by Admin | Apr 11, 2025 | Hereditary
Every year on 11 April, World Parkinson’s Day raises awareness about this chronic and progressive neurodegenerative disorder that affects millions of people worldwide. This day serves to highlight the importance of early diagnosis, continued scientific research, and the need for comprehensive care strategies that support both patients and caregivers to finally improve the quality of life of those affected.
Parkinson’s disease (PD) is currently one of the fastest-growing neurological disorders in the world. In Europe alone, more than 1.2 million people are living with the condition—a figure that is expected to double by 2030. Globally, the number of people affected is estimated to reach 11.8 million.
PD is a complex and progressive neurodegenerative disorder that affects movement, cognitive function, and overall quality of life. Its symptoms and progression vary widely, making each case unique. Although its exact cause remains unknown, current research points to a combination of genetic and environmental factors.
Despite notable advances in treatment, there is still no cure. Existing therapies focus primarily on managing symptoms rather than slowing the disease’s progression, highlighting the urgency of continued research and innovation in both medical and supportive care strategies.
HEREDITARY’S contribution
The need for early detection and personalised treatment has never been greater — and this is where the HEREDITARY project steps in.
Funded by the European Union’s Horizon Europe programme, HEREDITARY is unlocking the potential of health data spaces and AI-driven reasoning systems to advance the understanding, detection, and treatment of neurodegenerative diseases like Parkinson’s.
In Use Case 3, HEREDITARY integrates a wide range of multimodal data—including brain imaging, ophthalmic scans, clinical records, and more—to make progress in tackling this disease. The UCD is currently leading an innovative research through advanced AI techniques such as deep learning and unsupervised learning, aiming to identify early biomarkers of Parkinson’s, particularly those visible in the eye, and to uncover patterns that could help predict disease development and progression. This integrative approach not only supports earlier and more accurate diagnosis but also opens new doors to personalized treatment strategies.
HEREDITARY is part of a broader movement across Europe. Other impactful EU-funded projects include:
- The AIPD Project aims to create an international, interdisciplinary graduate school to train the next generation of medical data scientists with a strong translational focus.
- The BICEPS Project is working under the hypothesis that immune system dysfunction plays a role in Parkinson Disease and will utilise advances in systems biology and AI towards new diagnostics and therapies..
- The AI-PROGNOSIS Project aims to advance PD diagnosis and care through novel predictive models combined with digital biomarkers from everyday devices.
- The UNMASK Project is continuing the work of the SCENT project on a bio-based artificial nose system that can be employed for the diagnosis of neurodegenerative diseases such as Parkinson’s and Alzheimer’s diseases.
Parkinson’s affects people of all ages, genders, and backgrounds — and raising awareness is key to driving more research, better care pathways, and early diagnostic innovations that can improve quality of life for millions. As we commemorate World Parkinson’s Day, HEREDITARY stands with researchers, clinicians, patients, and caregivers across Europe to foster a future where technology empowers earlier diagnosis, personalised care, and better lives for those affected by Parkinson’s disease.
by Admin | Mar 14, 2025 | DATA Knowledge
On March 5, the Health Data Space (EHDS) has been Official Journal of the EU. This pioneering initiative aims to create a secure and efficient digital health-specific data environment, benefiting all EU citizens and healthcare professionals, researchers and policymakers.
It will make it easier to exchange and access health data at EU level. It promises to improve individuals’ access to and control over their personal electronic health data, while also enabling specific data to be reused for research and innovation purposes for the benefit of European patients. By fostering a more interconnected, patient-centred, and data-driven healthcare system, the EHDS will enhance efficiency, reduce administrative burdens, and support innovation and long-term sustainability of health services.
Trust is also fundamental to the EHDS. The framework builds on existing EU regulations, including the General Data Protection Regulation (GDPR), to provide a trustworthy setting ensuring data protection.
Primary use: citizens and individuals
The EHDS places citizens at the heart of healthcare by granting them better control over their personal health data. Key benefits include:
- Fast and Free Access: Individuals will be able to swiftly access their electronic health data, facilitating seamless sharing with healthcare professionals or family members in case of need across the EU.
- Enhanced Control: Citizens will have the ability to add personal health information, restrict access to specific parts of their records or to specific persons, view who accessed their data, and request corrections if errors are found.
- Security and Privacy: The EHDS requires robust security and privacy protections by default, to align with the EU’s high data protection standards.
Learn more about the primary use of the health data in the EHDS by clicking here.
Secondary use: research and innovation
At the same time, researchers, public health authorities, and policymakers will be able to leverage health data in a secure and privacy-preserving way to accelerate the development of new treatments, improve disease prevention, and strengthen Europe’s crisis preparedness.
For research projects like HEREDITARY, the EHDS offers unprecedented opportunities:
- Access to High-Quality Data: Researchers will be able to access to large-scale health data, in anonymised or pseudonymised form, crucial for developing life-saving treatments and personalized medicines.
- Structured data discovery: A clear and structured system allows researchers to discover available data, understand its location, and assess its quality, making research more efficient and impactful.
- Ensuring interoperability of the data: The new regulation requires all electronic health record (EHR) systems to comply with the specifications of the European electronic health record exchange format, ensuring that they are interoperable at EU level, which is one of the FAIR principles that the HEREDITARY project pursues in its data management.
- Cost-Efficiency: Streamlined access to high-quality health data reduces research costs, enabling more studies and innovations within available budgets.
Learn more about the secondary use of the health data in the EHDS by clicking here.
Looking ahead
After the signing by the Council and the European Parliament and its publication in the EU’s Official Journal, the EHDS Regulation will enter into force on 26 March 2025 and will become applicable in different phases over the course of the following years, with target dates of 2029 and 2031 for full implementation.
At HEREDITARY, we are enthusiastic about the possibilities the EHDS brings. By enabling secure and seamless data exchange, the EHDS transforms healthcare for everyone: patients, professionals, researchers, public health institutions and industry alike.
Stay tuned as we continue to explore the benefits of the EHDS for our research and the broader community. Together, we are stepping into a new era of healthcare innovation and citizen empowerment.
Access more information on this promising regulation here.
by Admin | Feb 26, 2025 | Events
The HEREDITARY consortium will take part in the upcoming JARDIN Hackathon on Health Data Federated Querying, an event organized by the European Commission. The Hackathon aims to tackle key challenges in integrating sensitive health data across multiple institutions while exploring innovative solutions. Its objectives align closely with our project’s goals, particularly in the fields of federated analytics and learning. A key focus will be enabling federated queries, allowing researchers to extract valuable insights without compromising patient privacy or data security.
This initiative brings together experts from diverse fields, fostering collaboration and knowledge exchange to address these complex issues effectively.
Key topics to be explored during the hackathon include:
- Harmonizing data exports from healthcare provider systems.
- Developing tools and methods for federated data querying.
- Enhancing semantic representation and ensuring compliance with FAIR data principles.
The event is open to professionals from various disciplines, including clinicians, data stewards, analysts, developers, and semantic web specialists, all of whom play a crucial role in advancing data harmonization and secure querying practices.
Although an official event date has not yet been set, the registration deadline for the hackathon is March 5, 2025. We invite all interested participants to seize this opportunity to contribute to the future of digital healthcare while gaining valuable insights. Check here the preliminary agenda!
by Admin | Feb 21, 2025 | Events
On February 20, 2025, in Udine, Italy, the HEREDITARY project participated in the Conference on Information and Research science Connecting to Digital and Library science (IRCDL) 2025, presenting the paper titled “Extending Nanopublications with Knowledge Provenance for Multi-Source Scientific Assertions”. A fantastic work submitted by Fabio Giachelle, Stefano Marchesin, Laura Menotti, and Gianmaria Silvello from the University of Padua, that was honored with the Best Paper Award, standing out at this prestigious conference.
This builds on the success of HEREDITARY at IRCDL for the second consecutive year. In 2024, the team introduced “Publishing CoreKB Facts as Nanopublications”, a study on extracting gene expression-cancer associations from scientific literature and storing them in the CoreKB platform for machine-readable and shareable insights.
This year’s award-winning paper extends the nanopublication model by incorporating knowledge provenance. Unlike traditional models that track assertions from single sources, this approach enables multi-source scientific assertions. Applied to data from the CORE system, this method generated 197.511 extended nanopublications, improving the identification, representation, and citation of gene expression-cancer associations.
About IRCDL
The Conference on Information and Research science Connecting to Digital and Library science (IRCDL) is a key annual event for researchers working in digital libraries and related fields. It covers a wide range of topics, from digital content management to theoretical information models. The conference brings together experts from academia, government, industry, and other sectors, drawing on disciplines such as computer science, digital humanities, information science, archival studies, and cultural heritage. The 2025 edition (the 21st of the Conference) featured two tracks: one on Computer Science Foundations for Digital Libraries and another on Digital Humanities.
The recognition of the HEREDITARY research at IRCDL 2025 highlights our significant contributions to scientific knowledge and health data, driving forward the frontiers of personalized health solutions.
by Admin | Feb 11, 2025 | Events, Hereditary
The HEREDITARY project consortium has carried out its third Plenary Meeting, the first in-person in 2025, which took place on the 5th and 6th of February in Barcelona (Spain). Representatives of partner institutions met there for two productive days of updating, planning, learning, and reviewing the next stages for the Project’s second year.
Day 1 of the meeting included an overview of the project state, the introduction of progress updates on each work package, along with internal workshops or activities to enhance the participants’ capacities. Each WP lead partner delivered a presentation to allow the consortium members to learn first-hand about the advancements made to date and future steps.
On Day 2, WPs’ presentations were completed early in the morning and, then, participants focused on data discussions on genomics, gut-brain interplay, parkinson’s disease in the eye and evidence-based knowledge base construction. They proceeded with the presentation of the Information Extraction CLEF 2025 challenge and closed the day with a short summing-up session.
Decoding 2024
The first year of work has laid the foundations on which the project will be built. One of our most noticiable achievement this year has been the delivery of 16 high-quality deliverables, all on time, demonstrating our efficiency and dedication to project development. These deliverables are available on our website, and we encourage anyone interested to consult those that are publicly accessible, on our zenodo profile.
Throughout 2024, several significant technical advancements have been made, including:
- The Review and Verification of Use-Cases (UNITO – D2.16 and D2.19), which include the decision on the proprietary and public data formats, structures, and sharing methods.
- A Computing Infrastructure Setup (SURF – D2.14) at medical centers and the test of a communication protocol.
- Ontology Development for Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) (UNIPD – D3.1), including the design of federated execution methods, as part of the Federated Learning Working Group.
- Medical Terminology Creation (UNL – D3.4), encompassing corpus construction, terminology extraction, and conceptual/lexical relations.
- The development of initial visualization components (TUGRAZ – D5.1 and D5.3) for sequences, networks, text, high-dimensional, spatial, image, and simulation data. Focusing on brain, gut microbiota, gut-brain, ALS, clustering and Droplets.
- The definition of Health Social Labs (OBSERVA – D6.1) and the implementation of the first ones.
- A preliminary overview of the legal and ethical requirements (KU LEUVEN – D7.1) for the HEREDITARY project.
- The launch of various communication channels (FEUGA – D8.1), aligned with the project’s communication strategy.
New year, new goals
This meeting serves as a launching pad for all that is yet to come during this exciting 2025. Some of them are:
- In 2025, we will have 25 new deliverables, the project maximum number of deliverables in one year.
- Several tasks will start during this year.
- Set up the federated learning and analytics infrastructure. Which must work in in testing environment, for which use cases 1 and 2 will be used. HEREDITARY must deliver concrete applications of federated infrastructure design.
- Develop the federated workflow execution engine on top of the federated data management infrastructure.
- The improvement in FAIRness, focusing on discoverability, for the participating data sources in HEREDITARY.
- We will also hold our first reporting to the European Commission in June 2025!
All this being said, 2025 is set to be a promising year in which together we will continue to make strides towards our goal to improve the way we approach healthcare.
Stay tuned for the latest news and updates!
by Admin | Jan 31, 2025 | Hereditary
One of the HEREDITARY project’s aims is to enhance the usability and impact of data generated and collected within the consortium by ensuring that it adheres to the FAIR principles — Findable, Accessible, Interoperable, and Reusable. This is addressed in Task 3.6 FAIRification workflows and 1+MG guidelines compliance, led by EMBL, one of the partners in the consortium.
By applying these principles, researchers can enhance the impact and visibility of their work, improve reproducibility, and foster collaboration. FAIR data is easier to discover, understand, and integrate with other datasets, leading to new insights and innovative approaches. Controlled Access data can also be FAIR, ensuring data is as open as possible and as closed as necessary, maximizing its potential value in scientific research and beyond while complying with data privacy.
With the collaboration of the project’s data contributors, we will demonstrate how applying FAIRification workflows not only strengthens compliance with international guidelines (e.g., 1+MG, GA4GH) but also improves data discoverability and fosters cross-domain research, one of the focal points of HEREDITARY.
The process of FAIRification can benefit (meta)data collected within the HEREDITARY project, but also reused data obtained from other resources (e.g., EGA) and even synthetic data. Ensuring that data in HEREDITARY is FAIR could involve the following aspects:
✅ Better Metadata – Standardized metadata makes datasets easier to find and understand, even if access is restricted.
✅ Federated Integration – Harmonizing metadata across institutions enables large-scale comparisons and analysis.
✅ Interoperability – Aligning with European standards ensures seamless collaboration with other projects.
✅ Clear Data Policies – Defining usage and sharing conditions simplifies access while protecting sensitive data.
✅ Sustainability – Licensing and versioning ensure datasets remain useful beyond the project’s lifetime.
To sum up, by embracing FAIR principles, HEREDITARY strengthens its data ecosystem, making genomic research more efficient and impactful.
by Admin | Jan 22, 2025 | Events
The HEREDITARY project is taking part in the GutBrainIE CLEF 2025 challenge, as part of the BioASQ Workshop (Task #6) that will be held as a Lab in CLEF 2025, on September 9-12, 2025, in Madrid, Spain. This initiative offers a unique opportunity for researchers and developers to contribute to the advancing field of Natural Language Processing (NLP) and biomedical research.
This year’s challenge focuses on extracting structured information (concepts, relationships, and term variants) from biomedical texts related to the gut microbiota, and its critical connections with Parkinson’s disease and mental health. As new insights into the gut-brain axis continue to emerge, this challenge is a vital initiative for the scientific community to explore further the complex interplay between gut health and neurological disorders.
The GutBrainIE task is divided into two main subtasks. In the first one, participants are asked to identify and classify specific text spans into predefined categories. In contrast, in the second one, they must determine if a particular relationship defined between two categories holds or not. The submitted runs are evaluated based on Precision, Recall, and F1 measures for each subtask using gold annotations created by domain experts.
Important Dates
- Registration Deadline: April 25, 2025
- Test Data Release: April 28, 2025
- Runs Submission Deadline: May 10, 2025
- Evaluation Results: May 19, 2025
- Workshop Dates: September 9-12, 2025, in Madrid, Spain
Don’t miss out on the chance to be part of this groundbreaking event! Register before April 25, 2025, and make your mark on the future of biomedical research.
by Admin | Jan 13, 2025 | Hereditary
As we mark the first year of the Hereditary project, we are thrilled to reflect on the significant milestones we’ve achieved together. This year has been a testament to our collective strength, collaboration, and shared commitment to success. With over 100 individuals from 18 institutions across Europe and the US, the Hereditary project has laid a solid foundation for what is sure to be a fruitful and impactful journey ahead.
One of our most notable achievements this year has been the delivery of 16 high-quality deliverables, all on time, demonstrating our efficiency and dedication to project development. We are particularly proud of our December (12th month of the project) performance, where we successfully delivered 7 deliverables, ensuring we closed the year with impressive momentum. These deliverables are now available on our website, and we encourage anyone interested to consult those that are publicly accessible, on our zenodo profile.
16 deliverables in 12 months of existence
The deliverables produced during this first year of the project materialise the consortium’s progress in several of the 5 interconnected layers that make up the project will develop to integrate multimodal health data.
- Regarding the Federated Networking Infrastructure, we have defined the ethical guidelines for data collection and sharing for model training, as outlined in Deliverable 2.1 (D2.1) led by Università degli Studi di Torino (UNITO). Additionally, we set up the local computing and storage infrastructures in the medical centers, documented in D2.14, led by SURF BV (SURF).
- In terms of the clinical use cases we focus on, and the data we work with, we have established guidelines for data harmonization and provided evidence-based criteria for the design of neurodegenerative in D2.16, and the documentation for all the required approvals for the clinical studies in D2.19, both led by UNITO. We also conducted the initial evaluation of the integrated brain-gut linkage and behavioral phenotyping for feature extraction in federated learning, documented in D2.3 led by Radboudumc (RUMC).
- In the Multimodal Semantic Integration Platform, we have developed the conceptual and linguistic systems that describe the medical terminology in D3.4 led by Universidade NOVA de Lisboa (UNL).
- An important milestone in the project has been the development of the semantic ontology modeling concepts and processes for neurological diseases (Amyotrophic Lateral Sclerosis and Multiple Sclerosis), which includes a preliminary online version of the semantic ontology focusing on these diseases, as well as the design of federated execution methods, documented in D3.1 led by Università degli Studi di Padova (UNIPD). It synthesizes WP2, WP3, and WP4 contributions to provide a comprehensive framework for integrating clinical and genomic data through advanced ontology design and scalable query execution frameworks.
- The Visual Analytics and Interaction layer has been enriched with the development of the initial conceptualization of the software libraries and documentation for visualization of sequences, networks, text, and high-dimensional data, as well as spatial, image, and simulation data, in the deliverables D5.1 and D5.3, led by Technische Universität Graz (TUGRAZ) and SURF.
In addition, during these first 12 months, Work Package 1 has built the architecture on which the management and execution of the project will be based, through the delivery of the Data Management Plan (D1.1, led by the European Molecular Biology Laboratory (EMBL)), the Quality Assurance and self-assessment Plan (D1.3, led by UNIPD) and the Risk Management Plan (D1.4, led by the European Brain Council (EBC)). In Work Package 6, guidelines for organising and implementing the Health Social Labs methodology were established in D6.1, elaborated by Observa Associazione (OBSERVA). In Work Package 7, KU Leuven developed the preliminary overview of the legal and ethical requirements applicable to the HEREDITARY project in D7.1. And, finally, FEUGA led through D8.1 and D8.4, the initial release of dissemination, communication, IP and exploitation plan, including the project webpage, Book of Style, and social media accounts creation.
What’s next for the HEREDITARY project?
Looking ahead to 2025, we are excited to build upon this motivation, continuing our collaborative efforts and addressing any uncertainties or questions openly to stay aligned. The groundwork for ongoing collaboration has been laid, and the future is bright. Big thanks to our partners and all the people involved in the project for their hard work and dedication. Now it’s time to focus on another year of success and growth in the Hereditary project!
by Admin | Dec 5, 2024 | Hereditary
We are delighted to introduce our latest video series, made by our partner Observa in the framework of the HEREDITARY project. Guided by Stephen McNamara, a research instructor at the University of Colorado Anschutz Medical Campus, we delve into the potential of AI for early diagnosis of neurodegenerative diseases and ways of communicating with patients and the public.
Each video offers a closer look at the research group’s objectives, methodology, and layers, helping you to understand the impact of this pioneering work on healthcare and data research.
This video series is part of the HEREDITARY voices series.
Episode 1. Clinical tools for diagnosis
In this first episode, Stephen McNamara explains how they are trying to find ocular biomarkers that are able to connect imaging in the eye to broader systemic diseases, such as Parkinson. By looking at images and scans from the back of the eye, they can ultimately determine whether someone has a neurodegenerative disease now or in a near future. In that way, invasive imaging or testing can be avoided, eliminating the uncertainties surrounding these diagnoses.
Episode 2. The Eye: The mirror of the body
The research group is making diagnoses and establishing connections between the whole body from a detailed analysis of the eye. By doing so, it increases certainty about different diseases, improves predictions and helps patients receive specific therapies and treatments.
Episode 3. Information, AI and Decision Making
Information is key, not only to train models to make better disease predictions, but also to ensure that patients are aware of these new scientific treatments and how it can affect their lives. Transparency becomes increasingly relevant in a world where AI is a new and evolving feature.
by Admin | Nov 18, 2024 | Events, Hereditary
In the framework of Work Package 5: Visual Analytics and Interaction, Graz University of Technology (WP5 leader) presented the poster DROPLETS: A Marker Design for visually enhancing Local Cluster Associations on Sunday 13 October as part of a submission to the Bio+MedVis Challenge at IEEE VIS 2024.
The research of TU Graz, focused on the visualisation of high dimensional data, received an award for the novelty and innovative Visualization technique design. It was presented by Stefan Lengauer in a virtual format, who is one of the authors along with Peter Waldert and Tobias Schreck. The summary poster, the full publication, the video presentation and the source code for generating the Droplets layout are available and can be consulted.
This year’s objective of the Bio+MedVis Challenge was to redesign an existing visualization of multi-cell gene expressions of tissue samples. In this, multiple cells are accumulated into pixels. For each pixel, the visualization should convey the prevalence and extent of cell types it is composed of in a proportional relation. The provided baseline technique of superimposed Pie charts limits the perception of regions with coherent cell-type compositions, which constitutes one of the essential visual analytics tasks.
As a response, TU Graz proposed a novel marker design: DROPLETS, a space-saving design for visually enhancing the presence of clusters and regional borders. This concept was evaluated for the given tissue sample and compared with the given baseline and other alternatives.
About the IEEE VIS 2024
IEEE VIS 2024 was the year’s premier forum for advances in theory, methods, and applications of visualization and visual analytics. The conference convened an international community of researchers and practitioners from universities, government, and industry to exchange recent findings on the design and use of visualization tools.
Join us and TU Graz to learn more about Hereditary Project and how visualization techniques help to face the critical challenge of leveraging multimodal health data.
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