by Admin | May 5, 2025 | Hereditary
The HEREDITARY project is pleased to announce that it has entered into a collaboration agreement with DataGEMS (“Data Discovery Platform with Generalized Exploratory, Management, and Search Capabilities”), a project funded by the European Union’s Horizon Europe Research and Innovation Programme. They also focus on the world of data, aiming to offer a next-generation dataset discovery and management ecosystem that will provide algorithms to make datasets more accessible: discoverable, combinable and explorable.
DataGEMS develops quick and easy access to data with natural language and machine learning technology to discover, link and analyse datasets of different data modalities (such as tabular data, text documents, knowledge graphs, and images). The main goal is to gain new insights into vast amounts of complex and heterogeneous data sets by providing intuitive tools, as HEREDITARY intends to do with large volumes of multi-modal health data. DataGEMS also promotes data FAIRness in key areas such as education, meteorology and linguistics.
This agreement, effective from May 5, 2025, until December 31, 2027, establishes a framework for voluntary cooperation between the two projects. It aims to harness their complementary technical strengths to advance data discovery and integration in health research.
From a technical angle, the collaboration between HEREDITARY and DataGEMS will focus on improving data discovery methods, co-developing advanced data profiling methods, facilitating researcher exchanges, expected joint publications, and promoting the development of use cases based on open data, all while ensuring compliance with GDPR. This collaboration reflects the shared commitment of both projects to leverage their strengths and push the boundaries of data discovery in health research.
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 | 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 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.
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