (A-348)
Debora Tibbe, Hamburg (Germany)

11:00 AM – 12:30 PM

Workshop 2

Cancer

Chair: Julia Hentschel, Leipzig (Germany) &

Anne Quante, Munich (Germany)

Venus 1+2

Third Floor

11:00 AM – 11:15 AM

Cross-species epigenetic profiling of TCL1-associated T- and B-cell leukemias (A-205)

Billy Jebaraj, Ulm (Germany)

11:15 AM – 11:30 AM

Cancer predisposition in the international INFORM (INdividualized Therapy FOr Relapsed Malignancies in Childhood) Registry (A-273)

Steffen Hirsch, Heidelberg (Germany)

11:30 AM – 11:45 AM

Functional evaluation of SDHB missense variants in vitro (A-326)
Arne Jahn, Dresden (Germany)

11:45 AM – 12:00 PM

Integrative Fragmentomics: Machine Learning–Driven Analysis of cfDNA Whole-Genome Sequencing for Liquid Biopsy in Cancer (A-153)

Leonie Pohl, Munich (Germany)

12:00 PM – 12:15 PM

Functional analyses of RUNX1 variants – from optimized transactivation assays towards multiplex assay for variant effects (MAVE) (A-311)

Alina Prüne, Hannover (Germany)

12:15 PM – 12:30 PM

Two years of Multifactorial Breast Cancer Risk Assessment including PGS in routine care in western Austria: Lessons learned and outlook (A-241)

Simon Schnaiter, Innsbruck (Austria)

11:00 AM – 12:30 PM

Workshop 3

Clinical Genetics and Prenatal Diagnostics

Chair: Georgia Vasileiou, Hannover (Germany) &

Matias Wagner, Munich (Germany)

Taurus 1+2

Ground Floor

11:00 AM – 11:15 AM

Parental diseases and predispositons detected in prenatal trio exome diagnostics (A-235)

Uwe Ahting, Martinsried (Germany)

11:15 AM – 11:30 AM

RNUopathies – expansion of clinical spectra and family-oriented resources (A-135)

Nuria Brämswig, Muenster (Germany)

11:30 AM – 11:45 AM

Deciphering Dup15q syndrome: Integrating the genomic architecture of supernumerary (iso-)dicentric chromosomes with longitudinal deep-phenotyping (A-328)

Sebastian Burkart, Heidelberg (Germany)

11:45 AM – 12:00 PM

Genetic variations in 135 pediatric CAKUT patients requiring kidney replacement therapy and their association with outcome after transplantation (A-200)

Helge Martens, Hannover (Germany)

12:00 PM – 12:15 PM

Clinical Experience with Preimplantation Genetic Testing for Monogenic Disorders at Synlab MVZ Human Genetics Munich: Data and Insights (A-238)

Jasmina Ćomić, Munich (Germany)

12:15 PM – 12:30 PM

NUS1-Related Disease: Uncovering hidden clinical features and novel mutational hotspots (A-195)

Melissa Pauly, Erlangen (Germany)

12:30 PM – 02:00 PM

Lunch / Meetingtime / Poster Viewing / Lunch Symposium

Foyer 0 +1 +2

12:45 PM – 01:45 PM

Sitzung der Naturwissenschaftler

Venus 1+2

Third Floor

Organised by: Christine Neuhaus, Cologne (Germany)

01:00 PM – 02:00 PM

Scientific Speed Dating

Foyer 3

02:00 PM – 03:30 PM

EDU 3

RNA: how to use RNA to boost diagnostic by identifying variants?

Audimax

First Floor

Organised by: Holger Prokisch, Munich (Germany)

RNAseq "solving the unsolved": clinical implementation of RNAseq in a cohort of 500 mitochondrial disease cases

Fatemeh Peimani, Munich (Germany)

Technical implementation of RNA-seq for rare disease applications

Vicente A. Yépez, Munich (Germany)

Diagnostic RNA-seq in unsolved genetic disorders

Tjakko van Ham, Rotterdam (The Netherlands)

"Viel hilft viel" increasing omics evidence improve confidence in diagnostics

Dmitrii Smirnov, Munich (Germany)

02:00 PM – 03:30 PM

Workshop 4

From Gene Identification to Molecular Mechanism - NDD

Chair: Natja Haag, Aachen (Germany) & Gökhan Yigit, Goettingen (Germany)

Hörsaal

Ground Floor

02:00 PM – 02:15 PM

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs (A-330)

Loisa Dana Bonde, Hamburg (Germany)

02:15 PM – 02:30 PM

Small RNA-sequencing analysis reveals distinct functional effects of LESKRES-associated AGO2 variants on miRNA binding and processing (A-293)

Christina Kiel, Regensburg (Germany)

02:30 PM – 02:45 PM

Recessive and dominant variants in RNU2-2 lead to frequent developmental and epileptic encephalopathies (A-115)

Elsa Leitão, Essen (Germany)

02:45 PM – 03:00 PM

Pathogenic RBMX variants cause clinically variable syndromic neurodevelopmental disorder with evidence of functional redundancy with retrocopy RBMXL1 (A-143)

Carolin Mattausch, Essen (Germany)

03:00 PM – 03:15 PM

Inherited and de novo variants in CACNG3 cause a non-syndromic neurodevelopmental disorder (A-193)

Kristin Mehner, Leipzig (Germany)

03:15 PM – 03:30 PM

Elucidating the shared genetic background of dystonia and neurodevelopmental disorders (A-114)

Linn Welzel, Luebeck (Germany)

02:00 PM – 03:30 PM

Workshop 5

Technology and Omics

Chair: Felix Boschann, Berlin (Germany) &

Christian Schlein, Hamburg (Germany)

Venus 1+2

Third Floor

02:00 PM – 02:15 PM

Feasibility of Whole-Genome Sequencing and Variant Analysis from Dried Blood Spots for Genomic Newborn Screening (A-117)

Isabel Rebecca Betzler, Heidelberg (Germany)

02:15 PM – 02:30 PM

Using long-read sequencing to decipher the SMN2 locus in severely affected SMA patients. (A-303)

Maureen Jacob, Munich (Germany)

02:30 PM – 02:45 PM

Transcriptomics analysis achieves new solved cases in rare undiagnosed dystonia (A-158)

Alice Saparov, Munich (Germany)

02:45 PM – 03:00 PM

Saturation mutagenesis of immune genes and gene delivery vectors by oligonucleotide pool synthesis (A-290)

Jonathan Schmid-Burgk, Bonn (Germany)

03:00 PM – 03:15 PM

Benchmarking Mosaic Variant Detection Using NGS Amplicon Spike-In (A-263)

Sonja Wegscheider, Leipzig (Germany)

03:15 PM – 03:30 PM

Harmonized framework for RNA-seq-based rare disease diagnostics allows rapid and robust results interpretation in large cohorts (A-255)

Vicente Yépez, Munich (Germany)

02:00 PM – 03:30 PM

Workshop 6

Complex disorders and Population Genetics

Chair: Andreas Forstner, Bonn (Germany) &

Dario Gajewski, Göttingen (Germany)

Taurus 1+2

Ground Floor

02:00 PM – 02:15 PM

Genetic architecture of COVID-19 in the German National Pandemic Cohort Network (NAPKON): Insights from exome and genome sequencing (A-184)

Ayda Abolhassani, Bonn (Germany)

02:15 PM – 02:30 PM

A combination of biochemical and genetic screening reveals an unexpectedly high prevalence of familial hypercholesterolemia in Bavarian children  (A-281)

Artem Amosov, Munich (Germany)

02:30 PM – 02:45 PM

The role of de novo variants in neurodevelopmental disorders with epilepsy (A-249)

Andrea Eoli, Postdam (Germany)

02:45 PM – 03:00 PM

Massively Parallel Reporter Assays (MPRA) Identify Causal Variants in Complex Inflammatory Disease (A-329)

Tim Kühnlenz, Berlin (Germany)

03:00 PM – 03:15 PM

Impact of Common Genetic Variants in Undiagnosed Rare Early-Onset Epilepsies (A-272)

Ala Sahada, Potsdam (Germany)

03:15 PM – 03:30 PM

Long-read sequencing of >4,000 infertile men – how human genetics can advance the development of novel non-hormonal contraceptives (A-325)

Frank Tüttelmann, Muenster (Germany)

03:30 PM – 04:00 PM

Coffee Time / Poster Viewing

Foyer 0 +1 +2

04:00 PM – 04:45 PM

Plenary Session 2

Chair: Miriam Elbracht, Aachen (Germany) &

Uwe Kornak, Göttingen (Germany)

Audimax

First Floor

Mutational Landscape of the Male Germline and Its Inheritance Consequences

Raheleh Rahbari, Cambridge (UK)

05:00 PM – 06:30 PM

GfH General Assembly

Audimax

First Floor

08:00 PM

Start Networking Evening

(Registration reqiured)

Bamberger Haus

Time

Session

Room

08:30 AM – 10:00 AM

Symposium 3

Updates on Polygenic scores

Chair: Henrike Heyne Potsdam (Germany) &

Johannes Zschocke, Innsbruck (Austria)

Audimax

First Floor

08:30 AM – 09:15 AM

Translational genomics of complex diseases

Eleftheria Zeggini, Munich (Germany)

09:15 AM – 10:00 AM

Reassessing penetrance and expressivity using a genotype first approach in population cohorts

Michael Weedon, Exeter (UK)

08:30 AM – 10:00 AM

Symposium 5

Cardiology meets Genetics – First Joint Symposium of DGIM & GfH

Chair: Ulrich Zechner, Cologne (Germany) &

Eva Klopocki, Wuerzburg (Germany)

Hörsaal

Ground Floor

Actionable Cardiac Genes: From Risk Stratification to Gene-specific Treatments

Benjamin Meder, Heidelberg (Germany)

Inherited cardiac diseases: From genetic mechanisms towards therapy

Bernd Wollnik, Goettingen (Germany)

10:00 AM – 10:30 AM

Coffee Time / Poster Viewing

Foyer 0 +1 +2

10:30 AM – 12:00 PM

EDU 4

Mutations we almost missed

Audimax

First Floor

Organised by: Bernd Wollnik, Goettingen (Germany)

Fallvorstellung

Rami Abou Jamra, Leipzig (Germany)

Fei Song , Duesseldorf (Germany)

Alex Hoischen, Nijmegen (The Netherlands)

Henrike Steding, Hannover (Germany)

Gökhan Yigit, Goettingen (Germany)

10:30 AM – 12:00 PM

Workshop 7

From Gene Identification to Molecular Mechanism - Mechanisms, Models, and Therapies

Chair: Anne Gregor, Bern (Switzerland) & Henry Oppermann, Leipzig (Germany)

Hörsaal

Ground Floor

10:30 AM – 10:45 AM

Proof-of-concept for non-viral gene therapy of CLCN7-dependent autosomal recessive osteopetrosis using a transposon (A-342)

Dario Gajewski, Goettingen (Germany)

10:45 AM – 11:00 AM

Development of an Engineered Human Myocardium model to study TOP3A-related cardiomyopathy (A-384)

Marianne Gaubert, Goettingen (Germany)

11:00 AM – 11:15 AM

The Potential of Whole Genome Sequencing in Pharmacogenetics: A Retrospective Health Record Study in Rare Disease Patients (A-182)

Jeremias Krause, Aachen (Germany)

11:15 AM – 11:30 AM

apmer ASO for GRIN1-related Developmental and Epileptic Encephalopathy (A-316)

Ilona Krey-Grauert, Leipzig (Germany)

11:30 AM – 11:45 AM

Sodium channel activity differentially affects abundance of C-LTMR neurons in mice (A-171)

Martha Lürkens, Aachen (Germany)

11:45 AM – 12:00 PM

Using Drosophila melanogaster to determine the pathogenicity of missense variants in piRNA pathway genes identified in infertile men (A-162)

Birgit Stallmeyer, Muenster (Germany)

10:30 AM – 12:00 PM

Workshop 8

Basic Mechanisms and Epigenetics

Chair: Tess Holling, Hamburg (Germany) &

Denny Popp, Leipzig (Germany)

Venus 1+2

Third Floor

10:30 AM – 10:45 AM

Hyperactivity of the non-canonical inflammasome in SPG11 and SPG48 (A-155)

Muhammad Awais Afzal, Jena (Germany)

10:45 AM – 11:00 AM

Genome-wide Identification and Validation of Human Imprinting Control Regions Using Long-Read Trio Sequencing and Allele-Specific Transcriptomics (A-340)

Joshua Bopp, Wuerzburg (Germany)

11:00 AM – 11:15 AM

From enhancer variant to bone phenotype: functional modeling in iPSC-derived cells (A-357)

Regina Grün, Goettingen (Germany)

11:15 AM – 11:30 AM

The Value of Epigenetic Signatures as Key to Diagnosis in Neurodevelopmental Disorders (A-378)

Teresa Neuhann, Munich (Germany)

11:30 AM – 11:45 AM

Light inducible FLPase reconstitution (LIFR) enables temporal control of gene expression for human genetic disease modelling in Drosophila (A-373)

Roman Praschberger, Innsbruck (Austria)

11:45 AM – 12:00 PM

High-throughput differentiation of human blood vessel organoids to model vascular diseases (A-192)

Dariush Skowronek, Greifswald (Germany)

10:30 AM – 12:00 PM

Workshop 9

Bioinformatics / Biostatistic

Chair: Bernt Popp, Berlin (Germany) &

Axel Schmidt, Bonn (Germany)

Taurus 1+2

Ground Floor

10:30 AM – 10:45 AM

Bone2Gene: Deep Phenotyping of Rare Bone Diseases (A-284)

Eike Bolmer, Bonn (Germany)

10:45 AM – 11:00 AM

NGPsuite: Privacy-preserving integration of GestaltMatcher face analysis and PubCaseFinder HPO-based phenotype matching (A-259)

Tzung-Chien Hsieh, Bonn (Germany)

11:00 AM – 11:15 AM

Prediction and exploration of ReNU syndrome by facial image analysis (A-314)

Alexander Hustinx, Bonn (Germany)

11:15 AM – 11:30 AM

Disentangling Familial and Syndromic Facial Features Using Latent Embedding Analysis (A-140)

Carolin Kaffiné, Bonn (Germany)

11:30 AM – 11:45 AM

Predicting Functional Effects of Ion Channel Variants Using Deep Learning and Protein Language Models (A-313)

Francesca Rissom, Potsdam (Germany)

11:45 AM – 12:00 PM

Exploring the boundaries of the diagnostic spectrum of FSHD - Genetic and epigenetic profiling for FSHD diagnosis using nanopore sequencing (A-279)

Florentine Scharf, Munich (Germany)

12:00 PM – 01:30 PM

Lunch / Meetingtime / Poster Viewing / Lunch Symposium

Foyer 0 +1 +2

12:15 PM – 01:15 PM

DFG-Fördermöglichkeiten
Lea Berg, Bonn (Germany)

Hörsaal

Ground Floor

12:15 PM – 01:15 PM

GHGA-Workshop: 10.000 Genomes and Counting: Experiences, Interfaces and Perspectives from the genomDE Model Project

Organised by: Jan Eufinger (GHGA/DKFZ), Andreas Till (genomDE/BfArM), Tatjana Hübner (genomDE/BfArM).

Taurus 1+2

Ground Floor

12:15 PM – 12:25 PM

Opening: On the Path to Modern Genomic Medicine: Status of the genomDE Model Project

Andreas Till, Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM)

12:25 PM – 12:35 PM

Data Handling in GRZ and GHGA

Christian Mertes, TUM & TUM Klinikum

12:35 PM – 12:45 PM

A central trust centre at the Robert Koch Institute: Gateway for Secure Genomic Research and Health Care

Anna Lübbe, Robert Koch-Institut (RKI)

12:45 PM – 12:55 PM

Clinical Perspective on genomDE - first impact in clinical practice of genomDE 

Malte Spielmann, Charité – Universitätsmedizin Berlin

12:55 PM – 01:15 PM

Joint Discussion with all speakers of the session

Chair: Jan Eufinger (GHGA/DKFZ)

01:30 PM – 02:30 PM

Symposium 6

Gene therapies

Chair: Nataliya Di Donato, Hannover (Germany) &

Peter Krawitz, Bonn (Germany)

Audimax

First Floor

01:30 PM – 02:00 PM

Tailoring AAV vectors for in vivo gene therapy

Hildegard Bühning, Hannover (Germany)

02:00 PM – 02:30 PM

Optogenetic therapies: opportunities and challenges

Tobias Moser, Goettingen (Germany)

01:30 PM – 02:30 PM

Symposium 7

Pangenome

Chair: Birte Kehr, Hannover (Germany) &

Martin Kircher, Bonn (Germany)

Hörsaal

Ground Floor

01:30 PM – 02:00 PM

Pangenome based analysis of structural variation

Tobias Marschall, Duesseldorf (Germany)

02:00 PM – 02:30 PM

Population sampling in the human pangenome reference
Eimear Kenny, New York (USA)

01:30 PM – 02:30 PM

Symposium 8:

French–German SFGH-GfH Joint-Symposium

Chair: Juliane Winkelmann, Munich (Germany) &

Markus Nöthen, Bonn (Germany)

Venus 1+2

Third Floor

01:30 PM – 02:00 PM

Impact of genetic diversity on HLA and KIR imputation

Nicolas Vince, Nantes (France)

02:00 PM – 02:30 PM

France Médecine Génomique Plan (PFMG)

Jean-François Deleuze (France)

02:30 PM – 02:45 PM

Closing remarks and Awards Ceremony

Audimax

First Floor