Archives IRDiRC in the news

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2017

• • December 19, 2017, The international rare diseases research consortium: policies and guidelines (OrphaNews)
  • December 19, 2017, Results of what matters to rare disease patients: IRDiRC task force on patient-centered outcome measures (OrphaNews)
  • November 8, 2017, Patient-Centered Outcome Measures (Rare Disease Report)
  • November 6, 2017, Patient Perspective Is Central to Research in Rare Diseases, Experts Argue (Charcot-Marie-Tooth News)
  • November 1, 2017, “Més del 90% de les malalties rares són de base genètica” (Ara Balears)
  • October 16, 2017, Treating rare disorders: time to act on unfair prices (The Lancet Neurology)
  • October 12, 2017, IRDiRC Dreams Bigger (BioCentury Innovations)
  • October 1, 2017, The International Rare Diseases Research Consortium Announces New Vision and Goals (Genetic Testing and Molecular Biomarkers)
  • September 22, 2017, IRDiRC: Achievements and ambitious new goals for rare disease research (OrphaNews)
  • September 11, 2017, Mil nuevos tratamientos y diagnóstico en un año, retos para 2027 (FEDER)
  • September 8, 2017, IRDiRC, nuovi e sfidanti obiettivi per il consorzio sulle malattie rare (Fondazione Telethon)
  • September 8, 2017, El Consorcio Internacional de Enfermedades Raras se propone conseguir mil nuevos tratamientos (Acta Sanitaria)
  • September 8, 2017, Consorcio internacional prevé aprobar 1.000 fármacos para enfermedades raras (El Espanol)
  • September 8, 2017, El Consorcio Internacional de Investigación en Enfermedades Raras (IRDiRC) anuncia las nuevas metas del proyecto (Cibersam ISCIII)
  • September 8, 2017, El consorcio internacional de investigación en enfermedades raras quiere aprobar mil nuevos tratamientos (La Informacion)
  • September 4, 2017, More speciality drugs are coming onto the market than ever before. Why? (Verdict)
  • August 29, 2017, Nouvelle vision et nouveaux objectifs pour IRDiRC (Fondation Maladies Rares)
  • August 22, 2017, 200 neue Therapien für Seltene Erkrankungen (Bundesministerium für Bildung und Forschung)
  • August 22, 2017, IRDiRC – New rare disease research goals for the next decade (UEMS Section of Radiology)
  • August 18, 2017, IRDiRC Goals 2017-2027: New rare disease research goals for the next decade (NHGRI)
  • August 16, 2017, Future of Rare Diseases Research 2017–2027: an IRDiRC Perspective (Genome Alberta)
  • August 15, 2017, Každý týden objevujeme nové dědičné metabolické poruchy, tvrdí expert (Magazin Leonardo)
  • August 14, 2017, IRDiRC Goals 2017-2027: New rare disease research goals for the next decade (Ithanet)
  • August 13, 2017, IRDiRC announces the new vision and goals for 2017-2027 (Rare Revolution Magazine)
  • August 11, 2017, International Rare Diseases Research Consortium announce their new vision and goals to 2027 (Australian Genomics Health Alliance)
  • August 11, 2017, Loulou Foundation Shares IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade (PR Newswire)
  • August 10, 2017, Framgångsrikt internationellt arbete med nya terapier för och diagnostisering av sällsynta diagnoser (Sällsynta diagnoser)
  • August 10, 2017, IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade (GARD)
  • August 10, 2017, New rare disease research goals for the next decade (European Commission)
  • August 10, 2017, New IRDiRC goals for 2027 (RD-Connect)
  • August 10, 2017, Announcement of the IRDiRC Goals 2017-2027: New rare disease research goals for the next decade (AMED)
  • August 10, 2017, De nieuwe doelen van IRDiRC voor 2017-2027 (ZonMW)
  • August 10, 2017, International Rare Diseases Research Consortium sets new research goals for 2017‑2027 with CIHR support (Canadian Institutes of Health Research)
  • August 9, 2017, Audacious goals for rare diseases research (E-Rare)
  • August 9, 2017, IRDiRC Goals 2017-2027: New rare disease research goals for the next decade (Foundation for Sarcoidosis Research)
  • August 9, 2017, IRDiRC (The International Rare Diseases Research Consortium). (Alström Syndrome UK)
  • August 9, 2017, Brains For Brain is glad to share the new vision and goals of The International Rare Diseases Research Consortium (IRDIRC). (Brains For Brain)
  • August 9, 2017, WA Health helps champion rare disease research success (Government of Western Australia, Department of Health)
  • June 13, 2017, Eurordis is 20 years old. A story of commitment and success, with a future to be built (Osservatorio Malattie Rare)
  • June 6, 2017, International cooperation to enable the diagnosis of all rare genetic diseases (OrphaNews)
  • June 6, 2017, The role of the European Union in international collaboration for rare diseases research  (OrphaNews)
  • May 15, 2017, La Fundación Xenómica diagnostica 20.000 cánceres y males raros al año (La Voz de Galicia)
  • May 4, 2017, Unveiling the bottlenecks to discovering the root causes of rare genetic diseases (Medical X Press)
  • March 31, 2017, Objetivo, reducir a un año el tiempo del diagnóstico de las enfermedades raras (La Voz de Galicia)
  • April 6, 2017, Advancing Rare Disease R&D: A Mission Update (PharmExec.com)
  • March 3, 2017, Greater than the sum of its parts: How Matchmaker Exchange is being used to solve today’s hardest rare disease cases (GA4GH)
  • February 28, 2017, Sharing data between researchers too often an afterthought in rare disease work (Horizon Magazine European Commission)
  • February 27, 2017, What is IRDiRC and How Does it Improve the Rare Disease World? (Patient Worthy)
  • February 24, 2017, 3rd IRDiRC Conference – Trends in Patient Advocacy (BHD Research)
  • February 22, 2017, Catalyzing Progress on Rare Diseases across the Globe (NCATS)
  • February 21, 2017, IRDiRC conference in Paris: an event to be remembered (OrphaNews)
  • February 18, 2017, 3ème conférence du Consortium International de Recherche sur les Maladies Rares (IRDiRC) (Fitima)
  • February 17, 2017, 3rd International Rare Disease Research Consortium Conference (BHD Research)
  • February 10, 2017, RD-Connect presentation at the IRDiRC 2017 conference in Paris (RD-Connect)
  • February 9, 2017, 3rd IRDiRC Conference (European Commission)
  • February 9, 2017, 3rd IRDiRC Conference (ASrid)
  • February 9, 2017, Global Phenotypic Data Sharing Standards to Maximize Diagnostics and Mechanism Discovery (Melissa Haendel)

2016

• December 20, 2016, Save the date for the third IRDiRC conference in Paris, France (Orphanet)
• December 20, 2016, IRDiRC Recognized Resources: quality indicator of the International Rare Diseases Research Consortium (Orphanet)
• December 1, 2016, La 3e Conférence IRDiRC (Fondation Maladies Rares)
• November 14, 2016, El encuentro se celebrará en Paris el 8 y el 9 de febrero de 2017. En la cita se abordarán los objetivos del Consorcio para los próximos 10 años (Instituto de Salud Carlos III)
• October 1, 2016, Few patients, but strong evidence (DIA Global Forum)
• October 1, 2016, E-Rare project celebrates ten years of collaboration in rare disease research (DIA Global Forum)
• September 30, 2016, IRDiRC Report on Small Population Clinical Trials (VASCern)
• June 23, 2016, New funding opportunities for orphan drug development in Horizon 2020 (TTopstart)
• May 6, 2016, How the ‘internet of DNA’ could solve the mystery of this boy’s disease (The Star)
• April 29, 2016, IRDiRC recommend both the CTSR and TACTs (Treat-NMD)
• April 19, 2016, Zeldzame ziekten: een complexe uitdaging voor onderzoekers én samenleving (OrphaNews)
• April 19, 2016, IRDiRC recommended label for 5 more resources (Healthcare Executive)
• March 21, 2016, A New Horizon for Discovering Rare Disease Therapies (NCATS)
• March 15, 2016, El Consorcio de Enfermedades Raras concede su sello al proyecto europeo RD-Connect (Acta Sanitaria)
• March 15, 2016, Este sello solo se concede a acciones que implican un beneficio internacional en el marco de la investigación de las enfermedades raras (ISCIII)
• March 10, 2016, Nieuwe therapieën voor zeldzame ziekten (PNO)
• March 2, 2016, Small Population Clinical Trials workshop (IDeAl)
• February 29, 2016, IRDiRC publishes State of Play of Research in the Field of Rare Diseases: 2014-2015 (ITHANET)
• February 29, 2016, Two TREAT-NMD resources achieve IRDRiC recommended status (European Commission)
• February 26, 2016, Together we are stronger! (TREAT-NMD)
• February 26, 2016, Report published by the IRDiRC Scientific Secretariat (RARE-Bestpractices)
• February 23, 2016, Malattie rare, lavori in corso (Sanità nazionale)
• February 19, 2016, Overview of Phenotype Exchange Format (Github)
• February 19, 2016, Seltene Erkrankungen – keine Seltenheit? (BR)
• February 6, 2016, Érték hozzáadása együttműködés révén (European Commission Information Sheet Rare Diseases)
• February 5, 2016, Dr. Manuel Posada: “Ningún país tiene capacidad ni económica ni intelectual para investigar todas las enfermedades raras” (AVASEHLOS)
• February 3, 2016, Statement from the Human Variome Project International Scientific Advisory Committee on the International Consortium of Human Phenotype Terminologies (Human Variome Project)
• January 27, 2016, Ancora record per la raccolta fondi Telethon 2015 (UPper)
• January 27, 2016, The Rare Reality: An Insight into the Patient and Family Experience of Rare Disease (AKU)
• January 27, 2016, Small Population Clinical Trials – IRDiRC (herenciageneticayenfermedad)
• January 26, 2016, Malattie rare, superare le difficoltà delle sperimentazioni in piccoli gruppi (Osservatorio Malattie Rare)
• January 25, 2016, Looking for alpha-testers: Automatable Discovery and Access Matrix (ADA-M) (P3G)
• January 21, 2016, Consent Codes: Upholding Standard Data Use Conditions (Plos Genetics)
• January 21, 2016, Database per la ricerca, quattro nuove risorse ricevono la raccomandazione IRDiRC (Osservatorio Malattie Rare)
• January 18, 2016, Registro estatal de enfermedades raras (Health & Medicine)
• January 17, 2016, The DIY Scientist, the Olympian, and the Mutated Gene (ProPublica)
• January 14, 2016, HPO got IRDiRC recommended (Human Phenotype Ontology)
• January 12, 2016, IRDiRC News (RARE-Bestpractices)
• January 12, 2016, The GA4GH-Framework, DECIPHER, ICHPT and HPO receive the IRDiRC Recommended label (OrphaNews)
• January 11, 2016, Six Important Messages From Lets Cure Diseases (Diseases Blog: Lets Cure Diseases)
• January 1, 2016, AMED Newsletter (AMED)

2015

• November 26, 2015, Rare diseases research and human tissue engineered products (European Commission)
• November 18, 2015, Situación actual de la investigación en el campo de las enfermedades raras (Yo Nemalinica)
• November 17, 2015, Malattie rare, IRDiRC pubblica lo stato di avanzamento della ricerca (Osservatorio Malattie Rare)
• November 11, 2015, Utility of patients’ registries to gather clinical, epidemiological and molecular information (Orphanet Journal of Rare Diseases)
• November 10, 2015, Informe de IRDIRC sobre la investigación en enfermedades raras 2014-15 (Rare Commons)
• November 10, 2015, Human genotype–phenotype databases: aims, challenges and opportunities (Nature Reviews Genetics)
• November 6, 2015, Statto della ricerca nel campo della malattie rare: rapporto IRDiRC (Prometeus)
• November 3, 2015, Making Clinical Trials More Patient-Centred (EURORDIS)
• November 3, 2015, Making Clinical Trials More Patient-Centred (PressReleasePoint)
• October 28, 2015, IRDiRC State of Play (RBDD)
• October 27, 2015, IRDiRC: State of Play of Research in the Field of Rare Diseases 2014-2015 (Europlan)
• October 27, 2015, IRDiRC publishes State of Play of Research in the Field of Rare Diseases: 2014-2015 (OrphaNews)
• October 27, 2015, ORDO and PhenomeCentral receive the “IRDiRC Recommended” label (OrphaNews)
• October 24, 2015, IRDiRC, Big Money, and Genetic Matchmaking (Rare Disease Report)
• October 24, 2015, Castagnata al mercato di Lecco (Comune di Lecco)
• October 19, 2015, IRDiRC – Its History and Its Goals (Rare Disease Report)
• October 15, 2015, Interview with Ségolène Aymé (video) (World Orphan Drug Congress)
• October 9, 2015, Seltene Erkrankungen (Bundesministerium für Gesundheit)
• October 6, 2015, La obtencion de la recomendacion supone la visibilidad de una calidad externa reconocible (Mi Togue Diferente (blog))
• September 30, 2015, International Rare Diseases Research Consortium (IRDiRC) – The principles for sharing (BBMRI-ERIC)
• September 29, 2015, RD-Connect’s international charter of principles for sharing bio-specimens and data receives the International Rare Diseases Research Consortium (IRDiRC) Recommended label (RD-Connect News)
• September 29, 2015, Developing methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices Meeting Report (Taylor & Francis Online)
• September 28, 2015, Relief agencies lobby for life-saving treatments (Financial Times)
• September 28, 2015, Patients need faster, cheaper treatment (Financial Times)
• September 25, 2015, Geneticists Launch Matchmaker Exchange for Rare Disease Gene Discovery (CheckOrphan)
• September 24, 2015, Geneticists Launch Matchmaker Exchange for Rare Disease Gene Discovery (Brigham and Women’s Hospital)
• September 24, 2015, Matchmaker Exchange Platform Launched to Match Rare Disease Patients (Diagnostics World news)
• September 22, 2015, Malattie rare e croniche. Gli indirizzi Ue nella bozza 2016-17 di Horizon 2020 ( Ordine dei Medici Chirurghi e degli Odontoiatri della Provincia di Catania )
• September 10, 2015, IRDiRC recommends BBMRI.se International Charter of Principles (BBMRI)
• August 26, 2015, AMED as First IRDiRC Member Institution from Japan (AMED)
• August 7, 2015, Jordi Quintana, member of the Executive Board of IRDiRC´s ‘Data Mining and Repurposing Task Force’ (Parc Científic de Barcelona)
• August 6, 2015, Rare Insight: Research Improving Lives of People with Rare Diseases (Canadian Institutes of Health Research)
• July 22, 2015, Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies(Journal of Neuromuscular Diseases)
• July 2, 2015, EspeRare on IRDiRC’s data mining & repositioning taskforce (EspeRare)
• June 2, 2015, EU-LAC Health Conference: Proceeding to the next step of health research cooperation between the European Union, Latin American and Caribbean countries (EU-LAC Health)
• May 27, 2015, THERAMetrics is nominated as IRDiRC Task Force member, and is sponsoring the 4th Annual Drug Repositioning, Repurposing & Rescue Conference May 27-28 in Chicago (THERAMetrics)
• May 6, 2015, 3rd International Summer School on Rare Disease and Orphan Drug Registries and RD-Connect Workshop Data linkage and ontologies (Enerca)
• April 16, 2015, Ralf-Dieter Hilgers was nominated as IRDiRC Task Force Member (IDeAl)
• April 15, 2015, Simpósio Internacional de Doenças Raras (Universidade Federal de Pernambuco)
• April 1, 2015, Dossier Maladies Rares (FEDERG)
• March 24, 2015, Fighting rare diseases (Pharmaceutiques)
• March 18, 2015, La communauté des maladies rares s’internationalise ! (EURORDIS)
• March 16, 2015, Resources, challenges and way forward in rare mitochondrial diseases research! (F1000 Research)
• February 25, 2015, International Rare Diseases Research Consortium (International Innovation)
• February 10, 2015, Bando E-Rare 2015: progetti di ricerca europei sulle malattie rare (Horizon 2020 News Italy)
• January 19, 2015, a dynamic year for rare disease stakeholders (International Society for Neonatal Screening)
• January 13, 2015, NIH Developing GRDR Program (Federal Telemedecine News)
• January 5, 2015, Rare Diseases and Biomarkers: Challenges and Opportunities (Life Sciences Connect)
• January 5, 2015, E-Rare-3 Joint Transnational Call (2015): Transnational Research Projects on Rare Diseases (GenomeCanada)

2014

• December 15, 2014, Primary immune deficiencies – principles of care (Frontiers in Immunology)
• November 21, 2014, Computational approaches may expedite drug repurposing for rare diseases (BHD Foundation)
• November 16, 2014, 2014 Rare & Orphan Advocacy (ROAR) Awards (Orphan Druganaut Blog)
• November 14, 2014, The 2nd IRDiRC conference shares care for the rare (BGI News)
• November 7-8, 2014, The Action Duchenne 12^th International Annual Conference (Università di Ferrara)
• November 4, 2014, Paul Lasko, lauréat des Prix du Québec (Les Prix du Québec, Canada)
• November 4, 2014, Turning the challenge of rare diseases into an opportunity for Europe (The Parliament, Europe)
• October 27, 2014, Why drug repositioning is key for rare diseases? (Fundamental Diseases.net, Nick Sireau)
• October 27, 2014, EORTC on Board of International Rare Disease Research Consortium (EORTC, Belgium)
• October 17, 2014, A hidden priority: the paradox of rarity (Expert Opinion on Orphan Drugs, Le Cam Y)
• October 16, 2014, More New Therapies Emerge for Rare Diseases (MesotheliomaHelp, USA)
• October 2014, Understanding rare disease pathogenesis: a grand challenge for model organisms (Genetics, Hieter P. & Boycott KM)
• September 26, 2014, Genomic data sharing for translational research and diagnostics (Peter Robinson, Genome Medicine)
• September 6, 2014, Los expertos en EE.RR. de la UE piden iniciativas para lograr más investigación (GacetaMedica.com, Spain)
• September 5, 2014, Implementation report on the Commission Communication on Rare Diseases (European Commission)
• August 28, 2014, ALS Challenge with Paul Lasko (Cafés Scientifiques des IRSC)
• August 21, 2014, ALS Challenge with BGI (BioClub, China)
• August 2014, Rare insights for Royal Street staff (Western Australia Department of Health, Australia)
• July 17, 2014, RD-Connect: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research (Journal of General Internal Medicine)
• July 2014, Complex issues in developing drugs and biological products for rare diseases and accelerating the development of therapies for pediatric rare diseases (FDA, USA)
• June 23, 2014, The TSC of the IRDiRC develops key recommendations to unlock the potential of rare diseases therapies development(EURORDIS)
• June 11, 2014, Estrategia en enfermedades raras del sistema nacional de salud (Ministerio de Sanidad, Spain)
• June 6, 2014, 9th IRDiRC Executive Committee meeting – Berlin, Germany (RD-Connect News, United Kingdom)
• June 5, 2014, One in two hundred (DevelopAKUre, EU)
• June 4, 2014, Explican los avances en la investigación de diversas patologías en la IV Jornada anual de enfermedades minoritarias del adulto (CIBERER, Spain)
• June 4, 2014, Se celebra en el Clínic la IV Jornada anual de enfermedades minoritarias del adulto (Blog del Clínic, Spain)
• June 3, 2014, NeurOmics: -omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases – an EU funded FP7 project (German Society of Neurogenetics Newsletter, Germany)
• June 2, 2014, La Fondation maladies rares intègre le Comité Exécutif d’IRDiRC (Fondation maladies rares, France)
• June 2, 2014, Sma, Italia protagonista nella sfida globale (Corriere della sera, Italy)
• May 22, 2014, Irene Norstedt talks about rare disease’s grant situation in Europe and IRDiRC (European Network for Rare and Congenital Anaemias, European Commission)
• May 20, 2014, ECRD 2014 video: rare diseases – an ever evolving landscape (EURORDIS, Charlotte Rodwell)
• May 20, 2014, Research into rare diseases (German Federal Ministry of Education and Research, Germany)
• May 5, 2014, E-Rare et IRDiRC : L’ANR participe aux efforts mondiaux sur les maladies rares (National Research Agency, France)
• April 4, 2014, Una de las vías en enfermedades raras es reposicionar los medicamentos autorizados (EL GLOBAL.net, Spain)
• April 3, 2014, , Health research in Europe: 50 years of achievements, 50 years of challenges (European Commission)
• April 2014, The Italian National Centre for Rare Diseases: where research and public health translate into action (Blood Transfusion)
• March 29, 2014, A Canadian action plan for rare diseases (Rare Diseases, Canada)
• March 26, 2014, Pioneering IRDiRC ~omics projects, which include EURORDIS as a partner, are making great strides forward! (EURORDIS)
• March 14, 2014, No disease is too rare for treatment (Irish Medical Times, Ireland)
• March 6, 2014, Safe treatment for rare eye disease Acanthamoeba Keratitits (Medical Xpress)
• February 28, 2014, European Rare Diseases Day: top fact on EU actions (European Commission)
• February 28, 2014, Rare Disease Day 2014: Join Together for Better Care (BHD Foundation, United Kingdom)
• February 4, 2014, Rare disease patients are talking – are you listening? (Pharmaphorum, USA)
• January 25, 2014, Rare diseases: 38 million Euro funding for research (AFM Téléthon, France)
• January 21, 2014, Malattie rare: Genzyme chiede di entrare a far parte dell’IRDiRC (Osservatorio Malattie Rare, Italy)
• January 2, 2014, Italia e USA lavorano insieme alla ricerca sulle malattie rare (Istituto Superiore di Sanità, Italy)
• 2014, Patient database and orphan drug development (Article in Japanese)

2013

• December 20, 2013, Come Oxford e Harvard: quando la ricerca italiana arriva al top del mundo (La Stampa, Italy)
• December 19, 2013, No pares la investigación en enfermedades raras (Asociación Española de Cáncer de Tiroides, Spain)
• December 2, 2013, El Instituto de Salud Carlos III crea el Biobanco Nacional de Enfermedades Raras (lainformacion.com, Spain)
• November 29, 2013, Collaboration in rare disease research: an interview with Paul Lasko, IRDiRC (Total Orphan Drugs)
• November 25, 2013, IRDiRC Interdisciplinary Committee works on “road map” for IRDiRC research and funding (RD-Connect News, United Kingdom)
• November 20, 2013, Announcing the 2013 ROAR Awards Winners (Total Orphan Drugs)
• September 2, 2013, An interview with the chair of IRDiRC (Total Orphan Drugs)
• Fall 2013, The policy research programme by Prof Bartha Knoppers (P3G Public Population Project in Genomics and Society Newsletter, p.6)
• July 2013, Video interview of Dr. Draghia-Akli and Dr. Wang (BioCentury This Week)
• June 2013, IRDiRC news (RD-Connect news, United Kingdom)
• June 2013, Genomic diagnostic approaches could diagnose over 7 000 rare diseases (ABC.es, Comunidad Valenciana, Spain)
• May 2013, Exciting developments at international rare disease research consortium (NZORD Newsletter)
• May 2013, Billions spent on rare diseases (Nature Biotechnology)
• February 2013, Translating the genomics revolution: the need for an international gene therapy consortium”>for monogenic diseases (The American Society of Gene & Cell Therapy)
• January 30, 2013, Fighting rare diseases (Features Archives, University of Malta)
• 2013, The European Union policy in the field of Rare Diseases (Public Health Genomics)
• 2013,Dispelling myths about rare disease registry ,system development (Source Code for Biology and Medicine)
• 2013, Several articles mentioning IRDiRC(Genome Research and Society)

2012

• 2012, Involvement of patient organisations in research and development of orphan drugs for rare diseases in Europe (Molecular Syndromology)
• 2012, Coming together to combat rare diseases (Bulletin of the World Health Organization)