News

La Escuela de Invierno sobre Diagnóstico Fetal tiene como objetivo subsanar una laguna formativa en materia de fenotipado fetal, análisis genético e interpretación de datos. Se trata de un curso de un solo día que incluirá clases teóricas básicas y talleres en profundidad sobre fenotipado, pruebas genómicas prenatales y sus implicaciones para el asesoramiento genético. Para concluir, el programa establecerá un puente entre los campos tratados mediante casos interdisciplinares […]

La Clínica ITHACA es un foro multidisciplinar que reúne a médicos, genetistas moleculares e investigadores en la plataforma CPMS con el fin de ofrecer recomendaciones de expertos sobre casos complejos. Más allá de una consulta habitual, se trata de una oportunidad para aprovechar la inteligencia colectiva de nuestra red con el objetivo de lograr un impacto médico significativo. Fecha: 23 de octubre | 15:00-16:30 Lugar: Plataforma CPMS Formulario de inscripción: […]

El 10.º Encuentro Internacional sobre Enfermedades Raras de la Vía RAS-MAPK tendrá lugar en Roma los días 12 y 13 de octubre de 2026. Ya está abierto el plazo de inscripción y envío de resúmenes a través de la página web del encuentro: https://ern-ithaca.eu/events/rasopathie/. Temas principales: Al igual que en los encuentros anteriores, los organizadores invitarán a expertos seleccionados a presentar sus investigaciones, pero también se aceptan resúmenes sobre sus propios temas de investigación […]

We are pleased to invite you to the second online ITHACA Clinic, scheduled for 3rd July from 12:00 to 13:30 CET on the CPMS 2.0 platform, chaired by Adela Chirita-Emandi and Sofia Douzgou Houge.The ITHACA Clinic is a multidisciplinary forum bringing together clinicians, molecular geneticists, and researchers to provide expert recommendations on challenging cases. Beyond […]

ERDERA invites the ERN community to an introductory webinar on “The ERDERA Diagnostic Research Workstream – An Overview”, taking place on Thursday, 28 May 2026, from 13:00 to 14:00 CEST. Presented by Holm Graessner, this opening session will explain what the ERDERA Diagnostic Research Workstream does, how it is organised, and how clinicians, researchers and […]

As previously announced, the workshop will take place from September 16-192026, at the University of Pavia, Italy, and is supported by the Italian Clinical Genetics Working Group (Gruppo di Lavoro di Genetica Clinica, SIGU). The workshop is open to any presentation in the field of human development, wether large series of patients or single, illustrative case reports. The programme […]

We are pleased to share that the European Paediatric Neurology Society (EPNS) will hold its 2026 Research Meeting on 16-17 October in Thessaloniki, Greece. The event will feature plenary lectures from leading experts and interactive sessions, including two break-out sessions with five parallel working groups covering Autoimmune & Infectious Diseases, Developmental Neurology & Neurogenetics, Epilepsy, […]

With over 95% of rare diseases still lacking approved treatments, there is a pressing need for specialized education in next-generation therapeutics. To address this gap, the Foundation for Rare Diseases (FFRD) is launching its new Massive Open Online Course (MOOC) on FutureLearn: “From DNA to Cure: Gene and Gene-Modified Cell Therapies for Rare Diseases.” Coordinated by FFRD and developed […]

Following the success of the first ITHACA Clinic, we are pleased to announce the launch of another session. The ITHACA Clinic is a multidisciplinary forum that brings together clinicians, molecular geneticists, and researchers on the CPMS platform to provide expert recommendations on challenging cases. Beyond a standard consultation, this is an opportunity to leverage the […]

With over 95% of rare diseases still lacking approved treatments, there is a pressing need for specialized education in next-generation therapeutics. To address this gap, the Foundation for Rare Diseases (FFRD) is excited to announce the launch of their new Massive Open Online Course (MOOC) on FutureLearn: “From DNA to Cure: Gene and Gene-Modified Cell […]

We are pleased to announce the 2026 international “Dysmorphology Summer”, which will take place on August 20–22, 2026 in Palanga, Lithuania.  This annual meeting has deep traditions of bringing together clinical geneticists, medical geneticists, neonatologists, and other specialists working with rare diseases and syndromology. Participants review challenging diagnostic dilemmas, and explore the latest advances in diagnostic and treatment possibilities in an open and friendly […]

In December 2025, HLM RARE 2025 brought together EU policymakers, ERNs, patient organisations, researchers and industry leaders in Brussels to advance a stronger European ecosystem for rare and complex diseases. A key milestone was the launch of the Declaration on a European Innovation and Care Ecosystem for Rare and Complex Diseases, a political commitment structured […]