Data is the key.
To understand rare diseases.
To develop life-changing treatments and cures.
To empower people.
Data science & AI
We connect different areas of science and healthcare for rare disease research. We focus on technology, data and knowledge transfer to find new discoveries. We emphasise the importance of data and new technologies (especially data science and AI) that can help us understand the complexities of rare diseases. Knowledge transfer from research to clinicians, patients and parents is at the forefront of our work.
RARE DISEASES OBSERVATORY
Collaboration with JSI IRCAI and EventRegistry
The Rare Disease Observatory (RDO) has the primary goal of improving access to information for all stakeholders in the rare disease community. In its first pilot release, the RDO presents 16 rare neurodevelopmental disorders. RDO shows the NDDs and their occurrence in global media news, social media, and scientific publications in real-time.
Link to the observatory https://rarediseases.ijs.si/
KLEEFSTRA SYNDROME CAREGIVER REPORTED INSIGHTS
Collaboration with JSI and Genida (IGBMC)
In rare diseases patients/caregivers are also the experts, knowing the most regarding a particular disease that they are living with. That is why patient reported outcomes (PROs) / caregivers reported outcomes are very important, contributing to the knowledge that is scarce in rare diseases. The Kleefstra snydrome community is participating in GENIDA registry. Together with partners we performed data science techniques to analyze the data and data visualizations to show the results.
RARE DISEASES AND AUTOMATIC TEXT CLASSIFICATION WITH INTERACTIVE DATA VISUALIZATION
Collaboration with JSI IRCAI and EventRegistry
Rare disease data is usually fragmented, isolated in storage, in different modalities, which makes it even harder to access information. Leveraging the MEDLINE biomedical open data resources and its structured vocabulary, MeSH Headings enables the application of machine learning methodologies for the prioritization and extraction of valuable insights from text-based documents, including reports, research papers, and news articles. It introduces a framework that is using MEDLINE/MeSH for the automated annotation and interactive exploration of text-based documents related to rare diseases.
Link to the project https://idefine-europe.org/medline/
NEW AI/ML RESEARCH METHODOLOGIES FOR PROS IN THE FOCUS OF RARE DISEASES
Collaboration with JSI, Genida (IGBMC) and Erasmus MC
This HumaneAI micro project [linkaj na https://www.humane-ai.eu/] will develop new AI/ML research methodologies enabling new insights into rare diseases. The Kleefstra syndrome cohort involving data for 200 Kleefstra syndrome patients from all over the world will serve as our use case and the developed research results will be presented as a good practice example to clinicians, researchers, and rare disease patient advocacy organizations. With the results, we want to encourage further and wider participation of patients/caregivers in the data collection processes and the involvement of this data in the clinical and research work of clinicians and researchers.
Link to the project https://www.humane-ai.eu/project/new-ai-ml-research-methodologies-for-pros-in-the-focus-of-rare-diseases/
Advocacy
One of the goals is to raise awareness of rare diseases and provide support to patients/caregivers. The focus is on monogenic neurodevelopmental disorders (NDDs).
NATIONAL ADVOCACY FOR RARE DISEASES
Focus on rare neurodevelopmental disorders
Collaboration with SATB2 EUROPE, CTNNB1 foundation and others
At the national level (Slovenia), IDefine Europe advocates for rare NDDs and works closely with SATB2 Europe and the CTNNB1 Foundation. IDefine Europe is also one of the supporters of Centre of Excellence for the Technologies of Gene and Cell Therapy established from the National Institute of Chemistry, Slovenia. IDefine Europe is also a member of the Patient organisations association of Slovenia.
EUROPEAN ADVOCACY FOR RARE DISEASES
Representing rare neurodevelopmental disorders with specific focus on Kleefstra syndrome
Member of EURORDIS
At the European level, IDefine is a member of Eurordis (umbrella organisation for rare diseases) and active in the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA). Founder Tanja Zdolšek Draksler is also an ERN ITHACA ePAG (member of the European Patient Advocacy Group).
Learn & train
A variety of learning and training materials already exist, but these materials are available in different languages, types, and modalities. We set out to gather relevant sources and create a comprehensive e-learning and training program for rare diseases.
Partnerships
We work closely with researchers and clinicians. Partnerships and collaborations form the basis of our work and we are constantly seeking new ways to continue and expand our work. You are welcome to join!
We work closely with researchers and clinicians. Partnerships and collaborations form the basis of our work and we are constantly seeking new ways to continue and expand our work. You are welcome to join!
Research partner from Slovenia covering natural and technical sciences
Research partner covering AI technologies
Clinical and research partner from Netherlands, covering NDDs
Expertise center for neurodevelopmental disorders
Clinical and research partner from Netherlands, covering NDDs
Network of clinical experts
Research into speech and language skills in individuals with Kleefstra syndrome.
Caregiver-reported data registry for genetic forms of intellectual disability, autism and epilepsy
Umbrella organisation for RD in Europe
Rare disease community partner from USA, with the initial focus on Kleefstra syndrome
Partner in advocacy activities
Partner in advocacy activities
