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
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.
by Admin | Apr 13, 2026 | Hereditary
How are our gut and brain connected, and how does this relationship influence the way we think, feel and behave? Within the HEREDITARY project, this question is at the heart of ongoing research in Work Package 2, where partners are exploring the complex interplay between microbiota, brain activity, and human behaviour.
The Deliverable 2.4: Linkage and feature extraction from gut-brain, intermediate evaluation, led by Radboud University Medical Center, marks an important step forward in this journey. Building on earlier work, it provides new evidence that combining multimodal data with advanced AI can reveal meaningful patterns linking the gut and the brain, bringing us closer to understanding this intricate biological system.
From data to discovery: integrating the gut and the brain
At the core of this research lies a simple but ambitious idea: to move beyond isolated measurements, and, instead, analyse the gut and brain as a connected system.
To achieve this, HEREDITARY researchers worked with data from the Healthy Brain Study (HBS), a large cohort of deeply characterised individuals. By combining brain imaging (resting-state fMRI), gut microbiota profiles, and behavioural and physiological data, the team applied a supervised multimodal data integration method (an advanced AI method) known as SuperBigFLICA, an extension of Linked Independent Component Analysis (LICA), designed to work with large-scale, heterogeneous datasets. This approach allows researchers to identify latent components (shared patterns across different types of data), which, in this context, correspond to hidden structures in the data that capture how microbiome composition, brain connectivity, and individual behavioural are interrelated.
One of the most relevant outcomes of this work is the identification of robust gut-brain components (multivariate patterns that simultaneously involve microbiome features and brain activity). In particular, one component revealed a strong interaction between gut microbial composition, brain networks linked to reward and emotion (such as limbic and default mode networks), and health and behavioural measures such as anxiety sensitivity, life stress, and Body Mass Index (BMI).
In an independant validation, this component was also able to predict food-related behaviour from an independent task. This task reflects how individuals value unhealthy vs. healthy food, and their likelihood of choosing unhealthy options. These findings validate the feasibility of supervised multimodal integration and identify promising biological targets for follow-up analyses. It shows that gut–brain interactions are not only measurable, but also meaningfully linked to real-life behaviour.
Advancing Use Cases 4 and 5
These findings directly contribute to HEREDITARY’s Use Case 4 and lay the groundwork for Use Case 5.
- Use Case 4 focuses on understanding gut–brain interactions in healthy populations. The intermediate results confirm that it is possible to identify stable and biologically meaningful gut–brain patterns at population scale.
- Use Case 5 will extend this approach to clinical data, exploring whether similar patterns can explain variations in mental health conditions and maladaptive behaviours, with broader applications in the prediction of other gut (.eg. Ulcerative Colitis) and brain related conditions (e.g. depressive episodes).
What comes next?
The work does not stop here. The HEREDITARY project will evaluate the robustness of the discovered components, apply them to broader clinical data, and extend analyses to metabolic markers and future hypotheses-driven studies on stress, diet, and hedonic eating. It will directly address disease relevance by examining whether the same multivariate gut–brain components explain variation in psychopathology and maladaptive eating in psychiatric populations.
The next phase of the research will deepen the analysis of how gut–brain interactions relate to behaviour. These analyses will continue to leverage multimodal datasets (including brain imaging, microbiome data, stress responses and behavioural tasks) to further explore how stress, anxiety and dietary factors influence food choices through gut–brain mechanisms, and how the interaction between the gut microbiome and reward-related brain connectivity contributes to stress-related eating patterns in daily life. In parallel, future work will focus on defining what constitutes a “healthy” gut–brain profile and ensuring robust clinical interpretation of results.
by Admin | Apr 7, 2026 | Citizen Science and Public Engagement
This interview was conducted by OBSERVA, a partner in the HEREDITARY consortium, as part of its efforts to promote citizen engagement and give visibility to the voices of people living with neurodegenerative diseases. In this first part of a three-part full interview, Dolores Ayala Velázquez shares her personal journey, reflecting on how her scientific background intersects with her experience as a patient and how she navigates the daily challenges of living with Progressive Bulbar Palsy (PBP).
Could you briefly tell us your personal story and how your experience as a patient and your scientific training coexist within it?
I am a person with extensive academic training and experience in teaching, research, and cultural outreach. I hold Bachelor’s, Master’s, and Doctoral degrees in Science, specializing in Physics, particularly Statistical Physics, Fluid Theory, and Auditory Acoustics. I have also completed several diplomas in Education, Teaching, Family, and Counseling for individuals from childhood to old age. I also hold a Bachelor’s degree in Religious Studies. I was a teacher for 50 years.
I have a beautiful family consisting of my husband, our two daughters and one son, and three grandchildren in their teens.
In 2021, the symptoms of dyslalia gradually appeared, making it increasingly difficult for me to express myself freely and fluently. As I spoke, my voice became hoarse, losing its tone, timbre, and volume, making it impossible for my listeners to understand me. Regarding food, I knew I couldn’t drink any cold liquids because I would choke, although I could still manage to drink hot tea or punch. Dry foods like rice and stringy foods like meat would get stuck in my throat; sometimes I could eat them, and other times I couldn’t.
In 2022, a speech therapist diagnosed me with dysphagia and dyslalia. This marked the beginning of the process to determine the diagnosis of my condition, which took nearly two years, that is Progressive Bulbar Palsy (PBP), thankfully not Bulbar ALS. However, I still fear that it could develop due to the uncertainty surrounding the understanding of these diseases.
The aspect of how my experience as a patient and my scientific training coexist is a very interesting question for me, because my first reaction upon receiving the news of ALS and that I had about three years to live, was to think that what I had done before was not useful to face this reality, therefore, I had wasted my life on things that did not serve me and I began to wonder what I could do to give meaning to my life in just three years.
It was a very painful experience. It took me several months to realize I was wrong and that everything I had learned and the effort it took to achieve it were valuable because they are part of who I am. So, I am not defenseless; rather, I possess extensive training in addressing, understanding, and resolving complex problems. So ALS is just one more complex problem, with initial conditions and treatment strategies yet to be defined, regardless of what the specialists say, who, from experience, I know aren’t always right. Instead of becoming more saddened or letting the weight of a neurodegenerative disease crush me, I decided to research everything known about it, to understand its effects on the body and learn how to manage it.
From your perspective, what does it mean to live with a neurodegenerative disease beyond the clinical aspect?
From my experience, living with a neurodegenerative disease like PBP means dealing with the daily challenges posed by my diet, speech, saliva management, facial expression, and posture, among others.
- Nutrition. While I was able to eat enough to nourish my body and allow it to perform its vital functions, and to have some energy to think, move, and maintain a degree of independence, my weight remained stable (for one year and eight months). As the situation worsened and I consumed what little I ate simply through the effort of eating, I began to lose weight rapidly (from 60 kg to 47 kg in seven months). I was so lacking in energy that I had poor balance, I felt dizzy when turning my head, and I looked listless, very tired, and vulnerable. The ultra-protein, ultra-calorie diet recommended by the nutritionist helped me begin to regain weight. Then I understood the function of the gastrostomy, which several specialists had tried to explain to me, but without telling me: “Your difficulties eating orally can put your life at risk.” Since June 2024 I have had a gastrostomy tube through which I receive the ultra-protein and ultra-calorie food that my body requires and I have regained my weight, in fact I now weigh 62 kg. Switching from oral feeding to tube feeding has important implications, because depending on the digestive process I can go from constipation to loose stools, also considering substitutes like fiber and laxatives, which must be adapted each day to the particular needs of my body and in these I am the only specialist, and it is not convenient for me to leave the responsibility in the hands of the gastroenterologist or the nutritionist, because unexpected and very uncomfortable accidents can happen to me.
- Speech and communication. To speak, I use my mouth, and it’s constantly filled with excessive saliva, which is sometimes more like mucus or phlegm because of how thick it gets. Besides its consistency, saliva plays a very important role in speech, particularly in where it concentrates. When it’s in the oral cavity, I can produce sounds with my chest and head, but the saliva makes them sound nasal and muffled, which makes them difficult to understand. If phlegm concentrates between the soft palate, pharynx, and tongue, producing sounds becomes more difficult. This is because, feeling a blockage in the throat that also affects the vocal cords, it is harder to produce sounds with the chest, and impossible to do so with the head due to the blockage caused by the thick membrane of phlegm, which seems to be boiling in a witch’s cauldron and makes me feel like I am suffocating because air cannot pass through either the airway or the mouth. It’s easy to imagine that under these conditions, the sounds I produce end up being the noises of a monster from beyond the grave, no matter how hard I try to articulate them correctly. Thus, the intelligibility of my speech is chaotic; at times it might be more or less understandable, but then it shifts to otherworldly, nonsensical sounds. There’s an additional, very serious problem: the psychological and emotional impact of hearing myself speak. Because while I’m talking to myself, my voice sounds clear and crisp as before, and I even forget how I’m speaking as I utter the words out loud. I admit that sometimes I feel like crying, and other times like despairing. Fortunately, I manage to control myself and find (or am asked to use) the whiteboard or the phone app to communicate my ideas.
- Saliva management. Besides the difficulties saliva creates when I speak, it’s difficult to control it with my lips. Previously, I couldn’t even close my lips, much less achieve the necessary lip seal to contain saliva and food; I was constantly drooling. Now it happens intermittently, when the amount of saliva is excessive and I can’t manage it in my mouth. But in both cases, I need to have a cloth handy to dry my mouth and remove the excess saliva. Experiencing this when I’m alone is desperate, distressing, uncomfortable, and annoying, and when I’m around others, it feels embarrassing and inappropriate. I imagine it must be disgusting or repulsive to them, which makes me feel even worse. In fact, I find it incredible that with all the medical resources available, no alternative ways have been found to control excessive saliva production, beyond botulinum toxin, which doesn’t work for some of us.
- Facial expression. I like to smile to show the joy I feel in life and knowing that I am loved in a special way by God. Between 2019 and 2020, I was still giving talks via webinars or Zoom. On one occasion, one of my daughters, who was watching me from her computer, sent me a message saying, “Mommy, please smile, you look sad and your cheeks are droopy like a Saint Bernard’s.” Initially, I didn’t understand what she meant, but I made an effort to smile more during the talk. Then it dawned on me that she was referring to our dogs, with their droopy cheeks and sad, drooling faces. After the conference, I decided to look in the mirror to confirm what my daughter had told me, and sure enough, even though I was “smiling,” all you could see was my expressionless, wooden face. This really affected me, and I worked hard to get my smile back, which I finally managed after a period of sustained effort and dedication.
- Posture. Believe it or not, while I was eating only through my mouth, I never felt like I couldn’t support my head with my neck. It wasn’t until shortly after they inserted the feeding tube that I started to feel my head getting heavy and tilting to one side, and now it happens more frequently, for example, after I take a bath. I have to be very careful to prevent it from tilting to one side.
Are you part of a patient association or community? Could you briefly describe it (size, location, main activities)?
No. In the process of identifying the diagnosis of my disease, I had the opportunity to attend the ALS Clinic at the Mayo Clinic in Florida and it made a very good impression on me. There, they told me about two organizations in Mexico City that we could contact to join a community with ALS patients. We got in touch with the Foundation that serves people with limited financial resources, and since it’s located on the opposite side of our city, we’ve focused on helping the families by giving them food baskets to celebrate Christmas. The second association required us to register beforehand, before establishing contact and communicating with its representatives. Given our circumstances, this didn’t seem appropriate, and we decided against following their procedures. This association has greater financial and educational resources and a website with useful information.
Truthfully, I fear contact because I have always been and am an empathetic person (I have the diagnosis of being highly sensitive), now that I feel vulnerable and can barely cope with my own problem, it seems to me that the suffering of others is extreme and I begin to devalue my situation and think “I should do this, I could do that, I need to overcome this other thing”, and it increases my tension and anguish.
What role do you think patient communities play in research and in the daily lives of those living with these diseases?
Nearly 40 years ago, my husband and I founded the non-profit organization Oirá y Hablará (Hear and Speak) to support parents and other family members of deaf children in helping them reach their full potential and integrate into society, without their disability being a limiting factor. This happened when we learned that our son had profound deafness with a speech threshold of 95 dB. As physicists, my husband and I could provide scientific, technical, and human support through our own experience as parents of a little boy of just three years old, who had to learn to communicate and develop his potential to survive in life. But the most important thing about Oirá y Hablará were the experiences that the parents, siblings, uncles, and grandparents shared with us about their interaction with their little ones with limited hearing, from funny anecdotes to very profound lessons, which made us reflect and encouraged us not to be defeated by difficult situations and to keep going, enthusiastically and joyfully taking advantage of the experiences that we received month after month at the association meeting.
Based on these experiences and my own current one, I believe these communities possess a legacy of knowledge about the impact of illness on each individual, because we know its effects are individual, different for each person, depending on their physical, psychological, cultural, and emotional state. Furthermore, the difficulties we face and the harm caused by the ego and superiority attitudes of some of the specialists who treat us – doctors, scientists, technicians, and therapists – and also by some caregivers, are not taken into account.
What the sick person needs is respect, closeness, and understanding. But it seems they forget that we are people with the same dignity as children of God as those who do not suffer from any of these illnesses. We need to be heard and have our voices heard, because what we have to say is very valuable, so valuable that no one else can express it as we can. Despite our difficulty in communicating it, we patients are the experts on what we feel physically, mentally, and emotionally each day, because it’s about our experiences, pains, and personal difficulties that we encounter moment after moment. If mice are closely observed when used as guinea pigs to test drugs or equipment, the least we can expect is that we, as human beings, are actively listened to and taken seriously, because we are the primary and genuine source of information for specialists.
In my opinion, specialists would greatly benefit from learning about the experiences and difficulties faced by people with ALS, for example, those who share their stories at meetings of associations for people with similar illnesses. This knowledge can help specialists reassess the situation of the person or people in their care and provide them with valuable insights and ingenious ideas on how to resolve unforeseen or difficult situations that others have already encountered. Furthermore, the staff of these institutions possess a wealth of knowledge and experience regarding the symptoms, attitudes, feelings, and specific situations of people with rare diseases, which can be extremely useful when developing research projects.
by Admin | Mar 3, 2026 | Hereditary
The HEREDITARY project has been granted 40,000 credits from the European Open Science Cloud (EOSC EU Node) to support, among other things, its federated learning activities within a secure European research infrastructure.
About the EOSC EU Node
The European Open Science Cloud (EOSC EU Node) is the operational platform of the EOSC Federation, designed to facilitate open, collaborative and data-driven research in Europe. It supports multidisciplinary scientific work by providing access to digital research services such as computing and storage resources, containerized environments, and collaborative tools through institutional credentials. The platform promotes the sharing and reuse of research outputs in a secure, GDPR-compliant cloud ecosystem based on FAIR data principles and a credit-based access model.
The awarded credits will be used to deploy and maintain the central server required for federated learning experiments on EOSC virtual machines. Federated learning allows multiple institutions to collaboratively train machine learning models without sharing sensitive data. By using EOSC infrastructure, HEREDITARY can efficiently manage firewall configurations and incoming connections, overcoming common technical barriers associated with institutional IT restrictions.
The EOSC EU Node credits will support several weeks of experimentation, with server configurations adapted to different model sizes and algorithmic requirements. In parallel, HEREDITARY is exploring the development of an API-based solution that would allow researchers to deploy experiment-specific software containers through the EOSC Cloud Container platform. This approach aims to streamline workflows, facilitate testing and deployment, and potentially deliver open-source tools that could benefit the broader research community.
by Admin | Feb 24, 2026 | Hereditary
How can hospitals collaborate on sensitive medical data without ever sharing the data itself? This is the core question behind Federated Learning (FL), and one of the key technological pillars of the HEREDITARY project.
Over the past two years, HEREDITARY has progressively designed, deployed and tested a federated learning infrastructure capable of connecting medical centres across Europe while ensuring that raw patient data never leaves its original location. What began as a technical design challenge has now evolved into a secure network supporting distributed machine learning experiments across heterogeneous datasets.
Building the Foundations: Computing Infrastructures
Federated Learning only works if each participating centre has the technical capacity to train models locally and communicate securely with the rest of the network. The first step was ensuring this. Under Deliverable D2.14 in Month 9 and lead by SURF, partners established secure computing infrastructures capable of handling sensitive clinical and genomic data, equipping centres with appropriate storage, processing power and secure communication channels. Thanks to this, data owners can process data locally, train models without centralising records and exchange model updates securely within the federation.
With local infrastructures in place, the next step was to design and validate the full federated learning architecture. Deliverable D2.11 in Month 18 presents a federated infrastructure that is secure, flexible and deployable across heterogeneous environments, including high-performance computing systems and cloud platforms. Encrypted communication via gRPC/TLS was implemented to protect model exchanges, while Secure Aggregation mechanisms (SecAgg/SecAgg+) were integrated to prevent the central server from accessing individual model updates.
The system was engineered to support both horizontal federated learning (same data types across centres) and vertical federated learning (different data modalities distributed across centres). Dedicated project workshops demonstrated that both approaches could run successfully across geographically distributed nodes, even when accounting for network latency between countries. By Month 18, HEREDITARY had a federated network capable of running both horizontal and vertical learning experiments on ALS data, without moving any raw records.
Securing the Communication: Communication Protocols
Security does not stop at this point. Deliverable D2.15 in Month 22 dives deeper into how model updates are protected during training. SURF analysed and validated advanced communication protocols within the federated learning framework. Three key mechanisms were the driving force behind this:
- Secure Aggregation ensures that the server can combine model updates without seeing any individual contribution. Clients (Medical Centres) mask their updates using cryptographic techniques so that when all updates are aggregated, the masks cancel out, but no single update can be inspected independently. Tests showed no significant decrease in model performance, with only a modest increase in runtime due to additional communication steps.
- Differential Privacy was also evaluated, introducing controlled noise to model updates to further reduce the risk of information leakage, again with minimal performance degradation.
- Trusted Execution Environments were explored as an additional layer of security, though their hardware requirements make them less practical in heterogeneous clinical environments.
Beyond Simulation: paving the way for actual implementation
One key lesson emerging from this work is that federated learning is relatively straightforward in simulation, but deploying it across real institutions introduces new challenges: hardware variability, network latency across countries, IT coordination and regulatory compliance. Through interactive workshops and live experiments, HEREDITARY has moved beyond theoretical experimentation to operational deployment.
Today, the project operates a federated network linking multimodal clinical data without centralising any raw records. Advanced AI models can be trained across distributed datasets and privacy-enhancing technologies can be implemented with limited performance trade-offs. The infrastructure is reliable, secure and resilient. This “data stays at source” approach aligns closely with the principles of the European Health Data Space, demonstrating that privacy-preserving, cross-border health data collaboration is technically feasible.
The next step will arrive in June 2026, when the project moves from validated design to consolidated implementation. Deliverable D2.12 will formalise the full implementation of the federated infrastructure, while Federated Learning will demonstrate its clinical relevance through Deliverable D2.17, presenting intermediate results from the neurodegenerative use cases. Together, these upcoming milestone will mark a transition from infrastructure validation to scientific and clinical impact.
Learn more about Federated Learning in the following video, where Douwe van der Wal (SURF) and Henning Müller (HES-SO Valais) share their insights and perspectives on the topic:
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