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Interview with prof. Dolores Ayala Velázquez: communication challenges in neurodegenerative diseases

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.

Interview with prof. Dolores Ayala Velázquez: technology and care in neurodegenerative diseases from a patient’s perspective

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.

Interview with prof. Dolores Ayala Velázquez: living with Progressive Bulbar Palsy (PBP)

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.

HEREDITARY releases “World Café Outcome: Priorities and Gaps” Report

by Admin | Jan 13, 2026 | Citizen Science and Public Engagement, Hereditary

HEREDITARY‘s ‘World Café Outcome: Priorities and Gaps’ report was released. The report captures key insights from a dynamic World Café session held on October 16, 2025, during EBC‘s Brain Innovation Days. Diverse stakeholders, including researchers, healthcare professionals, innovators, individuals with lived experience, and patient organisation representatives, collaborated to identify solutions to challenges in multimodal health data integration, explainability of AI-based risk prediction models, and metadata alignment in a federated environment. Highlights include strategies for data standardisation, inclusive data collection, cross-sectoral collaboration, ethical AI tools, and balancing EU regulation processes to advance health research and inform brain health policy decisions.

Project representatives of the Harnessing Health Data Cluster had a chance to exchange views on the topics via interactive discussions, and three key insights were identified at the end of the meeting:

  • Greater standardisation is needed at every stage of the data lifecycle (from data collection and analysis to sharing), along with clearer documentation of data sources.
  • Providing education and training for healthcare professionals on required data elements can support standardisation and collection of high-quality, usable data.
  • Empowering patients in data sharing consent processes and building awareness of underrepresented populations fosters patient inclusion in research.

Read the full outcomes of the HEREDITARY World Café in the REPORT.

HEREDITARY Project showcases innovation at RIES Forum and Brain Innovation Days

by Admin | Oct 20, 2025 | Citizen Science and Public Engagement, Events, Hereditary

Last week, the HEREDITARY Project took part in two major European health innovation events: the X RIES Forum in Galicia, Spain, and the 5th Brain Innovation Days in Brussels, Belgium, both held on 15–16 October 2025. The project presence reaffirmed its commitment to collaboration and ethical data use across Europe.

The RIES Forum is a leading platform that brings together leaders from across the healthcare value chain to address international challenges in the health ecosystem. Organised by the Cluster Saúde de Galicia (CSG), the forum focuses on digitalisation, sustainability, and internationalisation of healthcare and promotes debate, innovation, and international cooperation.

The Brain Innovation Days, organised by the European Brain Council (EBC), are an international forum that gathers researchers, clinicians, policymakers, and industry stakeholders to discuss advances in brain research, neuroscience, and healthcare innovation. The 2025 edition focused on “The Adaptive Brain in a Fast-Evolving World”, exploring how science, technology, and society interact to support brain health.

RIES Forum 2025: International Challenges of the Health Ecosystem

During RIES2025, the HEREDITARY project took part in the roundtable “Health 2030: Advancing Towards Precision Medicine,” a dynamic session that brought together leading voices from healthcare innovation, data science, and genomics. Moderated by Anna Forment, Director of Digital Health and Head of Precision Medicine at NTT DATA Europe, the discussion explored how data-driven technologies are reshaping the future of healthcare.

The panel featured María Brión Martínez (Xenoma Galicia Project Coordinator), Abeer Fadda (Bioinformatics Lead at the European Genome-phenome Archive and researcher in the HEREDITARY project), Román López Seoane (PM4GOV, Ministry of Health’s Genomic Node SIGenES), and Prabs Arumugam (Clinical Innovation Lead, AWS UK Public Sector Healthcare). Together, they shared insights into how precision medicine is evolving through the smart and ethical use of genomic and clinical data.

   

A central theme of the conversation was the crucial role of data in building the future of precision medicine. Health systems generate vast and diverse datasets, but the real challenge lies in making them interoperable and secure, ensuring both privacy and accesibility. The panel also emphasized the need for multidisciplinary professional profiles that combine biomedical and genomic knowledge with data science and digital skills. Speakers underlined the huge opportunity to advance data sharing across hospitals, regions, and countries through federated data models, as HEREDITARY aims to do in the Federated Networking Infrastructure.

Finally, some areas in which precision medicina is doing great advances were highlighted, such as oncology and the study of rare diseases. The discussion perfectly reflected the collaborative and forward-looking spirit driving initiatives like RIES2025 and the European research landscape.

In addition, HEREDITARY engaged visitors at its exhibition stand, managed by FEUGA, the project’s communication leader, showcasing the project’s activities, vision, and expected impact, and providing a platform for dialogue with attendees from diverse fields of the health ecosystem.

   

HEREDITARY World Café at Brain Innovation Days

HEREDITARY hosted a World Café session at the Brain Innovation Days on 16 October, designed as an interactive format where participants rotated across tables to discuss key topics such as data privacy, multimodal health data integration, and AI-powered solutions. The session brought together a diverse group of patients, innovators, healthcare professionals, policymakers, and researchers, fostering open dialogue on how data-driven innovation can better serve people and improve brain and health outcomes.

Discussions underscored the importance of integrating diverse health data, to enable more personalised and human-centred care. Participants also emphasised the need for equitable representation in research, ensuring that data and clinical studies reflect the diversity of European populations.

Another key theme was co-creation and collaboration, recognising that innovation in healthcare requires all voices at the table, including patients whose lived experience can shape more relevant and impactful solutions. Conversations also explored the design of ethical and trustworthy AI, built with patients to ensure transparency, fairness, and clinical value, as well as the delicate balance between privacy and scientific progress.

At the end of the day, a HEREDITARY representative reported key insights from the session on the main stage, highlighting the value of collaborative dialogue in advancing brain and health research.

   

With its participation in both the RIES Forum and Brain Innovation Days, the HEREDITARY Project continues to expand its European reach, reinforcing networks and partnerships while promoting responsible and innovative approaches to genomic and health data.

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