Nachfolgend finden Sie eine Liste der von dem Posterausschuss ausgewählten Poster, die auf der ECRD 2020 präsentiert wurden. Für die elektronischen Versionen der Poster klicken Sie bitte auf den Thementitel. Dann sehen Sie alle Poster zu diesem Thema.
The future of diagnosis: new hopes, promises and challenges
P08: Molecular-Based Newborn Screening for Cystinosis and Spinal Muscular Atrophy (SMA) in Germany, Katharina Hohenfellner et al.
P10: The Importance of Diagnosis in Lipodystrophies, Jose Jerez Ruiz et al.
P11: Visualization techniques in a Clinical Decision Support System for Rare Diseases, Jannik Schaaf et al.
P12: Siglec-6: a potential new biomarker for clonal mast cell diseases, Andrea Renate Teufelberger et al.
P015: Mind the gap – Rare transition from child to adult care, Åsa Lundin et al.
P16: We made the therapies, now give us newborn screening!, Annamaria Zaccheddu et al.
P18: Molecular studies of intestinal malrotation, Karin Salehi Karlslätt et al.
P19: Volumetry of the anal sphincter complex in infants with anorectal malformation, Patricia Feil et al.
P20: CDG Diagnosis: A simplified guide for different stakeholders, Carlota Pascoal et al.
P23: Timeliness of Genetic Diagnosis in Critical Newborns: Proposal of a Dedicated Diagnostic Path, Cortellessa Fabiana et al.
P28: Next Generation Sequencing (NGS) an opportunity for patients non-diagnostic in Lysosomal Storage Disease, Isidro Arévalo-Vargas et al.
P29: Genetic diagnoses in skeletal ciliopathies using MPS, structural variant, and RNA analyses, Dominyka Batkovskyte et al.
P30: Stiftelsen Sällsyntafonden – The Rare Disease Research Foundation, Ann Nordgren et al.
P34: Whole genome sequencing discovers clonal evolution of leukemic clones from birth to the time of diagnosis of concordant acute lymphoblastic leukemia in a monozygotic twin pair, Fulya Taylan et al.
P35: Genetics in Belgium: Today And Tomorrow, Joséphine Lantoine et al.
P36: Extended newborn screening, Manuela Vaccarotto et al.
P38: Co-production of the Welsh Rare Disease Research Gateway, Emma Hughes et al.
P39: Genomic data and the NHS: views of rare disease patients and carers, Amy Hunter et al.
P43: A Novel Globotriaosylceramide Quantification Assay for the Rapid Diagnosis of Fabry Disease, Allan Ng Wee Ren et al.
P227: Abdominal Pain «Without a Good Reason» – Think Acute Hepatic Porphyria!, Jasmin Barman-Aksözen et al.
Our values, our rights, our future: shifting paradigms towards inclusion
P045: Advancing meaningful patient involvement: case HARKKO patient advocacy group, Carita Åkerblom et al.
P046: “I may have CF, but it does not have me” Independent living and Cystic Fibrosis, Sarah Tecklenborg et al.
P050: Views on everyday life among adults with spina bifida: an exploration through photovoice, Hanna Gabrielsson et al.
P053: TemeRARI si nasce – Born to be Brave, Manila Boarini et al.
Share, Care, Rare: Transforming care for rare diseases by 2030
P056: Inpatient Day Centre in Pediatric Unit of Vilnius University Hospital Santaros Klinikos, Viktoras Sutkus et al.
P058: Health Related Quality Of Life After Surgical Repair Of Esophageal Atresia, Anna Rozensztrauch et al.
P059: 25 Year Retrospective on Congenital Diaphragmatic Hernia, Dawn Ireland et al.
P061: Patient and family experience of ATTR Amyloidosis: Results of two focus groups, David Rintell et al.
P063: Screening for neuromuscular diseases: Patient organisations‘ achievements in European Reference Networks, Teresinah Evangelista et al.
P064: Gene Therapy Medicinal Products (GTMPs) represent a paradigm shift in health care as they have great potential for preventing and treating rare diseases with high unmet medical need, Francesca Tomeo et al.
P067: Interdisciplinary Cystinosis Clinic Rosenheim – a treatment model for rare multiorgan diseases, Ulrike Treikauskas et al.
P068: A registries hub against data siloing (ERN Euro-NMD Registry), Teresinah Evangelista et al.
P073: NF Kinder Center of expertise, Claas Röhl et al.
P079: eUROGEN Share, care, cure. ERN for urorectogenital diseases and conditions, Michelle Battye et al.
P080: ERN-EuroBloodNet- Establishment of the European Network of Sickle Cell Disease Patients Organizations, Mariangela Pellegrini et al.
P081: ENROL, the European Rare Blood Disorders Platform, Victoria Gutiérrez Valle et al.
P082: ERKNET, The European Rare Kidney Disease Reference Network, Vera Cornelius et al.
P083: Living Well with Phenylketonuria (PKU) – the Irish PKU Community Perspective, Bernadette Gilroy et al.
P084: An e-Learning program dedicated to Rare Eye Diseases in Europe, an ERN-EYE initiative, Dorothee Leroux et al.
P087: Centralised Efforts Transforming Global Care: The Ten-Year Impact of a Patient Advocacy Group – Medical Expert Partnership on Recognising and Treating a Rare and Complex Epileptic Brain Malformation Syndrome, Emma Nott et al.
P088: The Rare and Complex Epilepsies – Common Unmet Needs within the Patient Community, Allison Watson et al.
P092: Identifying Research Priorities – Rare Disease Research Partnership (RAinDRoP), Suja Somanadhan et al.
P094: A Patient Perspective on Aortic Disease, Timo Söderlund et al.
P097: “Nobody could understand what was wrong with me”, Kerstin Hamberg Levedahl et al.
P102: Bridging the Expertise Gap in HHT Emergency Care, Mildred Lundgren et al.
P106: The International Network on Rare Skin Diseases for Professionals and Patients, May El-Hachem et al.
P110: How my ERN improves my healthcare, Susana Carvajal et al.
P111: Rare disease and Genomic educational needs of UK General practitioners, Will Evans et al.
P113: ERN-RND – Care standards for rare neurological diseases, Carola Reinhard et al.
P116: Global disease registry for neuronopathic GD, Tanya Collin-Histed et al.
P118: Elevator Pitch as Targets Communication Tools for Rare Conditions, Matt Bolz-Johnson et al.
P120: Complement as the Enabler of Carfilzomib Induced Thrombotic Microangiopathy, Miquel Blasco et al.
P121: Patient Journey Cutis Marmorata Teleangiectatica Congenita (CMTC), Lex van der Heijden et al.
P122: Patient Journey Congenital Melanocytic Naevus Syndrome, Marjolein van Kessel.
P278: Unmet Needs of Rare Disease Patients during the COVID-19 Pandemic, Dominique Sturz et al.
When therapies meet the needs: enabling a patient-centric approach to therapeutic development
P125: Rare Disease Research: The Importance of Precision Medicine and Real-World Data (RWD), Femida Gwadry-Sridhar et al.
P128: Orphan medicinal products for the treatment of pancreatic cancer, Jorn Mulder et al.
P129: The specificity of collecting Patient-Reported Outcome Measures by “patient-driven” registries for rare diseases vs “doctor-driven” using the example of the Ukrainian Registry for Spinal Muscular Atrophy, Vitaliy Matyushenko et al.
P138: Molecular markers for tracking skeletal muscle function in Duchenne Muscular Dystrophy, Camilla Johansson et al.
P140: Insights into Generalized Pustular Psoriasis (GPP) Using Real-World Data, Ana Hernandez et al.
P142: How to Expedite the Drug Development Process in the EU, the US and Japan, Terese Johansson et al.
P143: Fondazione Telethon meets the Patients’ Associations needs through the development of a “Seed Grant”, Alessandra Camerini et al.
P144: Patients’ view on the unmet need in endocrine medical research, Johan de Graaf et al.
P146: New approach of medical care in diabetes insipidus, Suzie Buono et al.
P149: TRAZELGA Project: Preliminary results of the prospective national-base multicenter study to standardize the follow-up of type 1 Gaucher disease patients treated with Eliglustat, Irene Serrano Gonzalo et al.
P152: Worldwide Cystinosis Community Advisory Board, Denise Dunne et al.
P153: The estimation of health state utility values in rare diseases: overview of the existing techniques, Michela Meregaglia et al.
P154: Using PROMs in HTA for Rare Disease Treatments, Amanda Whittal et al.
P160: Co-Creation from the Get-Go – Understand the Known and Unknown needs, Lasse Funch Jacobsen et al.
P162: Expert advice to improve clinical trials: from TACT to ACT, Joanne Lee et al.
P163: The first effective treatment for AKU: A collaborative, patient centric effort, Ciarán Scott et al.
P164: European Network for a rare eye disease: ANIRIDIA-NET, Ivana Kildsgaard et al.
P168: Treatabolome: a rare diseases treatment awareness project, Antonio Atalaia et al.
Achieving the triple A’s by 2030: Accessible, Available and Affordable Treatments for people living with a rare disease
P170: The internet platform EXABO – from beta to full version, Désirée Walther et al.
P171: Targeting β2-adrenergic receptors as a new strategy for von Hippel-Lindau disease, Angel M Cuesta et al.
P177: The comprehensive musculoskeletal post-acute ICF core set as a tool to formulate a questionnaire and internally consistent sum variables describing people with skeletal dysplasia, Hanna Hyvönen et al.
P179: Managing clinical and economic uncertainty in the value assessment of innovative gene and cell therapies – adjustments to health technology assessments and innovative payment models, Darren Callanan et al.
P180: How accessible are orphan medicinal products in Slovakia?, Tatiana Foltanova et al.
P181: Propranolol, an accessible, affordable, and available orphan drug for the von Hippel-Lindau disease, Luisa Maria Botella Cubells.
P182: Methodological Quality of Budget Impact Analyses for Orphan Drugs: An Updated Review, Abdallah Khadidja et al.
P185: The Impact of Country Specific Methods of Appraising Rare Disease Treatments, Amanda Whittal et al.
P186: Delivering the patient voice: XLH and the NICE HST appraisal process, Lindsay Weaver et al.
P187: China Rare Disease Drug Accessibility Report 2019, Kevin Huang et al.
P193: Economic Burden of Epidermolysis Bullosa: Evidence from Ireland, Sinead Hickey et al.
The digital health revolution: hype vs. reality
P194: The European Cystic Fibrosis Society Patient Registry’s Data Quality programme, Andreas Jung et al.
P195: Evidence of content validity of the Duchenne video assessment scorecards from a Delphi panel study, Marielle Contesse et al.
P201: Global semantic interoperability a tool to ensure full participation in society, Rob Braamburg et al.
P202: Virtual Reality: An Innovative approach to sharing learnings with Health Care Professionals on Cytokine Release Syndrome and neurological events after Chimeric Antigen Receptor T Cell Therapy (CAR-T) Infusion, Simona Paratore.
P203: Establishing the first pan-European Registry for Rare Bone and Mineral Disorders, Marina Mordenti et al.
P204: Establishing a registry on rare congenital malformations in Germany, Andrea Schmedding et al.
P206: Just how rare are rare diseases on Ada, a medical symptom checker?, Vanessa Lemarié et al.
P209: Patient Knowledge Extraction and Representation from Unlabeled Social Posts, Giacomo Frisoni et al.
P210: Share4Rare: a collaborative platform for rare diseases, Sara Hernández-Ortega et al.
P214: ORPHAcoding RD Patients in a Rare Disease Centre – The Tübingen Solution, Holm Graessner et al.
P217: Social media training by patient organisations for patient organisations, Britta Berglund et al.
P218: A Data Analytics Approach to Rare Disease Discovery, Kenneth Lieberman et al.
Rare Disease Patient Groups Innovations
P219: Rare Disease Day Activity in Japan – Social awareness campaign by various organizers, Yukiko Nishimura et al.
P220: Planet 5P Project. A Cri Du Chat Syndrome Global Community, Cristina Bel Fenellós et al.
P221: Developing Rare Resources for Scotland: Utilising methods of co-production to meet the information needs of people with rare, genetic or undiagnosed conditions and the health professionals involved in their care, Natalie Frankish.
P225: When Lightning Strikes Twice, Differently, Christine Mutena.
P233: Improving patient communication and education using POC (Point of Care) Channel, Xavier Lleixà et al.
P234: CIBERER experience: Giving Patients a Seat at the Table, Beatriz Gomez Gonzales et al.
P241: Topical Approaches And Therapeutic Strategies For Epistaxis in Hereditary Hemorrhagic Telangiectasia: Personal Experience, Mariaconsiglia Santantonio et al.
P242: Empowering people with rare diseases, Nataliya Grigorova et al.
P243: USUALL: Childfriendly Design for Assisitive Devices, Laura Koot et al.
P244: Hereditary Spastic Paraplegia 15, Carina Thurgood et al.
P250: Help yourself! – rare tips for better meetings with the healthcare system, Stephanie Juran et al.
P251: Cystinosis Network Europe, Anne Marie O’Dowd.
P253: Stories are not just for bedtime, Sondra Butterworth et al.
P254: Fondazione Alessandra Bisceglia as a search engine for Vascular Anomalies, Cosmoferruccio De Stefano et al.
P255: Rare Diseases Denmark Helpline, Birthe Byskov Holm et al.
P257: INTRODUCTION RARE DISEASES – a web-based course for professionals who meet PLWRD and their families, Veronica Wingstedt de Flon et al.
P258: Educational consequences of rare conditions – development of an observation instrument, Gunilla Jaeger et al.
P260: Sibling cards as a tool for supporting siblings, Katri Lehmuskoski.
P262: What do caregivers of persons with rare, epilepsy-related conditions need to know?, Merete Kristin Tschamper et al.
P263: What is MCT8 Deficiency (Allan Herndon Dudley Syndrome)?, Veronica Popa et al.
P265: Innovative Summer Camp for people with NMD, Jana Popova.
P267: ‘Patient Journeys’ : Personal experiences shaping clinical priorities, Olivia Spivack et al.
P268: Quality of life (QoL) for people with rare diseases: Recruitment challenges and consequences in a study pilot-testing a provisional QoL tool for people with primary sclerosing cholangitis (PSC) in the UK, Elena Marcus et al.