Early Career Awards
Past Winners of the
- Early Career Awards for outstanding research by young scientists presented as a spoken contribution at the conference
- Isabelle Oberlé Award for and outstanding presentation in the field of genetics of intellectual disability
- Lodewijk Sandkuijl Award for an outstanding talk in the field of complex genetics and statistical genetics
- Vienna Medical Academy Award for the best talk in translational genetic research, therapy of genetic diseases, including societal impact
- Mia Neri Award for the best talk in cancer research
- ESHG Poster Awards
For pictures of the awarding ceremonies, click here
European Human Genetics Conference 2024
Early Career Awards for Outstanding Science | |
Yuyang Chen | De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders |
Andrii Iakovliev | Discovery of core genes for type 1 diabetes via genome-wide aggregation of trans-effects using UK Biobank proteomics study. |
Karolina Kaminska | Mutations in COQ8B are a novel cause of recessive non-syndromic retinitis pigmentosa. |
Sheila Kwok | Single-cell transcriptomics of post-implantation embryos: unveiling aneuploidy effects and lineage dynamic |
Kate Stanley | Cell type signatures in cell free DNA fragmentation profiles reveal disease biology |
Isabelle Oberlé Award | |
Claire Salter (Exeter, United Kingdom) | Elucidating the clinical spectrum and expanding genotype-phenotype associations in PI4KA-related disorder |
Lodewijk Sandkuijl Award | |
Tobi Alegbe | Single-cell eQTL mapping in healthy and IBD-afflicted terminal ileum offers novel insights into disease susceptibility |
Vienna Medical Academy Award | |
Franziska Haarich | Allele-specific epigenome therapy in COL6-RD patient-derived primary fibroblasts |
Mia Neri Award | |
Anja Fischer | Single-cell eQTL mapping in healthy and IBD-afflicted terminal ileum offers novel insights into disease susceptibility |
Dian Donnai and Jill Clayton-Smith Award | |
Dilsu Dicle Erkan | Exploring the Depths of Undiagnosed Skeletal Dysplasia in a Consanguineous Pedigree |
ELPAG Young Investigator Award | |
Erin Tutty | “This is going to change everything”: A mixed-methods study examining outcomes of reproductive genetic carrier screening within the first 12-months post-result |
ESHG Poster Awards | |
Ohad Wormser (Best Clinical Research) | P04.036.A - IHH enhancer within neighboring NHEJ1 intron acts in eye development and its variant causes microphthalmia, anophthalmia and coloboma |
Eva Holtkamp (Best Basic Research) | P16.003.B – Integration of variant annotations using deep set networks boosts rare variant association genetics |
Poster Award Finalists | |
Sissy Bassani
| P10.001.D Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
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Kristia Yiangou
| P01.080.D Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
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Anina Lund
| P11.131.C Establishing the Molecular Foundation of Brain Anatomy in Living Individuals
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Marcell Veiner
| P01.094.A Predicting mutation risk at nucleotide scale using transformer neural networks
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Jacob Sampson
| P04.008.A Identification of expression and splicing Quantitative Trait Loci in the retina and retinal pigment epithelium implicates novel regulatory regions and divergence in genetic regulation across diverse human populations
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European Human Genetics Conference 2023
Early Career Awards for Outstanding Science | |
Anne Hebert (Edegem, Belgium)
| Expanding genotype-phenotype associations in biglycan-related Meester-Loeys syndrome |
Thomas Vanderstichele (Cambridge, United Kingdom)
| Misexpression of inactive genes is associated with nearby rare structural variants Presentation Number: C09.4 |
Wouter Steyaert (Nijmegen, Netherlands)
| Systematic Pan-European reanalysis of 6,004 genetically undiagnosed rare disease families yields 506 new diagnoses Presentation Number: C25.2 |
Adam Jackson (Manchester, United Kingdom)
| Bi-allelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects Presentation Number: C29.4 |
Isabelle Oberlé Award | |
Lettie Rawlins (Exeter, United Kingdom)
| Clinical, genetic and molecular delineation of KPTN-related disorder in humans and mice identifies mTOR inhibition as a candidate therapeutic approach Presentation Number: C24.1 |
Lodewijk Sandkuijl Award | |
Kristin Tsuo (Cambridge, United States)
| Polygenic risk scores from multi-ancestry GWAS of >450 phenotypes in the Pan-UK Biobank Project offer insights into impacts of genetic architecture, ancestry, and statistical methodology on prediction Presentation Number: C02.5 |
Vienna Medical Academy Award | |
Yuval Yogev (Beer-Sheva, Israel)
| Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone Presentation Number: PL3.5 |
Mia Neri Award | |
Max Tamlander (Helsinki, Finland)
| Genome-wide polygenic risk scores substantially impact colorectal neoplasm risk with implications for stratified screening Presentation Number: C20.2 |
ELPAG Young Investigator Award | |
Jana Gurasashvili (London, United Kingdom)
| Hope lost and found, a qualitative exploration of the role of hope in parents offered genome sequencing Presentation Number: C04.6 |
ESHG Poster Awards | |
Javier de Nicolás-Hernández (Madrid, Spain)
| Transcriptomic identification of a novel FH-deficient-like papillary renal cell carcinoma molecular subtype Presentation Number: P13.090.B - Best Poster in Basic Research |
Asier Iturrate (Madrid, Spain)
| Recessive mutations in SCNM1 are a new cause of Orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia Presentation Number: P12.018.B - Best Poster in Clinical Research |
Poster Award Finalists | |
Alina Kurolap (Tel Aviv, Israel)
| Complete loss of the atrial natriuretic peptide-converting enzyme CORIN leads to LA-CHAF syndrome: left atrial cardiomyopathy, hypertension, arrhythmia and fibrosis Presentation Number: P06.011.C |
Paola Tesolin (Trieste, Italy)
| Repurposing drugs to treat SLC7A8 age-related hearing loss Presentation Number: P03.014.B
|
Fulvio D'Abrusco (Pavia, Italy)
| Cryptic or not? Pathogenic intronic variants detected from WES data significantly increase the diagnostic yield in Joubert syndrome Presentation Number: P10.011.C |
Thorkild Terkelsen (Aarhus, Denmark)
| Investigating the molecular genetic basis of hereditary spastic paraplegia due to a large chromosomal insertion in the SOX3 topologically associating domain Presentation Number: P10.060.D |
Marie Sadler (Lausanne, Switzerland)
| Multi-layered genetic approaches to identify approved drug targets Presentation Number: P18.016.D |
European Human Genetics Conference 2022
Early Career Awards for Outstanding Science | |
Jana Henck (Berlin, Germany)
| Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development Presentation Number: PL2.1 |
Paniz Farshadyeganeh (Nagoya, Japan)
| Interactions between muscle glucose homeostasis and neuromuscular signal transduction – Lessons learned from lack of a muscle-specific long isoform of GFPT1 Presentation Number: C09.5 |
Alexander Blakes (Manchester, United Kingdom)
| A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Presentation Number: C20.5 |
Dmitrii Smirnov (Munich, Germany)
| Integration of RNA-seq functional evidence into the ACMG/AMP variant interpretation framework Presentation Number: C22.5 |
Isabelle Oberlé Award | |
Juliet Hampstead (Nijmegen, Netherlands)
| Identifying disorder-specific DNA methylation signatures in patients with severe developmental disorders Presentation Number: C11.4
|
Lodewijk Sandkuijl Award | |
Sven Erik Ojavee (Lausanne, Switzerland)
| Estimating age-specific genetic effects for age-at-onset phenotypes Presentation Number: C12.2 |
Vienna Medical Academy Award | |
Ricardo Moreno Traspas (Singapore, Singapore)
| Loss of FOCAD, operating in the SKI mRNA surveillance pathway, is responsible for a syndromic form of pediatric liver cirrhosis Presentation Number: C10.5 |
Mia Neri Award | |
Fabienne Meier-Abt (Schlieren, Switzerland)
| How protein expression links somatic mutations to tumor phenotypes in chronic lymphocytic leukemia Presentation Number: C24.4 |
ELPAG Young Investigator Award | |
Maria Siermann (Leuven, Belgium)
| Preimplantation genetic testing for polygenic conditions (PGT-P): perspectives of healthcare professionals Presentation Number: C06.5 |
ESHG Poster Awards | |
Selina Hölzel (Bonn, Germany)
| Disruption of zfhx4 leads to defects in zebrafish craniofacial development matching human characteristics of nonsyndromic cleft lip with cleft palate Presentation Number: P05.001.B (Best Poster in Basic Research) |
Laurens Hannes (Leuven, Belgium)
| Differential alternative splicing analysis to link variation in ZRSR2 to a novel syndrome with oral, digital and brain anomalies Presentation Number: P12.026.D (Best Poster in Clinical Research) |
Poster Award Finalists | |
Elisa Cali (London, United Kongdom)
| Loss of C-terminal Mediator Complex subunit-11 impairs fetal brain development and cause severely progressive neurodegeneration Presentation Number: P10.083.B
|
Marie-Claire Cornips (Utrecht, Netherlands)
| Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature Presentation Number: P12.005.C
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Clare Benson (London, United Kingdom)
| Investigating Rho dysregulation in Adams-Oliver syndrome as a model of vascular development Presentation Number: P12.007.A
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Mattia Cordioli (Helsinki, Finland)
| Genetic and environmental determinants of drug adherence Presentation Number: P19.012.C
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Nikoletta Papaioannou (Nicosia, Cyprus)
| Genome editing for beta-haemoglobinopathies without double-strand DNA cleavage Presentation Number: P22.008.C
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European Human Genetics Conference 2021
Early Career Awards for Outstanding Science | |
Ryan Collins (Boston, United States) | A cross-disorder dosage sensitivity map of the human genome Presentation Number: PL2.3 |
Jack Collier (Newcastle, United Kingdom) | Biallelic ATG7 variants impair autophagy leading to neurological disease Presentation Number: PL2.4 |
Amal Elfatih (Doha, Qatar) | Analysis of medically actionable variants in the 59 ACMG genes using 6045 whole genomes from the Qatar Genome Program Presentation Number: C25.5 |
Artem Kim (Rennes, France) | How silence shapes the brain: synonymous variants alter codon usage and translation of Sonic Hedgehog in holoprosencephaly Presentation Number: C24.2 |
Lore Pottie (Ghent, Belgium) | Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome Presentation Number: C08.2 |
Isabelle Oberlé Award | |
Jeshurun Kalanithy (Bonn, Germany) | Monoallelic variants in TFAP2E cause central nervous system and craniofacial anomalies Presentation Number: C16.3 |
Lodewijk Sandkuijl Award | |
Chiara Auwerx (Lausanne, Switzerland) | The impact of copy number variants on complex human traits Presentation Number: C03.5 |
Vienna Medical Academy Award | |
Dieter Tulkens (Ghent, Belgium) | Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner’s Syndrome Presentation Number: C20.2 |
Mia Neri Award | |
Thorben Huth (Heidelberg, Germany) | Investigation of tumor suppressor gene loss on chromosome 8p in hepatocellular carcinoma using chromosome editing Presentation Number: C20.4 |
ELPAG Young Investigator Award | |
Tatiane Yanes (Brisbane, Australia) | Breast cancer polygenic risk scores: A 12-month prospective study of patient reported outcomes and risk management behaviour Presentation Number: C12.5 |
ESHG Poster Awards | |
Sodbo Sharapov (Novosibirsk, Russia) | Meta-analysis of genome-wide association studies for N-glycosylation in 10,000 individuals Presentation Number: P24.017.D (Best Poster in Basic Research) |
Jet van der Spek (Nijmegen, Netherlands) | Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome Presentation Number: P08.015.A (Best Poster in Clinical Research) |
Poster Award Finalists | |
James Fasham (Exeter, United Kingdom) | SCN9A gene variants do not cause monogenic epilepsy in humans Presentation Number: P09.048.A |
Janna Hol (Utrecht, Netherlands) | High rate of (epi)genetic predisposing factors and an important role for DIS3L2 in a nationwide Wilms tumor cohort Presentation Number: P12.201.A |
Jeroen Smits (Nijmegen, Netherlands) | A RIPOR2 in frame deletion is a frequent and highly penetrant cause of adult onset hearing loss Presentation Number: P02.030.C |
Miguel Xavier (Newcastle upon Tyne, United Kingdom) | Are children born after medical assisted reproduction at greater risk of having an increased de novo mutation rate? Presentation Number: P01.040.D |
Hanna Zieger (Bonn, Germany) | Systematic analysis of non-coding de novo mutations from whole genome sequence data of triads with non-syndromic cleft lip with/without cleft palate Presentation Number: P04.064.A |
European Human Genetics Conference 2020
Early Career Awards for Outstanding Science | |
Karolis Šablauskas | Improved de novo mutation detection through deep learning Presentation Number: C03.2 |
Diewertje Houtman | Public attitudes towards human germline gene editing: A baseline survey in the Netherlands Presentation Number: C07.5 |
Zhongbo Chen (London, United Kingdom) | Human-lineage-specific genomic elements are enriched within genes implicated in neurodegenerative diseases Presentation Number: C20.5 |
Cesar Prada-Medina | Transcriptional single-cell atlas of human limb malformation candidate genes Presentation Number: C29.4 |
Aude Beyens (Ghent, Belgium) | Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia Presentation Number: C29.3 |
Isabelle Oberlé Award | |
Eva D'haene (Gent, Belgium) | Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders |
Lodewijk Sandkuijl Award | |
Liza Darrous (Lausanne, Switzerland) | Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics Presentation Number: C21.5 |
Vienna Medical Academy Award | |
Huiwen Che (Leuven, Belgium) | Non-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA Presentation Number: C01.5 |
Mia Neri Award | |
Marie Coutelier (Montreal, Canada) | When the silent genome gets loud: transcription of repeated genomic elements at the single-cell resolution in K27M-mutated high-grade gliomas Presentation Number: C13.3 |
ELPAG Young Investigator Award | |
Rowan Forbes Shepherd (Melbourne, Australia) | Negotiating autonomy and interdependence with family: how young people and health professionals navigate genetic testing for Li-Fraumeni syndrome Presentation Number: C23.4 |
ESHG Poster Awards | |
Anouk Verboven (Nijmegen, Netherlands) | MEA-seq for combined gene expression and neuronal network measurements in iPSC-derived neurons from Koolen-de Vries patients Presentation Number: P08.072.C (Best Poster in Basic Research) |
Sabrina Mechaussier (Paris, France) | Loss of function of RIMS2, a synaptic membrane exocytosis gene, causes a new phenotype characterized by congenital cone-rod synaptic disease associated with neurodevelopmental and pancreatic involvement Presentation Number: P02.68.A (Best Poster in Clinical Research) |
Poster Award Finalists | |
Mariël Teunissen (Maastricht, The Netherlands) | De novo loss of function mutations in ANK2 cause a neurodevelopmental disorder with autism and early onset epilepsy |
Hila Fridman (Jerusalem, Israel) | The landscape of autosomal-recessive pathogenic variants in the European population Presentation Number: P19.014.C |
Elena Bernabeu (Midlothian, United Kingdom) | Widespread sexual differences in genetic architecture in UK Biobank |
Shuang Li (Groningen, The Netherlands) | Leveraging a co-methylation network to predict regulatory effects of DNA methylation sites and human phenotypes |
Paria Torbati (Mashhad, Iran) | A treatable hereditary polyneuropathy due to impaired Vitamin B6 metabolism |
European Human Genetics Conference 2019
Young Investigator Awards for Outstanding Science | |
Lila Allou (Berlin, Germany) | Loss of MAENLI, a newly characterized lncRNA, results in limb specific inactivation of EN1 and a dorsal dimelia limb phenotype Presentation Number: PL2.5 |
Natalia Mendoza Ferreira (Cologne, Germany) | Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy Presentation Number: C20.2 |
Manon Oud (Nijmegen, The Netherlands) | Exome sequencing reveals de novo mutations and deletions in severe idiopathic male infertility Presentation Number: C04.4 |
Lot Snijders Blok (Nijmegen, The Netherlands) | De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder Presentation Number: C12.3 |
Arthur Sorlin (Dijon, France) | Genetic basis of mosaic pigmentary disorders of the skin and how to detect them: the M.U.S.T.A.R.D. cohort’s experience Presentation Number: C24.5 |
Isabelle Oberlé Award | |
Lisanne Vervoort (Leuven, Belgium) | Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability |
Lodewijk Sandkuijl Award | |
Tom Richardson (Bristol, United Kingdom) | A transcriptome-wide Mendelian randomization study to uncover tissuedependent regulatory mechanisms across the human phenome Presentation Number: C25.1 |
Vienna Medical Academy Award | |
Uira Melo (Berlin, Germany) | Chromosome conformation capture (HiC) combined with whole genome sequencing for the detection and functional interpretation of complex genomic rearrangements in developmental disease Presentation Number: C01.3 |
Mia Neri Award | |
Rita Barbosa-Matos (Porto, Portugal) | Structural variations at CDH1 intronic cis-regulatory elements cause CDH1/E-cadherin loss of function Presentation Number: C17.3 |
ELPAG Young Investigator Award | |
Danya Vears (Parkville, Australia) | Genetic health professionals’ experiences returning results from diagnostic genomic sequencing to patients Presentation Number: C22.2 |
ESHG Poster Awards | |
Ronja Hollstein (Bonn, Germany) | Identification and characterization of microRNA-149, a candidate for orofacial clefting Presentation Number: P04.41A (Best Poster in Basic Research) |
Guillaume Jouret (Reims, France) | Understanding microcephaly/macrocephaly mechanisms in the new 19p13.3 microduplication/microdeletion syndrome Presentation Number: P11.03C (Best Poster in Clinical Research) |
Poster Award Finalists | |
Bettina Zimmermann (Basel, Switzerland) | Most issues covered but not in their full complexity: a newspaper content analysis of ethical issues in predictive genetic testing |
Heidi Marjonen (Helsiniki, Finland) | SEC31A mutation affects ER homeostasis, causing neurological syndrome |
Daniel Halperin (Beer-Sheva, Israel) | Genomics as a personalized medicine approach in disease risk prediction - P5.fi FinHealth |
Alba Sanchis-Juan (Cambridge, United Kingdom) | Comprehensive rare variant analysis of individuals with neurodevelopmental disorders by whole-genome sequencing |
Pauline Schneeberger (Hamburg, Germany) | Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome |
European Human Genetics Conference 2018
Young Investigator Awards for Outstanding Science | |
Dylan de Vries (Groningen, The Netherlands) | Personalized co-expression networks reveal genetic risk factors that change the regulatory wiring of cells Presentation Number: C04.3 |
Ilaria Parenti (Lübeck, Germany) | Novel gene and pathomechanism in Cornelia de Lange syndrome Presentation Number: C15.2 |
Shruti Singla (Cambridge, United Kingdom) | Elimination of aneuploid cells in the early mammalian embryo Presentation Number: PL2.3 |
Laura Vandervore (Brussels, Belgium) | Rotatin mutations impair bipolar mitotic spindle formation leading to a wide spectrum of brain malformations Presentation Number: C17.2 |
Isabelle Oberlé Award | |
Sara Reynhout (Leuven, Belgium) | De novo mutations affecting PPP2CA, encoding the catalytic C? subunit of PP2A, cause PP2A dysfunction and a neurodevelopmental disorder |
Lodewijk Sandkuijl Award | |
Eleonora Porcu (Lausanne, Switzerland) | Mendelian randomization combining GWAS and eQTL data reveals new loci, extensive pleiotropy and genetic determinants of complex and clinical traits Presentation Number: C21.2 |
Vienna Medical Academy Award | |
John McDermott (Manchester, United Kingdom) | Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy Presentation Number: C08.2 |
EMPAG Young Investigator Award | |
Julia el Mecky (Groningen, The Netherlands) | Disclosure of incidental findings (IFs) and variants of uncertain significance (VUS) to patients: what happens in practice? Presentation Number: EPL5.5 |
ESHG Poster Awards | |
Christina Paliou (Berlin, Germany) | A CTCF- dependent chromatin interaction ensures robust enhancer - promoter communication at the Shh locus Presentation Number: P17.58B (Best Poster in Basic Research) |
Luzia Garrido (Porto, Portugal) | Genetic counselling in hereditary diffuse gastric cancer: economical and psycho-social impact Presentation Number: P19.24D (Best Poster in Clinical Research) |
Poster Award Finalists | |
Vincent Gatinois (Montpellier, France) | Pathologies of helicases and premature ageing: study by derivation of induced pluripotent stem cells |
Alexander Kurilshikov (Groningen, The Netherlands) | MiBioGen: a new consortium for meta-analysis of human genome-microbiome association |
Ana Rita Marques (Lisbon, Portugal) | miRNA and lncRNA gene variants in Autism Spectrum Disorder |
Mauro Pala (Cagliari, Italy) | The eQTLs Catalog and LinDA browser: a platform for prioritising target genes of GWAS variants |
Elke van Veen (Manchester, United Kingdom) | Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer |
European Human Genetics Conference 2017
Young Investigator Awards for Outstanding Science | |
Miriam Bauwens (Ghent, Belgium) | Hidden genetic variation in Stargardt disease: novel copy number variations, cis-regulatory and deep-intronic splice variants of the ABCA4 locus Presentation Number: C11.5 |
Magdalena Socha (Poznan, Poland) | A 10q24.32 duplication causes bilateral femoral hypoplasia through formation of a novel sub-TAD Presentation Number: C05.4 |
Anja J. Will (Berlin, Germany) | Enhancer composition and dosage control developmental gene expression Presentation Number: PL2.1 |
Norine Voisin (Lausanne, Switzerland) | Variants in the degron motif of AFF3 cause a multi-system disorder with skeletal dysplasia and severe neurologic involvement Presentation Number: C20.3 |
Isabelle Oberlé Award | |
Patrick Short
| De novo mutations in regulatory elements cause neurodevelopmental disorders |
Lodewijk Sandkuijl Award | |
Rufus Cartwright (London, United Kingdom) | Genome wide association study identifies two novel loci associated with female stress and urgency urinary incontinence Presentation Number: C18.4 |
Vienna Medical Academy Award | |
Svenja Schneider (Cologne, Germany) | Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy Presentation Number: C08.2 |
Mia Neri Award | |
Judith E. Grolleman (Nijmegen, The Netherlands) | A somatic mutational signature in different tumor types associated with biallelic germline NTHL1 mutations Presentation Number: C17.4 |
ESHG Poster Awards | |
Alexis Cooper | Characterization of the expression of the imprinted Kcnk9-gene in specific brain regions and the phenotypic analysis of Kcnk9-knockout mice Presentation Number: P17.01A |
Lara Rodriguez Laguna (Madrid, Spain) | Somatic activating PIK3CA mutations cause CLAPO syndrome Presentation Number: P11.001A |
Poster Award Finalists | |
Svenja Kohler (Lübeck, Germany) | Col6A2 p.G283E: antisense-induced mRNA knockdown as a possible treatment strategy |
Tessa van Dijk (Amsterdam, The Netherlands) | Mutations in CoA Synthase cause pontocerebellar hypoplasia |
Renata Bordeira-Carriço (Porto, Portugal) | Unveiling the regulatory landscapes of genes involved in pancreatic cancer using a zebrafish model |
Rodrigo C. Almeida (Curitiba, Brazil) | Integrative approach and eQTL analysis identify breast cancer risk genetic variants affecting microRNA binding sites |
Pierre Vabres (Dijon, France) | Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome |
European Human Genetics Conference 2016
Young Investigator Awards for Outstanding Science | |
Emma Wade (Dunedin, New Zealand) | Mutations in MAP3K7 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia Presentation Number: C12.1 |
Jelena Pozojevic (Lübeck) | Loss of a non-coding regulatory element on chromosome 9 in a family with a Cornelia de Lange syndrome (CdLS)-like phenotype Presentation Number: C12.4 |
Rocio Acuna-Hidalgo (Nijmegen) | Genetic and functional comparison of identical germline and somatic SETBP1 mutations Presentation Number: C12.6 |
Martin Mensah (Berlin) | Image analysis of patients with dysmorphic facial features boosts diagnostic yield in exome studies Presentation Number: C07.2 |
Isabelle Oberlé Award | |
Maria Nicla Loviglio
| A potential role for the linker for activation of T-cells (LAT) in the neuroanatomical phenotype of the 220kb 16p11.2 BP2-BP3 CNVs |
Lodewijk Sandkuijl Award | |
Sina Rüeger (Lausanne) | Summary statistic imputation method enables conditional analysis across meta-analysis studies: Application to GIANT height associations from exome-chip & HapMap Presentation Number: C08.3 |
Vienna Medical Academy Award | |
Michael Parks (Birmingham) | Validation of non-invasive prenatal diagnosis (NIPD) of multiple single gene disorders for clinical implementation Presentation Number: C13.1 |
Mia Neri Award | |
Barbara Rivera (Montreal, CA) | Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors Presentation Number: C05.1 |
ESHG Poster Awards | |
Dragana Vuckovic | Unravelling human complex traits: the case of hearing function and age related hearing loss Presentation Number: P02.09A |
Maarten Massink (Utrecht) | Loss-of-Function mutations in the WNT co-receptor LRP6 cause autosomal-dominant oligodontia Presentation Number: P04.070B |
Poster Award Finalists | |
Mattia Bosio (Barcelona) | GEUVADIS European Exome Variant Server: Variant allele frequency aggregation from multicentre, access-restricted data |
Tim Van Damme (Ghent) | Mutations in the E subunit of the vacuolar ATPase complex cause a novel type of autosomal recessive cutis laxa |
Omar Soukarieh (Rouen) | Functional assays and bioinformatics predictions reveal a high contribution of splicing mutations in the most frequent forms of hereditary cancer |
Eva De Vilder (Ghent) | Rare modifier variants alter the severity of cardiovascular disease in Pseudoxanthoma Elasticum |
Lara Rodriguez Laguna (Madrid) | Genetic and genomic analysis in patients affected by Gorham-Stout disease and general lymphatic anomalies |
European Human Genetics Conference 2015
Young Investigator Awards for Outstanding Science | |
Anne Guimier (Paris) | Recessive mutations in matrix metallopeptidase 21 (MMP21) cause heterotaxy in humans Presentation Number: C05.5 |
Darío Lupiáñez (Berlin) | Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions Presentation Number: PL2.4 |
Emma Baple (Southampton) | Homozygous truncating mutations in WDR73 cause a severe nephrocerebellar syndrome, part of the Galloway Mowat syndrome spectrum Presentation Number: C23.4 |
Julie Rutten (Leiden) | Cysteine Correction of NOTCH3: exon skipping as a potential therapeutic strategy for CADASIL Presentation Number: C10.5 |
Isabelle Oberlé Award
| |
Dorien Haesen
| De novo and recurrent PPP2R5D and PPP2R1A missense mutations cause protein phosphatase 2A dysfunction and intellectual disability |
Lodewijk Sandkuijl Award | |
Peter Joshi (Edinburgh) | Evidence for directional dominance on complex traits relating to size and cognition in a wide range of human populations Presentation Number: C22.6 |
Vienna Medical Academy Award | |
Michael Parks (Birmingham) | Non-invasive prenatal diagnosis (NIPD) of Duchenne and Becker muscular dystrophies (DMD/BMD) by relative haplotype dosage Presentation Number: C01.4 |
Mia Neri Award | |
Marjolijn Jongmans (Nijmegen) | High yield of causative mutations by whole exome sequencing in selected individuals with childhood cancer Presentation Number: C09.4 |
ESHG Poster Awards | |
Caroline Biagosch (Neuherberg) | Fast and effective genome editing to study dominant de novo mutations: the WDR45 example Presentation Number: PM08.70 |
Sanne D'hondt (Ghent) | Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development Presentation Number: P04.76 |
Poster Award Finalists | |
Letizia Straniero (Rozzante) | The plant cytokine kinetin as a potential therapeutic agent to correct CFTR splicing defects Presentation Number: PM15.20 |
Caroline Van Cauwenbergh (Ghent) | SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein Presentation Number: PS02.05 |
Andrea Deutschmann (Innsbruck) | Impaired mitochondrial RNA processing in HSD10 disease Presentation Number: PM06.22 |
Delfien Syx (Ghent) | Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis Presentation Number: PS04.23 |
Eliška Holzerová (Neuherberg) | Thioredoxin 2 deficiency causes early-onset neurodegeneration Presentation Number: PM06.66 |
European Human Genetics Conference 2014
Young Investigator Awards for Outstanding Science | |
Laura M. Huckins (Hinxton) | Polygenic risk score analysis shows shared genetic aetiology between AN and five other psychiatric disorders Presentation Number: C11.2 |
Danit Oz-Levi (Rehovot) | Deletion of a distant-acting enhancer near C16ORF91 underlies recessive congenital diarrhea Presentation Number: C17.4 |
Marije Meuwissen (Rotterdam) | Interferon type 1 response regulator USP18 is mutated in severe pseudo-TORCH syndrome Presentation Number: C15.4 |
Sofie Symoens (Ghent) | Defects in TAPT1, involved in Axial Skeletal Patterning, Cause a Complex Lethal Recessive Disorder of Skeletal Development Presentation Number: C10.5 |
Isabelle Oberlé Award | |
Christian Gilissen
| Genome sequencing identifies major causes of severe intellectual disability |
Lodewijk Sandkuijl Award | |
Jessica van Setten (Utrecht) | Genome of the Netherlands imputation identifies seven new loci for quantitative ECG traits in meta-analysis of 30,000 samples Presentation Number: C14.2 |
Vienna Medical Academy Award | |
Nathalie Brison (Leuven) | Clinical implementation of non-invasive prenatal aneuploidy detection Presentation Number: C01.1 |
ESHG Poster Awards | |
Loredana Poeta (Naples) | Functional studies of ARX mutants linked to neurophenotypes and Application of rescue strategies targeting KDM5C down-regulation Presentation Number: P08.10 |
Victoria E. R. Parker (Cambridge) | A spectrum of disorders are associated with somatic mutations in PIK3CA, encoding the p110? catalytic subunit of phosphatidylinositol-4,5-bisphosphate 3-kinase Presentation Number: P04.52 |
Poster Award Finalists | |
Francesca Bianco (Bologna) | New genetic abnormalities underlying chronic intestinal pseudo-obstruction (CIPO) Presentation Number: P03.12 |
Julien Thevenon (Dijon) | Exome sequencing reveals mutations of a solute carrier gene in an autosomal recessive form of epileptic encephalopathy of the first days of life Presentation Number: P09.051 |
Danielle G. M. Bosch (Nijmegen) | NR2F1 mutations cause optic atrophy with intellectual disability Presentation Number: P08.18 |
Sumitra Mohan (Graz) | Development of Acquired Resistance to Anti-EGFR Therapy in Colorectal Cancer Identified by Whole-Genome Plasma DNA Sequencing Presentation Number: P12.114 |
Richarda M. de Voer (Nijmegen) | Identification of novel candidate genes for early-onset colorectal cancer susceptibility Presentation Number: P12.040 |
European Human Genetics Conference 2013
Young Investigator Awards for Outstanding Science | |
Elisa Giorgio (Torino) | A large genomic deletion upstream of the lamin B1 gene (LMNB1) likely causes adult-onset autosomal dominant leukodystrophy due to alteration of the regulatory landscape of LMNB1 Presentation Number: C13.5 |
Marjorie Hubeau (Paris) | Ion transporter deficiency predisposes to pyogenic bacterial infection by partial oxidative burst defect in granulocytes Presentation Number: C14.6 |
Alessia Indrieri (Naples) | Mutations in nuclear-encoded components of mitochondrial respiratory chain complex III and IV cause apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates Presentation Number: C07.3 |
Vikram Sharma (Oxford) | Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis Presentation Number: PL2.1 |
Isabelle Oberlé Award | |
Marjolein H. Willemsen
| GATAD2B loss-of-function mutations cause a recognizable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila |
Lodewijk Sandkuijl Award | |
Pier Francesco Palamara (New York City) | Haplotype sharing reveals fine-scale demographic history Presentation Number: C09.2 |
Vienna Medical Academy Award | |
Joep de Ligt (Nijmegen) | Detection of clinically relevant copy number variants with whole exome sequencing Presentation Number: C15.6 |
ESHG Poster Awards | |
Sandrina Turczynski (Paris) | Antisense mediated exon skipping gene therapy for dystrophic epidermolysis bullosa Presentation Number: P01.117 |
Jamal Ghoumid (Créteil) | ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome Presentation Number: P02.100 |
Poster Award Finalists | |
Pauline Krug (Paris) | Targeted “ciliome” sequencing for gene identification in nephronophthisis and associated ciliopathies Presentation Number: P13.57 |
Tessel Rigter (Amsterdam) | Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics Presentation Number: P18.52 |
Xavier Gérard (Paris) | Antisense oligonucleotide-mediated exon skipping to treat 10% of Leber congenital amaurosis cases Presentation Number: P03.36 |
Siew-Kee Low (Tokyo) | The genetic study of intracranial aneurysm in the Japanese population Presentation Number: P01.017 |
European Human Genetics Conference 2012
Young Investigator Awards for Outstanding Science | |
Malte Spielmann | Arm to Leg Transformation in Humans associated with CNVs at the PITX1 locus |
Nady El Hajj | Metabolic reprogramming of the epigenome by intrauterine exposure to gestational diabetes |
Hélène Louis dit Picard | KLHL3 and Cullin-3 mutations cause Familial Hyperkalemic Hypertension by impairing ion transport in the distal nephron |
Cédric Howald | The ENCODE effort combining RNA-seq and RT-PCR-seq allows to catalog thousands of novel lncRNAs |
Isabelle Oberlé Award | |
Marjolein H. Willemsen | Identification and characterization of genetic disorders with ID in diagnostics and diagnostic related research |
Lodewijk Sandkuijl Award | |
Lars G. Fritsche | Seven New Loci Associated with Age-Related Macular Degeneration |
Vienna Medical Academy Award
| |
Lutz Garbes | SMA patients show concordant responses to valproic acid from blood to neurons while nonresponsivness is facilitated by CD36 |
ESHG Poster Awards | |
Simone Berkel (Heidelberg) | Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology |
Miriam Schmidts (London) | Mutations in a novel dynein assembly factor PF22 (DNAAF3) cause cilia dysmotility and left-right-axis defects |
Poster Award Finalists | |
Melanie Hambrock (Berlin) | The atypical Rett-syndrome protein CDKL5 promotes excitatory synapse formation by strengthening the interaction between NGL-1 and the postsynaptic scaffold protein PSD95 P12.042 |
Daria Witt (Göttingen) | Valproic acid achieves its anticancer activity by re-expression of cyclin D2 P06.213 |
Walter Pulverer (Vienna) | Exploring the methylome of thyroid cancer at single C resolution: From screening to clinical diagnostics P06.207 |
M.Reza R. Sailani (Geneva) | Identifying genetic determinants of congenital heart defect in Down syndrome P08.11 |
European Human Genetics Conference 2011
Young Investigator Awards for Outstanding Science | |
Hugo Prazeres | Chromosomal, epigenetic and microRna-mediated inactivation of LRP1B, a modulator of the extracellular environment of thyroid cancer cells |
Marjolijn Jongmans | Revertant somatic mosaicism in Dyskeratosis Congenita by mitotic recombination |
Jovana Serbanovic-Canic | Functional validation of GWAS loci for platelet traits in Danio rerio reveals new regulators of haematopoiesis |
Heleen Arts | Sensenbrenner syndrome is caused by dysfunctional IFT-A mediated retrograde transport in the cilium |
Isabelle Oberlé Award | |
Audrey Letourneau | mRNA-Seq analysis of monozygotic twins discordant for Trisomy 21 reveals large chromosomal domains of gene expression dysregulation |
Lodewijk Sandkuijl Award | |
Mark McCormack | HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans |
ESHG Poster Awards | |
Veronique Adoue | Human cis-regulatory SNPs (cis-SNPs) altering transcription factors binding and gene expression |
Mike Gerards | Riboflavin responsive OXPHOS complex I deficiency caused by defective ACAD9: new function for an old gene |
Poster Award Finalists | |
Siddharth Banka (Manchester) | Identification and characterization of a novel inborn error of metabolism caused by Dihydrofolate reductase deficiency P13.08 |
Giorgia Girotto (Trieste) | A genome-wide association study in European isolated populations identifies new loci and pathways for hearing function, thresholds and age-related loss P08.42 |
Flore Zufferey (Lausanne) | Reciprocal extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus P02.003 |
Joana Carvalho (Porto) | MicroRNA-101 modulates E-cadherin expression and function through EZH2 up-regulation in gastric cancer P06.090 |
European Human Genetics Conference 2010
Young Investigator Awards for Outstanding Science | |
Louise Harewood | The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression |
Silke Nuber | Expression of Mutant A30P alpha-Synuclein in Conditional Mouse Brain: Implications for Early Stage of Parkinson's Disease |
Sabrina Carrella | The microRNA miR-204 is required for vertebrate eye development |
Olli Pietiläinen | Inverse mapping approach implies the role of large CNVs in intellectual deficits and learning difficulties in a population cohort |
Shushant Jain (Amsterdam) | Phenotypic modifiers of DJ1 Session: C04 Sensory Disorders and Neurobiology |
Isabelle Oberlé Award | |
Suleyman Gulsuner | Targeted next generation sequencing identifies a mutation associated with cerebellar hypoplasia and mental retardation with quadrupedal locomotion |
Lodewijk Sandkuijl Award | |
Gosia Trynka | Multiple common genetic variants for coeliac disease influencing immune gene expression |
ESHG Poster Awards | |
Emma Burkitt Wright | SHOC2 mutations in patients with cardio-facio-cutaneous syndrome P02.036 |
Alev Erogullari | A functional link of DYT1 and DYT6 dystonia: Repression of TOR1A (DYT1) gene expression by the transcription factor activity of THAP1 (DYT6) |
European Human Genetics Conference 2009
Young Investigator Awards for Outstanding Science | |
Louise Harewood (Lausanne) | The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression |
Eva Klopocki (Berlin) | Duplication of conserved non-coding sequence elements - a novel mechanism in the pathogenesis of congenital malformations |
Lucia Micale (San Giovanni Rotondo) | TheTRIM8 gene is a novel player of p53 pathway |
Andrew Sharp (Geneva) | Methylation profiling in cases with uniparental disomy identifies novel imprinted genes on chromosome 15 |
Isabelle Oberlé Award | |
Sergio Sousa (Coimbra) | Nicolaides-Baraitser Syndrome - Delineation of the Phenotype |
Lodewijk Sandkuijl Award | |
Alexandra Zhernakova (Utrecht) | The common and specific genetic backgrounds of rheumatoid arthritis and celiac disease |
ESHG Poster Awards | |
V. M. Kalscheuer (Berlin) | Towards understanding the pathogenetic mechanism of PQBP1 mutations in X-linked mental retardation |
S. Manouvrier-Hanu (Lille) | Array-CGH analysis in a series of 54 index patients with limb malformation identified more than 10% anomalies |
European Human Genetics Conference 2008
Young Investigator Awards for Outstanding Science | |
Beatrice Bodega (Milan) | Polycomb complex shapes the higher order of D4Z4 chromatin structure during differentiation of normal and FSHD muscle stem cells |
Sandra Pasternack (Bonn) | G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth |
Annie Rebibo Sabbah (Haifa) | Evaluating suppression of nonsense mutations by aminoglycoside antibiotics as an intervention for vision loss in type I Usher syndrome |
Serena Sanna (Monserrato) | Genome-wide association scan for serum TSH levels in 2375 Sardinians |
Isabelle Oberlé Award | |
Florence Molinari (Paris) | Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation |
Lodewijk Sandkuijl Award | |
Erika Salvi (Milan) | Comparison of different methods to estimate genetic ancestry and control for stratification in genome-wide association studies |
ESHG Poster Awards | |
Imke Christiaans (Amsterdam) | The yield of cascade screening and risk stratification for sudden cardiac death in hypertrophic cardiomyopathy MYBPC3 gene mutation carriers |
Ana Isabel Vega (Milan) | Congenital Disorder of Glycosylation type Ia: antisense therapeutics for an intronic variation causing exonization of an intronic sequence |
European Human Genetics Conference 2007
Young Investigator Awards for Outstanding Science | |
Julie Mollet (Paris) | Prenyldiphosphate synthase PDSS1 and OH-benzoate prenyltransferase COQ2 mutations in ubiquinin deficiency and oxidative phosphorylation disorders |
Zrinka Biloglav (Zagreb) | Epidemics of viral hemorrhagic fever in Medieval times as a possible selection pressure for CCR5del32 in Europe; new insights from Croatian island isolates |
Liat Linde (Jerusalem) | Nonsense-mediated mRNA decay regulates response of cystic fibrosis patients to gentamycin |
Emma N. Hilton (Manchester) | Left-sided embryonic expression of the BCL-6 corepressor BCOR, is required for vertebrate laterality determination |
Dagan Jenkins (Oxford) | RAB23 mutations in Carpenter syndrome imply an unexpected role for the Hedgehog signalling in cranial suture development and obesity |
Isabelle Oberlé Award | |
Frank J. Kaiser (Lübeck) | The cohesion protein NIPBL recruits histone deacetylases to mediate chromatin remodelling |
Lodewijk Sandkuijl Award | |
Vincent Plagnol (Cambridge) | A genome-wide assessment of the genetic basis of type 1 diabetes |
European Human Genetics Conference 2006
Young Investigator Awards for Outstanding Science | |
Carmine Settembre (Naples) | Life without sulfatases: exploiting a mouse model of multiple sulfatase deficiency |
Vladimir V. Strelnikov (Moscow) | Identification of methylation and expression abnormalities associated with breast cancer |
Anne Fechter (Heidelberg) | Targeted cloning of fragile sites - based on a previous tagging of fragile regions in a breast cancer cell line |
Ursula M. Smith (Birmingham) | The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome |
Isabelle Oberlé Award | |
Tjitske Kleefstra (Nijmegen) | Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome. |
Lodewijk Sandkuijl Award | |
Samuel Deutsch (Geneva) | Quantitative mapping of loci influencing susceptibility to lentiviral infection |
Christoph Lange (Boston, MA) | Screening and replication using the same data set: A testing strategy for case/control studies |
European Human Genetics Conference 2005
Young Investigator Awards for Outstanding Science | |
Silvia Paracchini (Oxford) | Chromosome 6p22 risk haplotype for dyslexia is associated with a reduced expression of KIAA0319 gene |
William J. Tapper (Southampton) | The first genome wide linkage disequilibrium map |
Aida I. Al-Aqeel (Riyadh) | Ethics and Genetics: An Islamic Perspective |
Isabelle Oberlé Award | |
Bartlomiej Budny (Berlin/Poznan) | A new XLMR syndrome characterized by mental retardation, primary ciliary dyskinesia and macrocephaly, caused by a novel mutation in OFD1 |
Lodewijk Sandkuijl Award | |
Aaron Isaacs (Rotterdam) | Plasma lipids: heritabilities, apoE, and effects of inbreeding in a genetically isolated population |
European Human Genetics Conference 2004
Young Investigator Awards for Outstanding Science | |
Ernie Bongers (Nijmegen) | Mutations in the human TBX4 gene cause small patella syndrome |
Hilde Peeters (Leuven) | PA26 is a candidate gene for human heterotaxia |
Aurora Pujol (Strasbourg) | Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-linked adrenoleukodystrophy |
Nitin Sabherwal (Heidelberg) | Novel point mutations R173C and A170P in the SHOX homeodomain defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia |
Birgit Zirn (Giessen) | Expression profiling of Wilms tumors reveals novel prognostic markers |
Isabelle Oberlé Award | |
Gajja Salomons (Amsterdam) | High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome |
Lodewijk Sandkuijl Award | |
Manuel A. R. Ferreira (Brisbane) | Accounting for strong age-specific sex-limitation in IgE QTL linkage analysis |
European Human Genetics Conference 2003
Young Investigator Awards for outstanding science | |
Slawomir Wisniewski (Poznan) | Mutations of EDA, EDARADD and TRAF6 genes in anhidrotic ectodermal dysplasia genotype/phenotype correlation. |
Michel De Vos (Leeds) | PMS2 mutation as a cause of primitive neuroectodermal tumours of childhood |
Martine J. van Belzen (Utrecht) | A major non-HLA locus in coeliac disease maps to chromosome 19 |
Isabelle Oberlé Award | |
Joris A. Veltman (Nijmegen) | High resolution whole genome microdeletion screening by array CGH |
European Human Genetics Conference 2002
Young Investigator Awards for outstanding science | |
John Common (London) | Genetic and functional analysis of connexins in skin disease and deafness |
Heymut Omran (Freiburg) | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry |
Richard Redon (Illkirch) | Cyclin L/Ania-6a, a gene located at 3q25, is amplified and overexpressed in a head and neck cancer cell line |
Isabelle Oberlé Award | |
Florence Molinari (Paris) | Mutation in Neurotrypsin is responsible for autosomal recessive non-specific mental retardation |