News
-
New clinical guidelines for the diagnosis and management of spinal dysraphism in children...
We are excited to announce the release of the new clinical guidelines for the diagnosis and management of spinal dysraphism in children and adolescents, with a strong focus on urological health! 🩺💧 These groundbreaking guidelines address key challenges in the care of children with spinal dysraphism, ensuring a holistic approach to: ✅ Early identification of […]
-
Program of the 15th Annual Skeletal Dysplasia Course now out!
This Course is intended to provide an introduction to the basic clinical and radiographic diagnostics and clinical management of skeletal dysplasias. Preference will be given to pediatricians, clinical geneticists and radiologists planning to develop a clinical diagnostic activity in the field of genetic skeletal diseases. The number of participants is limited to 20. The official […]
-
Free Online Course on ORPHACodes for clinicians
Oslo University Hospital (OUS) launched a free e-learning course on ORPHAcodes in both Norwegian and English, marking an important step in sharing expertise on rare disorders nationally and internationally In this course, you will learn what ORPHAcodes are, the basics about the Orphanet classifications of rare diseases and the advantages of using ORPHAcodes. The target […]
-
Registration for the 2025 Curating the Clinical Genome conference is now open!
Registration for the 2025 Curating the Clinical Genome conference is now open! The 9th Curating the Clinical Genome conference is an event organised by Wellcome Connecting Science, and designed to unite the international clinical genomics and biodata communities. This Conference will foster discussions on best practices for the clinical use of genomic data, including variant interpretation, clinical utility, […]
-
ERN-ITHACA Event
ERN-ITHACA In-Depth Webinar #19 Rho-GTPase in intellectual disability and neurodevelopmental disorders
This new ITHACA webinar will focus on elucidating neurodevelopmental disorders caused by deleterious variants in the human RAC1 and RAC3 genes, including intellectual disability, autism spectrum disorders and epilepsy. These genes encode proteins that are crucial for brain development by regulating cell signaling pathways involved in neuronal migration, differentiation and synaptic function. In this webinar, […]
-
ERNs Evaluation Results Report: Kudos to ERNs!
Results of the evaluation of ERNs were just published by the European Commission. To write this report, 24 interviews with ERN coordination teams and ePAGs advocacies, as well as audits of almost 200 HCPs were conducted by a team of 179 independant evaluators. Additional information, suggestions and comments were also collected through online questionnaires sent […]
-
Rare Genetic Conditions Photo Exhibition at the Santa Maria ITHACA Center: check out...
Last November 15th, the Service of Medical Genetics that belongs to Unidade Local de Saúde Santa Maria, in Lisbon, Portugal, celebrated its 25th anniversary. The celebration included a lecture given by guest speaker Prof. Sofia Douzgou Houge and the vernissage of a photography exhibition. This photography exhibition entitled “25 years, 25 faces – Rewriting the […]
-
ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School – Save the date!
This year, the winter school will take place on December 4th, at the Imagine Institute in Paris. The winter school will also be followed by the SOFFOET Best of Meeting, on December 5th. This year, the program of the winter school will be focused on skeletal dysplasias. The winter school is open to 60 participants […]
-
EPNS Congress 8-12 July 2025 – Save the date/abstracts welcome
Welcome to the 16th Congress of the European Paediatric Neurology Society (EPNS) where we classify our field into A for Acute, B for Brain, Health & Science and C for Chronic. We invite you to be part of this unique ABC format to learn, teach, meet, network and exchange ideas on an international stage. Learn more about the stimulating programme and SUBMIT your ABSTRACT (closes 15 January 2025): https://epns-congress.com/ Any […]
-
Registrations to the 2025 European exam of genetics (ECMGG) now open!
The European Certificate in Medical Genetics and Genomics (ECMGG) is the geneticsexam at the European level, that ITHACA is a partner of. It is a joint development of the UEMS Section of Medical Genetics (UEMS-SMG) and the Branch of Medical Genetics and Genomics of the European Board of Medical Genetics (EBMG-BMGG), and has the support […]
-
Launch of the European Rare Diseases Resarch Alliance (ERDERA)
The European Rare Diseases Research Alliance (ERDERA) has just kicked off this September, with an estimated budget of 380 million euros and the aim of improving the lives of 30 million rare disease patients in Europe and beyond. The European Rare Diseases Research Alliance (ERDERA) has been set up to build on the advancements made […]
-
15th Annual Introductory Course on Skeletal Dysplasias: save the date!
15th Annual Introductory Course on Skeletal Dysplasias – June 30th to July 4th 2025 – Medical Genetics Unit AUSL IRCCS Arcispedale S Maria Nuova, Reggio Emilia, Italy Organizers: Sheila Unger, Andrea Superti-Furga, Livia Garavelli The Course is intended to provide an introduction to the basic clinical and radiographic diagnostics and clinical management of skeletal dysplasias. […]