by Admin | Aug 6, 2026 | Hereditary
The University of Colorado Anschutz Medical Campus (CU Anschutz), HEREDITARY’s only U.S. partner, has published a new article showcasing its contribution to the project and the potential of AI to support the early detection of Parkinson’s disease through retinal imaging.
Within HEREDITARY, researchers at the Sue Anschutz-Rodgers Eye Center are investigating whether AI can identify retinal biomarkers associated with neurodegenerative diseases such as Parkinson’s disease and multiple sclerosis. By combining retinal images with other clinical and biomedical data, the team aims to develop multimodal AI models that could contribute to earlier, less invasive diagnosis.
The article also highlights the role of federated learning, a key approach within HEREDITARY that enables institutions to collaboratively train AI models while keeping sensitive patient data securely at their original locations. This privacy-preserving methodology allows researchers across the consortium to build more robust and reliable models without sharing raw clinical data.
As HEREDITARY’s only U.S.-based partner, CU Anschutz brings internationally recognised expertise in ophthalmic AI, oculomics, and federated learning, strengthening the consortium’s efforts to better understand the gut-brain axis and advance research into neurodegenerative diseases.
Want to learn more about CU Anschutz’s contribution to HEREDITARY? Read the full article on their website. READ NOW!
by Admin | Jul 29, 2026 | Hereditary
Artificial Intelligence is transforming biomedical research, but innovation alone is not enough. To unlock the full potential of health data, researchers must also ensure that new technologies are developed responsibly, transparensively, and in full alignment with Europe’s evolving legal and ethical framework.
This is the focus of HEREDITARY Deliverable 7.2, an in-depth legal and ethical study that moves beyond theoretical compliance to analyse how European legislation applies to the project’s real-world research activities and federated architecture. Building on the foundations established in Deliverable 7.1, the study assesses how HEREDITARY’s technologies align with the latest European regulations while identifying the challenges that must still be addressed as the project progresses.
GDPR remains at the heart of HEREDITARY
One of the main conclusions of the study is that the General Data Protection Regulation (GDPR) continues to be the cornerstone governing the project’s processing of health and genetic data.
HEREDITARY’s federated approach supports several key GDPR principles, including data minimisation, privacy by design, and reducing the need to transfer sensitive information between institutions. By keeping patient data within each participating organisation, the project significantly reduces many traditional data-sharing risks.
However, federated learning is not automatically GDPR compliant. Even when raw data never leaves local institutions, model parameters, analytical outputs or derived inferences may still reveal personal information under certain circumstances. For this reason, GDPR compliance must be ensured throughout the entire data lifecycle, including data collection, local processing, federated model training, analytics, output generation, storage, and cross border collaboration.
Preparing for the European Health Data Space
Another major focus of Deliverable 7.2 is the European Health Data Space (EHDS), one of the EU’s flagship initiatives for enabling secure secondary use of health data across Europe.
The analysis concludes that HEREDITARY is already strongly aligned with many of the EHDS objectives. Its emphasis on interoperability, privacy-preserving data analysis and federated infrastructures positions the project as a promising contributor to future European health data ecosystems, including potential integration with HealthData@EU infrastructures.
AI Act: responsible AI goes beyond today’s requirements
Because HEREDITARY currently operates as a research infrastructure, many obligations introduced by the AI Act are likely to remain limited during the project’s research phase. Nevertheless, the Deliverable stresses that this situation is dynamic. If AI components developed within HEREDITARY eventually evolve into clinical decision-support tools or become deployed in operational healthcare settings, additional regulatory requirements related to risk management, transparency, human oversight and conformity assessment could become applicable.
This forward-looking assessment allows the consortium to anticipate future obligations long before technologies reach clinical practice.
DGA & NIS2: Governance and cybersecurity as key enablers
The Data Governance Act (DGA) reinforces principles that closely match HEREDITARY’s federated design, promoting secure processing environments, interoperability, responsible reuse of protected datasets and transparent governance mechanisms. Meanwhile, the NIS2 Directive highlights the growing importance of cybersecurity in distributed health data infrastructures.
Federated learning offers important privacy advantages, but it also introduces new types of cybersecurity risks, including model poisoning, inference attacks and parameter leakage. The study concludes that cybersecurity, data protection and governance must be addressed as an integrated framework, recognising that protecting health data is both a legal obligation and a prerequisite for trustworthy biomedical research.
Looking beyond compliance: ethics in federated AI
HEREDITARY combines genomics, artificial intelligence and cross-border health research. This makes ethical governance essential throughout the project. The study identifies ongoing challenges related to fairness, transparency, explainability, accountability, informed participation and responsible stewardship of research data.
Federated architectures substantially reduce the need for centralised data sharing, but they do not eliminate ethical risks associated with bias, re-identification, opaque AI models or the downstream use of research outputs. These issues require continuous assessment as both technologies and regulations evolve.
Bringing regulation closer to real-world research
One of the most valuable contributions of Deliverable 7.2 is its Use Case-Specific Analysis, presented in Annex 3.
Instead of relying on abstract legal interpretation, WP7 evaluates how European regulations apply to the concrete research scenarios developed across HEREDITARY’s five clinical use cases. It connects legal analysis directly with real technical workflows. This practical assessment also addresses one of the consortium’s previously identified governance gaps: situations where one partner’s analytical tools are applied to another partner’s datasets within the federated infrastructure.
These findings will now guide the final phase of Work Package 7, where the consortium will identify the remaining regulatory and ethical gaps and develop concrete recommendations to ensure that the HEREDITARY framework remains not only innovative, but also compliant, trustworthy and sustainable for future healthcare research across Europe.
by Admin | Jul 20, 2026 | Hereditary
Imagine two hospitals collecting information about patients with the same neurological disease. Both have valuable data for researchers, perhaps to find a better treatment. Both are willing to collaborate with researchers. And yet, nobody outside these hospitals know exactly what data exist or whether they could help them in their research of the disease. As a result, these two potentially valuable datasets remain invisible, even though they could contribute to improving the life of the patients.
This is one of the less visible, but most important, challenges in modern biomedical research.Before researchers can analyse data, they first need to know that the data exist. That is where FAIRification comes in. Check out the following video, in which Marcos Casado, Senior Metadata Bioinformatician at EMBL-EBI, explains it:
Within HEREDITARY, Work Package 3 is not only building the technological infrastructure for federated analytics and semantic interoperability. It is also ensuring that the project’s data resources become easier to find, understand and reuse, while always respecting privacy, institutional ownership and legal requirements. This work was included in Deliverable D3.6, FAIRification of Participating Data Resources, and the successful achievement of Milestone 7 at the end of 2025.
FAIR does not mean open. Sensitive clinical and genomic data often cannot leave the institutions that generated them, due to legal and ethical constraints. HEREDITARY’s proposed FAIRification focuses on making datasets discoverable, before access to sensitive data is even considered. This way, researchers can understand what information exists, under which conditions it may be accessed and how it relates to other resources, without exposing any sensitive information. In essence, it promotes collaboration across institutions while respecting the aforementioned constraints.
Making this possible begins with something that may seem surprisingly simple: describing data better. Every dataset carries information beyond the measurements themselves, such as how it was generated, what variables it contains, which standards were used or under which conditions it can be shared. This information, known as metadata, acts as a guide for both researchers and computers. HEREDITARY works to harmonise these descriptions using internationally recognised standards and controlled vocabularies, creating a common language that allows clinical, genomic and imaging datasets to be understood consistently across institutions and countries.
Beyond the project itself, FAIRification also prepares HEREDITARY for future European collaboration. To achieve this, the project aligns its metadata with internationally recognised frameworks and recommendations, including those promoted by the 1+ Million Genomes initiative (1+MG), the Global Alliance for Genomics and Health (GA4GH) and the European Health Data Space (EHDS). These shared standards ensure that today’s datasets can continue supporting tomorrow’s research. In this way, HEREDITARY is not only developing new technologies, but also contributing to a more connected, interoperable and trustworthy European research ecosystem.
Over the past two years, the project has assessed participating datasets and implemented practical FAIRification workflows adapted to different situations. Some of the results presented in Deliverable 3.6 are:
- Richer metadata descriptions for consortium datasets.
- Harmonisation of metadata across participating institutions.
- Preparation of selected datasets for deposition in the European Genome-phenome Archive (EGA).
- Publication of metadata records following European HealthDCAT-AP recommendations.
- Reusable FAIRification workflows for future datasets.
- Quality assessment procedures to monitor improvements over time.
If you would like to explore FAIRification in more detail, check out how FAIRification moves from theory to real-world implementation in biomedical research:
FAIRification is about ensuring that valuable health data remain discoverable, understandable and reusable while fully complying with the General Data Protection Regulation (GDPR) and respecting the autonomy of the institutions that generate them. By building on internationally recognised standards, trusted repositories and established European infrastructures, HEREDITARY is creating the conditions for future scientific collaboration that extends well beyond the lifetime of the project. Combined with semantic interoperability, federated analytics and privacy-preserving infrastructures, FAIRification forms another essential pillar of HEREDITARY’s vision: enabling a more connected, trustworthy and collaborative ecosystem for biomedical research across Europe.
by Admin | Jul 10, 2026 | Hereditary
The HEREDITARY project has reached another important milestone in its third year by delivering a new set of scientific and technical results to the European Commission. At Month 30, the consortium has completed six key deliverables that reinforce the project’s vision of enabling secure, privacy-preserving and multimodal research on neurodegenerative diseases across Europe.
These results represent significant progress across several work packages, ranging from clinical use cases and federated infrastructures to artificial intelligence, legal and ethical frameworks, and privacy-preserving analytics.
From data preparation to federated multimodal ALS research
One of the most relevant achievements is the publication of D2.17: Neurodegenerative Use Cases: Intermediate Results, led by the University of Torino (UNITO). This deliverable marks an important step towards federated multimodal research on neurodegenerative diseases. Using Amyotrophic Lateral Sclerosis (ALS) as its main demonstrator, the deliverable shows how HEREDITARY is moving from use-case design to operational data readiness, integrating FAIRified datasets, semantic interoperability through the HERO ontology, privacy-preserving genomic discovery, and biological insights into a common framework for federated research. Another important aspect of this work is the systematic inclusion of sex-disaggregated analyses, helping identify biological differences that may influence disease progression, diagnosis or treatment response.
The deliverable also outlines the project’s roadmap for ontology-enabled multimodal patient stratification, combining advanced machine learning and semantic technologies to support future federated analyses across institutions. In doing so, it validates Milestone 9 and establishes the scientific and technical foundations for the next phase of HEREDITARY’s neurodegenerative use cases.
Building trustworthy federated AI through privacy-preserving analytics
The newly released D3.8: Privacy-preserving Analytics: First Release, coordinated by Aalborg University (AAU), presents the first implementation of the privacy-preserving technologies that will be integrated into HEREDITARY’s federated analytics and machine learning platform.
The report describes how multiple complementary privacy technologies, including differential privacy, secure aggregation and homomorphic encryption, can be combined to protect sensitive information while still enabling collaborative data analysis across institutions. Beyond describing the underlying algorithms, the deliverable introduces mechanisms to continuously monitor privacy risks during federated computations and evaluates how different protection levels can be adapted depending on the analytical workflow.
These developments establish the privacy layer that will support future federated AI models and formally achieve Milestone MS10, dedicated to privacy-preserving methods within HEREDITARY.
Combining biomedical data for more accurate AI models
The publication of D4.5: Multimodal Learning Methods, led by Radboud University Medical Center (RUMC), presents a new set of computational tools and machine learning methods for multimodal biomedical analysis focused on gut health.
The deliverable also evaluates different strategies for combining histopathology, microbiome and clinical data. The results show that integrating histopathology with fecal microbiome data provides the strongest predictive performance, establishing an important methodological baseline for future multimodal analyses within HEREDITARY. The deliverable also foresees the incremental publication of trained models through Grand Challenge platforms and as open-source software, supporting transparency, reproducibility and collaboration within the scientific community.
Strengthening ethical and legal foundations for European health data sharing
The consortium has released D7.2: In-depth Legal and Ethical Study, coordinated by KU Leuven, which expands the initial legal and ethical inventory developed earlier in the project.
The report analyses the regulatory challenges associated with federated research infrastructures, including GDPR compliance, secondary use of health data, governance responsibilities and cross-organisational collaboration. Rather than providing only theoretical guidance, the study evaluates these issues across HEREDITARY’s clinical use cases, offering practical recommendations for implementing secure “tool-over-data” approaches where algorithms travel to the data instead of transferring sensitive datasets.
Complementing the legal study, the consortium has also published the updated D2.2: Ethical Guidelines, Data Collection and Sharing. The document revises the project’s ethical guidance based on the experience gained during the first half of the project and reflects the evolving requirements for federated model training and multicentre collaboration. It updates recommendations for data sharing, incorporates revised procedures for prospective data collection where necessary and strengthens the links between ethical governance activities and the project’s wider regulatory framework.
Federated infrastructure Implementation
In parallel, the consortium has successfully submitted D2.12: Federated Infrastructure Implementation, marking another important technical achievement for the project. This deliverable advances the implementation of HEREDITARY’s federated infrastructure, which enables secure distributed analysis across participating institutions without centralising sensitive data. Although the deliverable has been officially delivered to the European Commission, it is not yet publicly available because parts of its content are currently under scientific review and publication.
Looking ahead
These new deliverables illustrate how HEREDITARY continues to transform its scientific vision into practical technologies and validated methodologies.
By simultaneously advancing federated infrastructures, privacy-preserving AI, multimodal machine learning, integrated clinical research and trustworthy governance frameworks, the project is steadily building an ecosystem where researchers can collaborate across Europe while keeping sensitive health data protected. As the project moves towards its next phase, these achievements provide a solid foundation for the forthcoming demonstrations, validation activities and clinical applications that will further accelerate innovation in neurodegenerative disease research.
by Admin | Jun 9, 2026 | Hereditary
One of the biggest challenges in HEREDITARY is not only to collect and secure integrate data, but also to make sense of it.
Researchers, clinicians, policymakers and citizens are increasingly confronted with vast amounts of information coming from medical images, genetic data, microbiome profiles, electronic health records, simulations and many other sources. While these datasets hold enormous potential to advance our understanding of health and disease, their complexity can make them difficult to interpret and use effectively.
This is where HEREDITARY’s Work Package 5 (WP5), coordinated by TU Graz, comes in. Through the development of innovative visual analytics methods and interactive exploration tools, WP5 helps transform complex multimodal data into understandable insights that can support research, prevention and decision-making across the healthcare ecosystem.
Today, we are excited to showcase a big result coming from this work: the launch of the HEREDITARY Demos & Visualisation Components Portal, publicly available at: https://demos.hereditary-project.eu/.
From research prototypes to publicly accessible demonstrators
Over the last two years, WP5 has progressively transformed visualisation concepts into operational demonstrators and interactive applications.
The developments reported in a series of deliverables (D5.1, D5.2, D5.3 & D5.4) include visualisation components for:
- High-dimensional biomedical data.
- Knowledge graphs and semantic resources.
- Brain imaging and spatial data.
- Time-series and biosignal analysis.
- Simulation and modelling outputs.
- Natural language-assisted visual analytics.
A key principle throughout this work has been openness and reusability. To make these developments accessible to a broader audience, TU Graz has established a dedicated demonstrator infrastructure that hosts and deploys visual analytics applications developed within HEREDITARY. The new Demos & Visualisation Components Portal now brings many of these innovations together in a single public entry point.
Created through close collaboration between TU Graz and partners across the consortium, including experts in medical research, federated infrastructures, machine learning, data management and semantic technologies, the portal demonstrates how advanced visual analytics can support the exploration of multimodal health data. The portal currently includes 15 demonstrators, videos (in some cases) and code (available in most of them), from semantic exploration and cohort analysis to brain imaging, machine learning interpretation and simulation-based research.
Exploring the gut-brain connection through visual analytics
Among the flagship developments showcased in the portal is the Gut Brain Explorer, an advanced visual analytics application designed to explore relationships between gut microbiota and brain activity.
The tool combines multiple linked visualisations to allow researchers to investigate outputs generated through Linked Independent Component Analysis (LICA), integrating microbiome information with functional brain imaging data. Users can interactively explore microbiota distributions, modality contributions and brain activity patterns through coordinated views.
The component has already demonstrated its scientific value during project evaluations, supporting researchers in identifying biologically relevant gut-brain associations.
Making complex biomedical data easier to explore
Several other demonstrators address complementary challenges in data exploration and interpretation.
Clusters in Focus helps researchers identify and compare meaningful patient subgroups within high-dimensional biomedical datasets, supporting tasks such as biomarker discovery and phenotyping.
Neurodegen-Vis combines interactive visual analytics with LLM-powered assistance to support the exploration of healthcare datasets. The tool enables users to investigate correlations and dependencies in medical data while receiving guidance through natural language interaction. Privacy-preserving mechanisms are integrated to protect sensitive information.
OnSET (Ontology and Semantic Exploration Toolkit) helps users navigate complex knowledge graphs and ontologies through natural language querying and visual graph exploration, making semantic resources more accessible to non-experts.
Building trust through transparency and interaction
One of HEREDITARY’s core ambitions is to ensure that advanced AI and data-driven methods remain understandable and trustworthy for the people who use them. Visualisation plays a crucial role in achieving this goal.
By allowing users to interact directly with data, inspect results, understand relationships and explore evidence behind conclusions, visual analytics can help make complex technologies more transparent and interpretable. This is particularly important in healthcare, where trust, explainability and human oversight remain essential.
As HEREDITARY progresses, new demonstrators and functionalities will continue to be added, further expanding the ecosystem of tools available for exploring multimodal biomedical data, semantic resources and AI-driven analyses.
🔗 Explore all the demonstrators and get in touch with the team responsible for each one: https://demos.hereditary-project.eu/
by Admin | Jun 5, 2026 | Citizen Science and Public Engagement
On 30 June 2026 (14:00 to 17:00 CEST), the HEREDITARY project will host the HEREDITARY Advocacy Workshop, an online event led by the European Brain Council (EBC) that will bring together researchers, patient advocates, policymakers and civil society representatives from across Europe to explore the connection between scientific research and European policymaking.
The workshop will provide a unique opportunity for participants working in areas related to brain diseases, neurodegenerative disorders, the gut-brain axis, artificial intelligence, and health data governance to better understand how scientific expertise can inform policy discussions and decision-making processes at the European level.
Designed as an interactive and engaging event, the program combines expert insights, multi-stakeholder dialogue and hands-on activities that encourage participants to explore the science–policy interface from different perspectives.
Bridging the Gap: Neuroscience Research and EU Policy
The first session will introduce participants to the European policymaking landscape and explore how scientific evidence contributes to legislative and regulatory developments. Through concrete examples and case studies, participants will gain insights into key EU policies relevant to brain and hereditary disease research. The session will also address emerging neuroethical challenges at the intersection of genetics, neuroscience and public policy.
From Research Findings to Policy: Panel Discussion and Q&A
An interactive panel discussion will bring together perspectives from policy, research and civil society to discuss how scientific findings can be translated into policy-relevant dialogue. Speakers will explore effective science communication, engagement with EU institutions and opportunities for researchers interested in contributing to policymaking throughout their careers. A live Q&A session will allow participants to engage directly with the panelists.
The Policy Table: Stakeholder Simulation Exercise
In the final session, participants will take part in a policy simulation exercise inspired by real-world challenges related to hereditary brain diseases, neurodegenerative disorders, gut-brain health, AI diagnostics and other HEREDITARY research themes. By assuming the roles of different stakeholders, including researchers, patient advocates, policymakers, legal experts and industry representatives, participants will experience firsthand the complexities of policy negotiations and decision-making processes.
How to participate
The HEREDITARY Advocacy Workshop offers an excellent opportunity to connect with stakeholders across sectors, gain a deeper understanding of the European policy landscape and explore how research can contribute to societal impact beyond the laboratory.
Participation is free of charge, and researchers, policymakers, patient advocates and civil society representatives are particularly encouraged to take part.
REGISTER NOW
Check out the PRELIMINARY AGENDA
by Admin | May 21, 2026 | Citizen Science and Public Engagement, Hereditary
Observa Science in Society, one of the partners in our consortium, has released a special edition of Observa Magazine entirely dedicated to the themes and research activities of the HEREDITARY project.
The publication explores the impact of digital technologies on healthcare and society, focusing on topics such as citizen science, digital health, AI, and the use of health data in research. The magazine also examines how healthcare systems are increasingly moving towards prevention, personalized medicine, and continuous health monitoring through digital tools and platforms.
One of the central topics addressed in the publication is the importance of citizen science and public participation in scientific research. The issue presents findings from studies on public opinion, showing that many citizens are willing to contribute to research activities by making their health and personal data available, particularly when data sharing can support medical progress and improve healthcare outcomes.
At the same time, the magazine addresses important ethical and social challenges linked to digital health, including privacy protection, transparency, data governance, and the growing role of large technology companies in the management of health-related information.
The publication is available in both Italian and English. You can access HERE.
by Admin | May 5, 2026 | Citizen Science and Public Engagement
This latest edition of the full interview with Dolores Ayala, in which she previously discussed her personal experience of living with Progressive Bulbar Palsy (PBP), and how technology and care affect disease management, highlight the importance of patient voices in research, care and innovation. Conducted by OBSERVA under Citizen Participation activities in HEREDITARY project, Dolores shares her reflections on communication between patients, healthcare professionals and researchers, as well as the ethical challenges that should be addressed to ensure dignity, understanding and meaningful participation.
How do you rate the communication between healthcare professionals, researchers, and patients? What could be improved?
Generally, the hierarchy is top-down, with healthcare professionals at the top, followed by researchers, and in the worst cases, a dispute between the two for first place. Thirdly, there’s the disease, the treatment, the technique, and so on. And, sadly, the patient is relegated to last place, often objectified, so much so that they aren’t even allowed to express their opinion. In some hospitals, the “specialists” never address the patient, only the accompanying person, creating an experience of violence by rendering the suffering person invisible.
In your opinion, how are neurodegenerative diseases communicated to the public today, and what aspects are oversimplified or omitted?
Continuing with the issue of the hierarchical structure established by these systems, some neurologists, believing themselves to belong to a very high, privileged class, seem to disregard the patient’s capacity to understand the situation and instead deliver the diagnosis to their companion: “They have ALS, it’s a very serious disease. There’s nothing that can be done. They only have a few years to live.” Faced with such a statement, one wonders: What is ALS? What will happen to me? What can I expect? How will I be treated? What should I do to take care of myself? Who should I turn to? And so on. But they don’t even allow for these questions.
With a little more detail, the diagnosis could be given like this: “You have ALS, a degenerative motor neuron disease, which means that it will paralyze your body’s muscles. And you will need special care and attention throughout the process.” It would be ideal if everyone who has a degenerative disease could find specialists who see the patient as one of their own and who are empathetic, approachable, and compassionate. These specialists should ensure they offer the patient a sense of closeness and look them in the eye with tenderness before delivering the diagnosis, speaking slowly and gently, making sure that both the patient and their family understand every word spoken, and allowing them the opportunity to ask for clarification or ask their own questions until they grasp the magnitude of the disease and begin to see the path ahead.
It is important to reassure patients that they are not alone and that they will be helped to integrate into a team of professionals with different specialties, who will support and guide them through the various stages of the disease. Furthermore, it is essential to be prepared to answer the same questions as many times as necessary until the person with a neurodegenerative disease, their family, and caregivers have fully understood them and each person knows their role. This can be done with the collaboration of some members of the care and support team established to assist the person in question.
What do you consider to be the main ethical challenges in research on neurodegenerative diseases?
Here are the ones that come to mind:
- Ensure respect for the dignity, uniqueness, and identity of the person with a neurodegenerative disease.
- Treat them with humanity, dignity, and attentiveness (address the person directly and strive to understand them; speaking only with family members is insufficient). Never ignore the person or speak of them as if they weren’t present.
- Offer all relevant information in an understandable way.
- Give the person the opportunity to express their doubts, fears, and experiences, and value them.
- Request the person’s permission before giving explanations to residents, and never lose sight of the fact that the person must be at the center of attention, care, and research processes. Beyond research protocols and treatments, the quality of treatment and care that must be ensured for each person should never be overlooked.
- Do not place undue emphasis on the potential benefits of the protocols, but neither should you paint apocalyptic scenarios that kill hope and destroy the person’s mental strength.
- Assume the ethical duty to conduct continuous evaluations throughout the entire process and to report on them, the processes, the progress, and the results at all stages of the research protocols.
- Provide the person with psycho-emotional support before, during, and after the research process.
- Address their doubts, fears, and decisions, and consider the supporting evidence, respecting and prioritizing them, even if they decide not to continue participating in the research.
- Avoid any action or attitude that belittles or further harms the person with ED.
- Their rights to know the diagnosis and to make decisions about the treatments and interventions they will undergo must be respected.
- The way in which the diagnosis is communicated can influence the psychological and emotional state of the affected person and, therefore, how they face the future.
- It is recommended to refer to the disease by its name (e.g., Amyotrophic Lateral Sclerosis, Degenerative Disease X), explaining its degenerative nature.
- It is advisable to emphasize the positive aspects and the fact that no two people are affected in the same way with the same symptoms.
- When presenting therapeutic options, information should be clearly provided regarding their actual effectiveness, possible side effects, alternative therapies, and current research.
- Furthermore, the person with a neurodegenerative disease should be informed about the implications of the treatment, including whether its effectiveness has been demonstrated and its cost.
- The following objectives should be met when communicating the diagnosis:
- Do not deny the patient any information they request.
- Do not force information on them that they do not wish to hear.
- Consider the patient’s reactions to the information provided.
- Once the diagnosis has been communicated, it is recommended to seek a second opinion to confirm or rule it out.
- Doctors should refer the person with a neurodegenerative disease to the appropriate specialists for their diagnosed condition immediately. (It took me two years to find a specialist in neurodegenerative diseases (and therefore, in PBP), while for months I was seen in the next cubicle at the hospital by a specialist in muscular diseases.)
- Caution is needed when diagnosing “rare” diseases, and attention must be paid to recognizing potential limitations and diagnostic errors. I was originally told I had ALS, which seemed like a death sentence, but now the evidence points to PBP, which has a better life expectancy. The emotional impact can indeed accelerate a patient’s decline.
Looking to the future, what changes do you consider priorities —at a technological, ethical or social level— to improve the quality of life of patients?
In all three areas – ethical, technological, and social – it is fundamental to recognize and prioritize the person with a degenerative disease because, in addition to everything mentioned previously, they are essentially relational human beings. Which means that communication and interaction with others are as essential to their well-being as nourishment. They need to be able to see their neurologist and other specialists as allies: approachable, kind, and compassionate individuals who can support, care for, and explain everything about their condition. These specialists should use their empathy, kindness, and knowledge in a simple and humane way, fostering trust and the certainty that they are genuinely interested in the person, to allow for consultations, tests, and the application of technology to become moments of dialogue and closeness, like a family gathering. In this way, the person with a degenerative disease will feel accompanied and supported every step of the way throughout the course of their illness, without fear and with confidence in the entire team working with them. This helps the degenerative disease to take a back seat, and the person feels relaxed and more motivated to do their part without delay or excuses.
It is essential that healthcare institutions receive and welcome people with degenerative diseases with the utmost respect and instill in them the understanding that they are there to help them in every way possible so they can have the best quality of life. Furthermore, these institutions must commit to securing economic, educational, therapeutic, psychological, transportation, and social assistance support from civil authorities so that these individuals can live a dignified, peaceful, and well-supported life. A life that can truly be called high-quality.
by Admin | Apr 28, 2026 | Hereditary
How can researchers study complex diseases across Europe when sensitive and health data cannot leave hospitals or research centres and speaks several languages?
This is one of the key challenges HEREDITARY is addressing, and part of the answer lies in a powerful combination of a federated learning infrastructure, semantic integration and federated analytics.
In this new #DeCoding article, we take a closer look at how Work Package 3 (WP3) is building the foundations that make this possible: the Hereditary Ontology (HERO) and the Hereditary Data Network (HDN).
From federated learning to federated analytics
In a previous #DeCoding article, we explored federated learning, a method that allows AI models to be trained across multiple institutions without centralising raw data. But before researchers can analyse data across institutions, they need to ensure they are actually talking about the same things. In healthcare, the same clinical concept can be recorded differently depending on the hospital, the specialty, or even the country. This makes it difficult to combine or compare data.
To solve this, HEREDITARY has developed the Hereditary Ontology (HERO): a shared semantic layer that provides a common language for all partners. This allows different datasets to be understood in a consistent way. It enables researchers to formulate questions without needing to know local database structures, by integrating clinical, genomic and imaging data into a unified conceptual model, covering key neurological diseases domains, such as Amyotrophic lateral sclerosis (ALS) and Multiple sclerosis (MS), and designed to expand to others like Parkinson’s and Alzheimer’s.
This semantic integration is essential: without it, federated analytics wouldn’t be possible.
From data silos to a connected network
Building on this ontology, HEREDITARY has developed the Hereditary Data Network (HDN), a federated infrastructure that allows data to be analysed across institutions while remaining locally stored. Data stays where it is, but knowledge can travel. Instead of moving individual patient data to a central repository, HDN enables researchers to send queries to different institutions and receive aggregated results. It is based on a central component that coordinates queries, local endpoints at each institution that execute them on their own data and results that are returned and combined, without exposing sensitive information.
This approach represents a fully federated and privacy-by-design architecture. Privacy controls are integrated in the query processing layer of HDN:
- Each query is assessed before running and it is automatically assigned with a privacy risk score.
- Each institution decides what are the risk thresholds they can safely handle.
- If a query exceeds that thresholds, no data is returned or privacy mitigation measures are applied.
This ensures that data owners remain in full control, while still enabling meaningful research across institutions.
How federated analytics works in practice?
A researcher might ask a question like: “What is the average age at onset of ALS patients?”.
Instead of accessing a central database, the system:
- Translates the question into a standardised query using HERO.
- Sends it to multiple institutions.
- Executes it locally at each site.
- Returns aggregated results.
- Combines them into a single answer, obtaining a response that incorporate insights across different datasets while respecting privacy and institutional autonomy.
Progress so far and what comes next
By now, HEREDITARY has already made significant progress. The project has delivered the first version of its federated workflow execution methods (D3.2) and demonstrated how semantic integration and federated querying can work together. Also, the HDN prototype has shown that distributed queries can be executed across heterogeneous datasets, integrating privacy-aware query mechanisms. For those with a technical interest, various resources relating to these developments can be found on the project’s Open Hub.
Looking ahead, the project is focusing on scaling and real-world deployment. Over the first half of 2026, HDN endpoints are being installed across several partners (University of Turin, Radboud University Medical Centre and University of Colorado), enabling future live queries on real datasets. The goal is to have a fully operational federated query system running at consortium level by the end of 2026, along with a shared catalogue of queries and a clear maintenance plan.
Ultimately, what HEREDITARY is building goes beyond technology. It is a new way of doing research in several fields: one where data does not need to move to generate knowledge, where institutions can collaborate without losing control and privacy, and where complexity is managed through shared understanding. The Federated analytics layer, powered by HERO and the HDN, is a key step in that direction.
Learn more about Federated Analytics in the following videos, where our coordinator, Gianmaria Silvello (University of Padova) and Daniele Dell’Aglio (Aalborg University) share their insights and perspectives on the topic:
by Admin | Apr 21, 2026 | Citizen Science and Public Engagement
As part of HEREDITARY’s commitment to citizen participation, OBSERVA conducted this interview to explore how people living with neurodegenerative diseases experience care and technology in their daily lives, under Work Package 6 activities. In this second part of a three-part full interview, prof. Dolores Ayala Velázquez reflects on the role of caregivers and the impact of different technologies in managing symptoms, offering a unique perspective that bridges lived experience and scientific understanding.
How would you describe the role of caregivers (family members or professionals), and what do you think are their main needs today?
Caregivers must be approachable, prosocial, and empathetic individuals willing to accompany the patient, listen to them, make them laugh, and help them feel good most of the time, without neglecting their caregiving responsibilities. These include assisting with daily activities, administering medications and meals on schedule, always with the patient’s consent and after consulting them, so they feel that things are being done on their own initiative, without any imposition. Caregivers should avoid any attitude of superiority, authority, or vanity, and always strive for the patient’s peace, tranquility, and physical, mental, and emotional comfort.
I would like to share an anecdote. When my daughter suggested hiring a nurse for the days she was busy teaching, I agreed, though not entirely convinced. I felt it would restrict my freedom and independence, and, in other words, make me feel more vulnerable. This led me to avoid speaking to the nurse during the first few sessions and to appear as serious as possible. I felt increasingly uncomfortable with this attitude until I realized the nurse wasn’t to blame. We had hired her to ensure I had everything I needed: food, medication, supplements, exercise, and, most importantly, companionship. So, I couldn’t be ungrateful and needed to change my approach. Two or three sessions later the nurse told me that I had scared her because I was so organized, perfectionist and rigid and that she had thought she was not going to continue treating me, but since the other people around me treated me so well and I them, she thought, “maybe she will treat me well too.” I apologized and told her I had noticed her fear around me. Since then, when she comes to give me my medicine or food, she says, “I know fear makes me make mistakes, but I know they don’t make you angry and that they make you laugh, so I’m not worried about making mistakes anymore.” Sometimes we have deep conversations; she’s patient with me and interested in what I think and feel. We appreciate each other; she says she’s always learning from me, and I, for my part, am grateful for the lesson in humanity she gave me by showing up and putting up with my indifference.
From your experience, what technologies have had a real positive impact on the lives of patients with neurodegenerative diseases?
I can talk about the work my swallowing therapist and I are doing. She’s a true specialist in swallowing, phonation, speech, and articulation therapies. She frequently attends conferences, seminars, and workshops to stay up-to-date. As for me, being unfamiliar with neurodegenerative diseases, I’m eager to read everything I can find on the subject, and I also conduct ongoing documentary research, even using artificial intelligence, though I consult carefully to avoid low-quality materials. This is the context of our interaction. Now I’ll move on to the technology we’ve been implementing.
First, I used TENS to stimulate (either tense or relax) some of the muscles in my mouth (especially my tongue), face, and neck. Knowing the correct mode, frequency, and intensity to use, we achieved excellent results, both in relaxing (I like to say untying knots) the muscles and in providing them with the necessary tension to function correctly. It’s a slow and gradual process that doesn’t leave a permanent effect because there’s always the progressivity of PBP, which moves regardless of our efforts to stop it. However, I can say that although we haven’t managed to overcome it, we have managed to contain it, so that some muscles in my face and mouth have remembered what they should do and perform it after a small stimulus.
Another very useful tool is ultrasound, which prepares a muscle area so that the muscles respond on their own or to stimulation from another instrument, facilitating the production of sounds and the appropriate swallowing action.
The VitalStim is a device with several functions that essentially assists swallowing to make it more efficient, as well as the production of sounds, suction, and airflow, all aimed at facilitating swallowing and supporting the movement of the muscles involved in speech sound production.
We also use low-frequency laser to stimulate different areas of the brain, strengthen the development of healthy motor neurons, and promote their connection with specific muscles, such as the vagus nerve, which has numerous connections in the face, limbs, and digestive system. When the laser is used in an upward motion on the motor area, I noticeably reduce saliva production in my mouth. However, when it’s used in a downward motion, saliva spurts from all the salivary glands, and I have to employ certain strategies to control and manage it. On the other hand, when used on my forehead, it gives me a feeling of well-being and tranquility that lasts for a couple of days.
To remove some of the phlegm and saliva during the day, I use a device that suctions it out (aspirator). At night, I also use a CIPAP that continuously provides me with air to prevent sleep apnea, which could damage my brain.
I forgot to mention that we also use simpler mechanical instruments like hot or cold massagers, which have had a very positive impact on the responses of my soft palate and tongue, loosening it from the tight, hard, and contracted state it has at the beginning of some sessions. This has allowed it to extend laterally, touch and move beyond my upper and lower teeth, and even reach my lips—a remarkable feat considering it was paralyzed and seemed impossible to move. Among these tools are also the resistance bands we use to exercise my neck muscles, keeping them active and able to properly support my head. They also help move phlegm in my throat, making it easier to swallow and articulate some phonemes that are very difficult for me.
In my opinion, PBP and ALS in general deserve more attention from neuroscientists, not only to declare that what they do is right, but also to deepen the knowledge of these neurodegenerative diseases and the contributions of technology to the management and control of symptoms and even to the control of the disease itself.
I recently met a neurologist who uses Repetitive Transcranial Magnetic Stimulation Neuromodulation (there are two or three other methods), who claims it can be effective in modifying nerve activity in specific areas to relieve pain or restore brain function. He gave me a preliminary test and found responses to the device’s high intensity. We are going to continue the treatment with four weekly sessions for a total of four weeks. I don’t yet have experimental evidence of its benefits, but I expect to have it next February.
Therefore, I can affirm that the knowledge, use, and objective analysis of the results of employing different technologies for the care of neurodegenerative diseases is an important path to advance in their treatment, with a view to slowing them down and controlling them.
Are there any risks or limitations in the use of the technology that, as a patient and scientist, you consider important to point out?
Yes, there are, especially if the person applying it is not aware of the optimal conditions of use, such as its calibration, optimal range of its variables as well as the duration of each application, errors can be made such as tiring the patient or subjecting them to excessive tension, and what is worse, applying it incorrectly, causing some irreversible damage.
These risks may be more frequent because some therapists and doctors, despite claiming to be specialists, are unfamiliar with the physics and operation of some of the devices they use. For example, when we began working with deaf children at Oirá y Hablará, we discovered that many were using hearing aids so poorly adjusted that the intense, low-frequency sound bothered them. Instead of helping them hear, these devices were actually increasing their hearing loss. Having the devices at full volume, without considering the frequency range and maximum intensity required to help them hear speech sounds, was causing greater and irreversible damage to their auditory nerve. The brain has a very difficult time weaning itself off receiving bombardments of sound that are completely useless for auditory rehabilitation.
Another example I experienced: a lab technician and a speech therapist were suffocating me, and instead of realizing the difficulty they were putting me in and attending to my requests for help, they complained that I was “not cooperating”.
I believe the most advisable course of action is to conduct a formal, collaborative investigation, with the participation of the entire team of specialists supporting the patient, including the patient, their caregivers, and family members. This investigation should include a precise account of the patient’s initial condition and any adverse factors that may influence the outcome, in order to monitor and address them continuously and promptly. The patient must be the priority, followed by the disease, the technology, and the specialist.
Furthermore, the evaluation of procedures and results at each stage of the research process is essential.
In order to obtain reliable results that can be extended to other cases with similar situations, it is essential to have sufficient high-quality, objective and subjective (we are dealing with people) and positive data on the cases studied, taking into account the age, physical, mental and psychological condition of each person with whom we have worked, as well as the optimal conditions for using the equipment, without trying to reach areas closer or further away from the previously studied intervals and in which there is a guarantee that new users will not be harmed by the use of the technology.
How do you experience the issue of privacy and the management of personal and health data in the context of research and new technologies?
In the case of a formal research project, I assume that the privacy and management of personal and health data will be handled with absolute discretion, so I haven’t worried about that aspect. However, there is a risk that the data could be used for non-scientific purposes, for example, to highlight the benefits of a particular procedure, a technological device, or to promote personal or brand prestige. In that case, I would be concerned and would view everything with caution, demanding that the agreed-upon conditions for conducting the research be met.
Recent Comments