4th International Caparica Conference in SPLICING 2021

26th – 29th July 2021 | Caparica | Portugal

Oral Speakers

Benjamin Lee, PhD

Affiliation: University of Exeter (United Kingdom)

Title: Negligible senescence in naked mole rats may be a consequence of well-maintained splicing regulation.

Francois Bordeleau, PhD

Affiliation: CRChu de Québec (HDQ) – Universite Laval (Canada)

Title: Tumor mechanics and alternative splicing: at the crossroad between regulation and adaptation.

Alexandra Filatova, PhD

Affiliation: Research Centre of Medical Genetics, Moscow (Russia)

Title: PAX6 5’-UTR mutations affecting splicing lead to a disruption of protein translation and cause Congenital aniridia.

Corinna Giorgi, PhD

Affiliation: European Brain Research Institute (Italy)

Title: Arc 3’UTR splicing leads to dual and antagonistic effects in fine-tuning Arc expression upon BDNF signaling.

Martin Schroeder, PhD

Affiliation: Durham University (United Kingdom)

Title: HAC1 splicing by the Ire1 endoribonuclease requires a negatively charged activation segment.

Nicola Jeffery, PhD

Affiliation: University of Exeter (United Kingdom)

Title: Cellular stressors may alter islet hormone cell proportions by moderation of alternative splicing patterns.

Penelope Morel, PhD

Affiliation: University of Pittsburgh (United States)

Title: Alternative splicing of CD247 plays a role in T cell development and activation.

Tal Shay, PhD

Affiliation: Ben-Gurion University of the Negev (Israel)

Title: The splicing program of the immune system.

Olivier Pardo, PhD

Affiliation: Imperial College (United Kingdom)

Title: hnRNPA1 promotes cancer progression in response to FGF2 signalling.

Kristel Sleegers, PhD

Affiliation: VIB-UAntwerp Center for Molecular Neurology (Belgium)

Title: Splicing of ABCA7 and risk of Alzheimer’s disease.

Julia E. Weigand, PhD

Affiliation: Technische Universität Darmstadt (Germany)

Title: Muscleblind-like 2 controls the hypoxia response of cancer cells.

Veronica Arora, PhD

Affiliation: Institute of Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi (India)

Title: The first case of antenatal presentation in COG related Congenital Disorders of Glycosylation: a novel splice site mutation.

Eduardo Eyras, PhD

Affiliation: Australian National University (Australia)

Title: Unshackling transcriptomes from genome references.

Eiichi Saitoh, PhD

Affiliation: Graduate School of Technology, Niigata Institute of Technology (Japan)

Title: Expression of proline-rich proteins, P-B1, P-B, and BPLP, the parent proteins of opiorphin family, in human saliva.

Enrico Schleiff, PhD

Affiliation: Goethe University & FIAS (Germany)

Title: Splicing as central regulatory element of the plant heat stress response.

Mubeen Khan, PhD

Affiliation: Radboud university medical center, Nijmegen (Netherlands)

Title: Non-coding (splice) variants resolve the missing heritability in ABCA4-associated Stargardt disease.

Maayan Salton, PhD

Affiliation: Hebrew University (Israel)

Title: KDM3A regulates alternative splicing of cell-cycle genes following DNA damage.

Steven Fisher, PhD

Affiliation: University of Maryland School of Medicine (United States)

Title: Alternative splicing determines vascular smooth muscle function: Focus on myosin phosphatase splice variants and their targeting for therapeutic gain.

Luciana Haddad, PhD

Affiliation: Universidade de São Paulo (Brazil)

Title: Human DNA variants affecting pre-mRNA splicing: an NGS perspective.

Tracy Kress, PhD

Affiliation: The College of New Jersey (United States)

Title: Acetylation of Histones H4 and H2A.Z by the NuA4 acetyltransferase is Required for Appropriate RNA Splicing in Saccharomyces cerevisiae.

Giulia Fontemaggi, PhD

Affiliation: Oncogenomic and Epigenetic Unit, IRCCS Regina Elena National Cancer Institute (Italy)

Title: The ID4/mutant p53 protein complex enhances proliferation of breast cancer cells through the modulation of alternative splicing.

Beverly Chilton, PhD

Affiliation: Texas Tech University HSC (United States)

Title: Alternative splicing of helicase-like transcription factor (Hltf) promotes immune tolerance in murine placenta.

Wei Guo, PhD

Affiliation: University of Wisconsin-Madison (USA)

Title: Ribonucleoprotein (RNP) aggregation promotes high mortality rate at younger age in RBM20 mutation knock-in mice.

Dmitri Pervouchine, PhD

Affiliation: Skolkovo Institute of Science and Technology (Russia)

Title: Global cross-regulatory network couples the expression and alternative splicing of RNA-binding proteins by nonsense-mediated mRNA decay.

Sandra Cooper, PhD

Affiliation: The University of Sydney; The Children’s Hospital at Westmead; The Children’s Medical Research Institute (Australia)

Title: Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Yuichi Shiraishi, PhD

Affiliation: National Cancer Center (Japan)

Title: An atlas of intron retention associated variants collected by cloud-based transcriptome analysis platform.

Logan Walker, PhD

Affiliation: University of Otago (New Zealand)

Title: Assessment of cancer susceptibility gene mRNA splicing with implications for variant classification.

Takuro Miyazaki, PhD

Affiliation: Showa University (Japan)

Title: Defective exon junction complex disturbs cholesterol handling in macrophages thereby exacerbating atherosclerosis.

Mihwa Lee, PhD

Affiliation: La Trobe University (Australia)

Title: Cytoplasmic accumulation of the RNA-binding protein SFPQ by zinc-induced polymerization.

Shalini Sharma, PhD

Affiliation: University of Arizona, College of Medicine-Phoenix (United States)

Title: Impact of Splicing Factor Mutations on Human Hematopoietic Stem and Progenitor Cells.

Dorota Kaminska, PhD

Affiliation: Institute of Public Health and Clinical Nutrition, University of Eastern Finland (Finland)

Title: Obesity and weight loss-related alternative splicing in adipose tissue.

Nicolas Wein, PhD

Affiliation: The Ohio State University (USA)

Title: AAV.U7 induced exon skipping for two mutational hotspots of the DMD gene (~6%) results in efficient exon skipping, protein restoration and force improvement.

Jesús Valdés Flores, PhD

Affiliation: Departamento de Bioquímica, Centro de Investigación y de Estudios Avanzados (Mexico)

Title: Expression of splicing derived circular RNAs in virulent strains of the protozoan parasite Entamoeba histolytica.

Petra Kleiblova, PhD

Affiliation: Charles University, First Faculty of Medicine, Institute of Biology and Medical Genetics (Czech Republic)

Title: NGS-based analyses of RNA as a tool in oncogenetics.

Stephen M. Mount, PhD

Affiliation: Univ. of Maryland (United States)

Title: Mixture models reveal splicing signal subtypes.

Mikhail Skoblov, PhD

Affiliation: Laboratory of Functional Genomics, Research Centre for Medical Genetics (Russia)

Title: New mechanism of pathogenicity of inherited diseases caused by splicing abnormalities in the first untranslated exon.

Liliana Florea, PhD

Affiliation: Johns Hopkins University (United States)

Title: High performance tools for analysis of large collections of RNA-seq data.

Gustavo Bressan, PhD

Affiliation: Department of Biochemistry and Molecular Biology – Federal University of Viçosa (Brazil)

Title: Pharmacological intervention of splicing in cancer: targeting the serine/arginine protein kinases (SRPK) to control metastatic melanoma.

Patrick Burgon, PhD

Affiliation: Qatar University (Qatar)

Title: Avaliable soon.

Isaac Edery, PhD

Affiliation: Rutgers University (United States)

Title: Splicing of a thermosensitive intron influences midday siesta via trans-regulation of a nearby oppositely oriented gene.

Olga Anczukow-Camarda, PhD

Affiliation: The Jackson Laboratory for Genomic Medicine (USA)

Title: Misregulation of splicing factors in breast tumors.

Gabriella Esposito, PhD

Affiliation: Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples (Italy)

Title: A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

Yuanquan Song, PhD

Affiliation: University of Pennsylvania, The Children’s Hospital of Philadelphia (USA)

Title: “Repairing/splicing” axon regeneration.

Rama K. Kommagani, PhD

Affiliation: Washington University School of Medicine (USA)

Title: The Role of alternative splicing in endometrial cancer.

Achim Doerner, PhD

Affiliation: Merck Healthcare KGaA, Darmstadt (Germany)

Title: Protein trans splicing for bispecific antibody screening.

Alberto Giaretta, PhD

Affiliation: Department of Information Engineering, University of Padova (Italy)

Title: Mathematical modelling of the interconnection between transcriptional and splicing regulations.

Fabio Passetti, PhD

Affiliation: Instituto Carlos Chagas, FIOCRUZ, Curitiba (Brazil)

Title: The identification of orthologous proteoforms in the human and mouse brains.

Marianne Jonker, PhD

Affiliation: Radboud University Medical Center (The Netherlands) 

Title: Identifying splice-QTLs: modelling, testing and estimation.

Julie Atkin, PhD

Affiliation: Macquarie University Sydney (Australia)

Title: An alternative splicing mechanism generates novel translation initiation sites, producing a novel extracellular form of FUS in amyotrophic lateral sclerosis (ALS)/ motor neuron disease (MND).

Ivan Vikhlyantsev, PhD

Affiliation: Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences (Russia)

Title: Avaliable soon.

Grace Zhai, PhD

Affiliation: University of Miami Miller School of Medicine (USA)

Title: Avaliable soon.

Mariela Jaskelioff, PhD

Affiliation: Skyhawk Therapeutics (USA)

Title: Avaliable soon.

Oleg Tikhodeyev, PhD

Affiliation: Saint Petersburg State University (Russia)

Title: Avaliable soon.

Andrew Tobin, PhD

Affiliation: University of Glasgow (UK)

Title: Avaliable soon.

Towfique Raj, PhD

Affiliation: Icahn School of Medicine at Mount Sinai (USA)

Title: Avaliable soon.

Alexandra Filatova, PhD

Affiliation: Research Center for Medical Genetics, Moscow (Russian Federation)

Title: Experience in creation of minigene systems for analysis of splicing variants.

Terry Towlin, PhD

Affiliation: Coventry University (UK)

Title: Avaliable soon.

Montse Bach-Elias, PhD

Affiliation: CSIC (Spain)

Title: Avaliable soon.

Peter Jordan, PhD

Affiliation: National Health Institute Doutor Ricardo Jorge (INSA) (Portugal)

Title: Avaliable soon.

Katrin Beyer, PhD

Affiliation: Germans Trias i Pujol Research Institute (Spain)

Title: Complex splicing of the alpha-synuclein gene and its clinical meaning.



Title: Avaliable soon.

Eva Maria Matzhold, PhD

Affiliation: Medical University of Graz (Austria)

Title: Splice site mutations in the ABO gene affect the ABO blood group phenotype and bear a risk of ABO mistyping in the routine pre-transfusion testing.

Daria Gaykalova, PhD

Affiliation: University of Maryland (USA)

Title: Alternative Splicing Events in Head and Neck Squamous Cell Carcinoma.

Yvette Habraken, PhD

Affiliation: University of Liège (Belgium)

Title: Large scale spliceosome regulation by c-JUN direct binding to RBM39 following genotoxic stress.

Kathy Magnusson, PhD

Affiliation: Oregon State University (USA)

Title: Effects of ibuprofen on cognition and NMDA receptor splice variants across aging.

Alessandra Crisà, PhD

Affiliation: CREA – Consiglio per la ricerca in agricoltura e l’analisi dell’economia agraria (Italy)

Title: Identification of new splicing variants in genes for cattle milk oligosaccharides biosynthesis.

Maria Spletter, PhD

Affiliation: Ludwig Maximilian University of Munich (Germany)

Title: Rbfox1 is required for myofibril development and maintains fiber-type specific isoform expression in Drosophila muscles.

Chonghui Cheng, PhD

Affiliation: Baylor College of Medicine (USA)

Title: Avaliable soon.

Miriam Elena Cantero Guevara, PhD

Affiliation: University of Córdoba (Colombia)

Title: Purification of fibrinogen gamma A/gamma prima (γA/γ’) by fast protein liquid chromatography and its effect on fibrin polymerization.

Xin Wang, PhD

Affiliation: City University of Hong Kong (China)

Title: Avaliable soon.

Reut Shalgi, PhD

Affiliation: Technion Israel Institute of Technology (Israel)

Title: Stress-induced transcriptional readthrough into neighboring genes is linked to intron retention.

Yong Zhou, PhD

Affiliation: University of Alabama at Birmingham (USA)

Title: α6-Integrin Alternative Splicing: Distinct Cytoplasmic Variants in Stem Cell Fate Specification and Niche Interaction.

Fenghua Lan, PhD

Affiliation: Center for Genetic Medine, Dongfang Hospital, Xiamen University School of Medicine (China)

Title: The making of a single-gene transcriptome: alternative splicing of human FMR1 gene in peripheral blood.

Guido Hermey, PhD

Affiliation: Institute for Molecular and Cellular Cognition, Center for Molecular Neurobiology Hamburg, University Medical Center Hamburg-Eppendorf (Germany)

Title: Neuronal activity regulates alternative exon usage.

Raymond Wong, PhD

Affiliation: University of Toronto (Canada)

Title: An Activator of G Protein-Coupled Receptor and MEK1/2-ERK1/2 Signaling Suppresses HIV-1 Replication by Altering Viral RNA Processing.



Title: Avaliable soon.

Kaushik Panda, PhD

Affiliation: Donald Danforth Plant Science Center (USA)

Title: Avaliable soon.

Ying-Xian Pan, PhD

Affiliation: Rutgers New Jersey Medical School (USA)

Title: Alternatively spliced mu opioid receptor C-termini impact the diverse actions of mu opioids.

Ryan Frankum, PhD

Affiliation: University of Exeter (UK)

Title: Extreme longevity variants at the FOXO3 locus may mediate effects in humans by moderation of FOXO3 isoform levels.

Karolina Pajerowska-Mukhtar, PhD

Affiliation: University of Alabama at Birmingham (USA)

Title: The Interplay between ER Stress, RNA Splicing and Intracellular pH Control in Arabidopsis Immunity.

Lucie Grodecka, PhD

Affiliation: Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation (Czech Republic)

Title: Splicing enhancers at intron-exon borders participate in acceptor splice sites recognition.

Alessandro Antonelli, PhD

Affiliation: Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa (Italy)

Title: Anaplastic thyroid carcinoma: new treatment strategies.

Gavin Oliver, PhD

Affiliation: Mayo Clinic (USA)

Title: Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research.

Ronald Neppl, PhD

Affiliation: Brigham and Women’s Hospital (USA)

Title: The RNA binding protein hnRNP-U promotes normal skeletal muscle physiology through its effects on both gene expression and splicing.

Carolyn Cummins, PhD

Affiliation: University of Toronto (Canada)

Title: Avaliable soon.

Alexander G. B. Groenning, PhD

Affiliation: Novo Nordisk Foundation Center for Basic Metabolic Research (Denmark)

Title: DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning.

Roland Arnold, PhD

Affiliation: University of Birmingham (UK)

Title: Back-splicing transcript isoforms (circular RNAs) affect biologically relevant pathways and offer an additional layer of information to stratify NMIBC patients.

Ulf Schmitz, PhD

Affiliation: Centenary Institute (Australia)

Title: Multi-omics data analysis identifies epigenetic regulators of alternative splicing.

Tamar Ben-Yosef, PhD

Affiliation: Technion-Israel Institute of Technology (Israel)

Title: Splicing-altering mutations in patients with inherited retinal diseases.

Mauro Calabrese, PhD

Affiliation: University of North Carolina at Chapel Hill (USA)

Title: Avaliable soon.

Gianluca Petris, PhD

Affiliation: Medical Research Council Laboratory of Molecular Biology (UK)

Title: Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.

Krysta Coyle, PhD

Affiliation: Simon Fraser University (Canada)

Title: Avaliable soon.

Veronica Aran, PhD

Affiliation: Instituto Estadual do Cérebro Paulo Niemeyer (Brazil)

Title: Avaliable soon.

Prech Uapinyoying, PhD

Affiliation: National Institutes of Health (USA)

Title: Avaliable soon.

Vered Raz, PhD

Affiliation: Leiden University Medical Centre (The Netherlands)

Title: Avaliable soon.



Title: Avaliable soon.