Workgroup Chair and Co-Chair
Dr Tjitske Kleefstra
(Rotterdam)
Dr Christiane Zweier
(Berne)
This workgroup is dedicated to the improvement of the knowledge and understanding of rare genetic neurodevelomental disorders, which number in the thousands but are poorly known for the most part.
It is divided into 4 taskforces: the first two seek to network experts in the respective fields of intellectual disabilities and psychiatry; the other two are dedicated to specific projects: the launch of an unprecedented European congress on rare neurodevelopment disorders, and the development of a gene database specific to neurodevelopmental disorders.
Intellectual disabilities (ID) and autism spectrum disorder (ASD)
ID & ASD taskforce seeks to bring together ERN-ITHACA experts and stakeholders that focus on improving the care management for children with profound intellectual disability and older adults, with a focus on transition and daily life. Its purpose is to create a collaborative environment where participants can share their views and ideas on how to address the challenges faced by patients with profound intellectual disability and older adults in managing their care.
Psychiatry & genetics
This taskforce aims to bring together experts in the fields of genetics and psychopathology to discuss the current knowledge exchange network on “genetics – psychopathology” and explore the value of setting up a sustainable European platform for crosstalkS in these areas. This in-building network will be the foundation for sharing best practices from a multidisciplinary point of view, including the perspective of the expert-by-lived-experience, and identifying ideas to improve the ways we care for individuals living with rare genetic neurodevelopmental disorders and facing psychiatric challenges.
EuroNDD
EuroNDD is the first EU Workshop dedicated to genetic neurodevelopmental disorders. The event was first launched in 2023 and has gathered around 250 experts in Amsterdam where were discussed broad NDD related themes such as intellectual disability, neuropsychiatry, data sharing and registries, transition of care, therapeutic developments and pre-clinical research in model systems. The second edition of the workshop was held in Lisbon on April 4-5 2024, and the third edition is planned on 2026, in Warsaw.
To learn more about the workshop : https://ern-ithaca.eu/events/eurondd/
EuroNDD Worskhop 2024 – Lisbon, Portugal
SysNDD
The SysNDD is a web-based gene database that can be utilized for diagnostic purposes. It contains a manually curated catalogue of published genes implicated in neurodevelopmental disorders (NDDs) and classified into primary and candidate genes according to the degree of underlying evidence. Through this taskforce, ITHACA seeks to support the development of the database.
To know more about SysNDD : https://ern-ithaca.eu/documentation/sysndd/
