Member: Clinicians

Lena Zeltner, University Hospital Tübingen, Germany

In this edition of “Meet the members”, we interview Lena Zeltner from Centre for Rare Neurological Diseases, Tübingen (ZSNE), Universitäts Klinikum Tübingen, Germany . She will tell us a bit more about her work and the importance of diagnosing a rare disease.

I am a physician specialised in neurology and I´m working at the centre of rare diseases in Tübingen (ZSE). Every day I deal with enquiries from doctors and patients with suspected  rare diseases. These patients are always discussed in interdisciplinary case conferences involving human genetic physicians. If we suspect a rare disease, we see these patients in our interdisciplinary consultation hour for unknown diagnoses and then often initiate further diagnostic, for example, exome diagnostic.

One of our patients was a 20 year old woman. Her early childhood development was delayed; later her main problems were abnormal social behaviour and episodic agitation.

She was diagnosed with Asperger-Syndrome and a reduced intelligent quotient. Her parents did really suffer from the situation because they could not see a reason for their daughter’s problematic behaviour and they assumed miseducation as causative. Due to exome-based genetic diagnostic we could diagnose a rare genetic neurodevelopmental disorder characterized by delayed psychomotor development and autism or autistic features. Knowing the reason of their daughter’s problems was a real relief for the parents, although no specific therapy exists.

This case shows the importance of diagnosing rare diseases because the described case had no therapeutic consequences but major social consequences and as a result improved disease handling.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Ginevra Zanni, Bambino Gesù Children’s Hospital, Rome, Italy

In this edition of “Meet the members”, we interview Ginevra Zanni, neurogeneticist at  Bambino Gesù Children’s Hospital, Rome, Italy and ERN-RND member.
She tells us a bit more about her work and interests as well as why it is important to raise awareness of rare diseases.

Ginevra Zanni MD. PhDMember of the European Reference Network – Rare Neurological
Diseases (ERN-RND) and other international networks for the
study of Ataxias.
Staff Medical and Research Scientist at the Department of
Neurosciences, Bambino Gesù Children’s Hospital, Rome, Italy.

My scientific carrier has been devoted to the screening and
identification of new genes involved in rare neurodevelopmental
disorders and to the characterization of physiopathological
mechanisms and genotype- phenotype correlates. I currently
mainly work on pediatric ataxias and neurodevelopmental
disorders.

The loss of Oligoprenin-1 (OPHN1) causes intellectual disability and cerebellar hypoplasia. To better understand this rare disorder, we established OPHN1-patients induced pluripotent stem cells (iPSCs) and rescued the cellular phenotype by treatment with inhibitors of the ROCK pathway. Thanks to the initiative of patients and their families we have launched dedicated websites for informing patients and developing new projects. The OPHN1 website in Italian can be found here and the english version here

It is really important to raise awareness about rare diseases. To achieve it, a constant, motivated and effective collaboration between patients’ families, policy makers and rare disease professionals is essential.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Sophie Bernichtein, Brain-Team, France

In this edition of “Meet the members”, we interview Sophie Bernichtein, project manager of  BRAIN-TEAM (French network for rare diseases of the nervous system with a cognitive or motor expression), Paris, France
and ERN-RND member. She tells us a bit more about BRAIN-TEAM and how they raise awareness of rare diseases in France.

As project manager of the French Network for Rare Neurological Diseases “BRAIN-TEAM”, one of my tasks is to coordinate projects of all french reference centers which have been labeled by the French ministry of health for their high expertise in rare neurological diseases. This coordination is done along with any other partners that could be involved in this field of rare diseases. The BRAIN-TEAM is also a member of the European Reference Network for Rare Neurological Diseases (ERN-RND).

Together with my 6 colleagues from BRAIN-TEAM, our everyday work is to build the most effective network of partners as well as to favor the best innovative projects for rare neurological pathologies related to: medical and social care, training of professionals, translational research, info dissemination and co-working with patient associations.

BRAIN-TEAM is less than 5 years old but still, I am proud to have been able to propose the first action towards general practitioners since GPs play a central role in the care journey of rare disease patients. Along with the other French Network for Rare Diseases, we regularly attend national congresses of GPs, senior but also young practitioners and GPs medical students. In 2019, we were glad to be invited as special guest to the Opening Keynote Lecture of the 13th Congress of French GP in Paris.

The goals of such public awareness campaign are manifold, among them tackling stigma and patient discrimination but the most important for me is to put the light on rare diseases to favor policymakers, to enhance research promotion, improving access to and uptake of treatments. Rare disease patients are not rare in numbers, and the engagement of the “rare community” has to be visible at least a day per year!

Click here to find out more about BRAIN-TEAM.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Yaroslau Compta, Hospital Clínic de Barcelona, Spain

In this edition of “Meet the members”, we interview Yaroslau Compta, neurologist at the Hospital Clínic of Barcelona, Spain part of the ERN-RND “Dystonias, NBIA, Paroxysmal Disorders” as well as “Atypical Parkinsonism: MSA, PSP, Genetic Parkinson’s Disease” Disease Groups (DG). He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

Please briefly introduce yourself and your hospital.

My name is Yaroslau Compta. I got my MD degree in 2002 and my PhD in 2013 at University of Barcelona. In 2006 I got my Neurology specialization at Hospital Clínic de Barcelona, a university and reference Hospital with a long history and tradition in teaching, care and research.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

I am a consultant at the Parkinson’s disease and Movement Disorders Unit of the Neurology Service of Hospital Clínic de Barcelona. As such my medical expertise and specific field of interest are movement disorders, which range from frequent conditions (Parkinson’s disease, essential tremor) to rare disease (in my case chiefly dystonias and atypical parkinsonisms). Particularly I work in biomarkers (molecular and imaging) of and clinical trials in progressive supranuclear palsy, corticibasal degeneration and multiple system atrophy. Recently I have also gained interest in health and therapeutic education programs for these conditions working with the advanced practice nurse of our team and other health professionals.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

What I like most is that it merges clinical work with research and teaching, and especially with regard to rare diseases that there is still a long way to go which allows for contributing to knowledge not only by means of sophisticated methods, but also with careful clinical observation.

3. How do you participate in ERN-RND?

I am part of the groups of dystonia and atypical parkinsonsims.

4. What are your expectations for the network?

That it will imply improved care and also research all across the continent, with shared resources and avenues for collaboration, from registries to clinical trials, as well as teaching to junior staff and also networking with other specialists, general practitioners, advanced practice nurses, geriatricians, and other health professionals.

5. How do you think patients and clinicians can work together/why do you think it is important?

Designing not only better care (from thinking about how refurbishing facilities to how organizing clinics, particularly interdisciplinary ones) but also research: topics of interest (from studies on pathophysiology and pharmacological clinical trials to most-needed studies on non-pharmacological approaches and therapeutic education programs, as well as care in the community, outside the university hospital settings, particularly in end-stage disease).

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Samuel Gröschel, University Children’s Hospital, Tübingen, Germany

In this edition of “Meet the members”, we interview Samuel Gröschel, child neurologist at the University Children’s Hospital in Tübingen, Germany and one of the coordinators of the ERN-RND Leukodystrophies Disease Group (DG). He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

1.What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

I am a child neurologist, working in the University Children’s Hospital in Tübingen, Germany. My area of expertise is in rare neurological disorders in childhood, especially in leukodystrophies. I’ve started my interest in leukodystrophies already during medical school in Göttingen, continuing in London at Great Ormond Street and now have been conducting this work in Tübingen, with a focus on Metachromatic Leukodystrophy.

2. What do you like most about your work/biggest challenge specially in regards to working on rare diseases?

It is a privilege to witness an era of new developments for treatment of rare neurological diseases in childhood. As a clinician, I see my contribution in research for trial readiness, describing the natural history, establishing meaningful outcome parameters and biomarkers as well as building disease databases. In my view, exchanging expert knowledge and working in networks is crucial for this development.

3. How do you participate in ERN-RND?

I am coordinating the disease group “leukodystrophies” in the ERN-RND, together with Dr Caroline Sevin, where we develop and exchange clinical standards for leukodystrophies. In addition, ERN-RND provides a valuable IT platform for secure discussions of clinical cases, where I participate as a leukodystrophy expert.

4. What are your expectations for the network?

By facilitating access to specialised expert knowledge and exchange between expert centers for rare neurological diseases, the ERN-RND network can contribute to improved patient care and clinical research for trial readiness.

5. How do you think patients and clinicians can work together?

On the one hand, ERN-RND can improve patient care and provide families and local physicians with better access to expert centers. On the other hand, we as clinicians often experience that parents of affected children support, motivate and even initiate research for trial readiness, also via patient advocate groups. For me, this productive interaction between clinicians and patients is a big motivation for my work.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Jorik Nonnekes, Radboud University Medical Centre, the Netherlands

In this edition of “Meet the members”, we interview Jorik Nonnekes, consultant in rehabilitation medicine at the Radboud University Medical Centre and Sint Maartenskliniek, the Netherlands. He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

My name is Jorik Nonnekes and I work as a consultant in rehabilitation medicine at the Radboud University Medical Centre and Sint Maartenskliniek, both located in Nijmegen, the Netherlands. Both my clinical and scientific work focuses on gait and balance impairments in people with neurological diseases, with specific emphasis on gait impairments in Parkinson’s disease, rare and inherited movement disorders (hereditary spastic paraplegia and spinocerebellar ataxia) and stroke. My aim to improve the quality of life of people with gait impairments is the drive behind my work.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I do love the combination of clinical and scientific work. On the same day I try to provide the best possible care for a person with a rare neurological disorder (e.g. hereditary spastic paraplegia), while also being involved in exciting studies that aim to further improve clinical care for these people in the near future. As there is so much heterogeneity in rare neurological disease, the biggest challenge is to personalize treatment, and to translate this personalized approach into scientific studies.

3. How do you participate in ERN-RND?

I participate in ERN-RND by being one of the coordinators of the working group on neurorehabilitation. Last year, I gave a ERN-RND webinar on the management of gait impairments in hereditary spastic paraplegia and this year I will provide a webinar on the sign-based approach to functional gait impairments.

4. What are your expectations for the network?

When we want to improve the care for people with rare neurological disorders, collaboration is key. Specifically, I hope that we can improve neurorehabilitation for rare neurological disorders, for example by making it more evidence-based.

5. How do you think patients and clinicians can work together/why do you think it is important?

Collaboration between patients and clinician is of utmost importance. On a weekly basis I get inspired by anecdotes from patients, which fuel my research ideas. I have noticed that scientific research becomes better when patients are involved from the start.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Bélen Perez Dueñas, Hospital Vall d’Hebrón, Barcelona, Spain

In this edition of “Meet the members”, we interview Belén Perez Dueñas, pediatric neurologist at Hospital Vall d’Hebrón in Barcelona, Spain. She will tell us a bit more about her work in the hospital, within ERN-RND and her expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

I am a scientist and pediatric neurologist at Hospital Vall d’Hebrón in Barcelona. At the Pediatric Neurology Department, we are a national-leading group committed to provide the best care to children with complex neurological conditions, and to apply research and innovation to clinical healthcare.

I have been a pediatric neurologist since 2006. From the beginning, I was interested in rare metabolic and genetic conditions causing developmental delay, neurological deterioration and complex motor disorders. I have led several multi-center projects on inborn errors of metabolism, vitamin sensitive encephalopathies, neurodegeneration with brain iron accumulation disorders, mitochondrial disorders and genetic dystonia. In recent years, I have set up a Pediatric Neuromodulation Unit for the treatment of children with movement disorders. Our knowledge on metabolic and genetic conditions causing different types of dystonia, combined with our experience with deep brain stimulation, has allowed us to identify and operate best candidates from all over the country, achieving good results on efficacy, safety, and quality of life.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

My goals as a scientist and pediatric neurologist dealing with rare conditions are to provide an accurate diagnosis, avoid isolation to patients and families, and offer the best personalized therapeutic interventions. The best way to achieve these results is to combine clinical and research work, and to collaborate with other professionals in the same objectives at national and international networks.

3. How do you participate in ERN-RND?

Together with Tobias Bäumer and Giovanna Zorzi, we coordinate the Group on Dystonia, Paroxysmal Disorders and Neurodegeneration with Brain Iron Accumulation Disorders.

4. What are your expectations for the network?

To share our knowledge on childhood onset rare neurological diseases, and to collaborate in best clinical practice guidelines, patients’ registries, educational activities and European research projects on this field.

5. How do you think patients and clinicians can work together/why do you think it is important?

Any research model in rare genetic diseases should include the collaboration with patient associations. Children with movement disorders are affected by severe language, motor and neuropsychiatric problems that may cause severe disability. Therefore, families are highly motivated to improve their children’s health care and to support research actions. In our country, we have contributed to the identification of a high number of children with rare neurological conditions through collaborative research projects with Patients Advocacy Associations. Also, we have organized mixed family and professional meetings to empower patients and reduce isolation, and to disseminate clinical and research activities.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Sylvia Boesch, University Hospital Innsbruck, Austria

In this edition of “Meet the members”, we interview Sylvia Boesch, neurologist at the University Hospital Innsbruck, Austria (affiliated partner). She will tell us a bit more about her work in the hospital, within ERN-RND and her expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

Ass. Prof. Dr. Sylvia Boesch, MSc; Senior staff member, Department of Neurology, Anichstrasse 35, 6020 Innsbruck, AUSTRIA;  current president of the Austrian Parkinson’s disease and movement disorder society (ÖPG); co-chair in the EAN panel Neurogenetics; clinical neurologist with interest in translational medicine; member of several rare disease networks (European Friedreich’s ataxia consortium for translational studies/EFACTS, global SCA, global ARCA, SPATAX; Treat HSP); specialized in inherited and sporadic movement disorders especially parkinsonian disorders, dystonias, choreas and other rare movement disorders; longstanding interest in ataxias and spastic paraplegias; “Movement disorders are the dedication in my professional life.”

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

Clinical neurology in movement disorders offers the possibility and the challenge to analyze normal and abnormal movements purely on clinical grounds (Goethe: “Was ist das Schwerste von allem? Was dir das Leichteste dünket: Mit den Augen zu seh’n, was vor den Augen dir lieget“).  To entangle syndromatic and complex rare movement disorders, and to achieve a clinical and etiologic diagnosis or even detect possible treatment options using modern concepts/frameworks such as precision medicine is fascinating to me and challenges my brain even after several decades as a neurologist.

3. How do you participate in ERN-RND?

As a part in a large group of clinical neurologists, specialized nurses, physiotherapists as well as researchers and medical students, I serve as the chair of the national reference center for rare movement disorders in Innsbruck, Austria. This highly dedicated group of people and myself as the chair/coordinator, we are active members of several disease groups in the ERN RND and were partners in several projects (e.g. designed surveys, proposed guideline development, helped in the preparation of leaflets for patients with rare diseases).

The possibility to discuss rare and challenging cases with experts dedicated to movement disorders all over Europe using CPMS offers me and my co-workers an excellent possibility for exchange of knowledge, open discussions and added expertise which may – at the end- help to solve difficult cases with rare disease in individual patients.

4. What are your expectations for the network?

ERN-RND and its highly motivated and experienced members will enable to offer patients with rare disease individualized care through European expertise. The development of standards of care, the distribution of knowledge and expertise as well as international networking will not only harmonize numerous aspects in medical care in rare movement disorders, but will create a “European corporate identity for stakeholders in the field of rare movement disorders”.

5. How do you think patients and clinicians can work together/why do you think it is important?

Integrative work between clinicians and their patients has become increasingly important in the last years. For example, the integration of patient reported outcome measures (PROMs) in all aspects of our clinical work has opened our clinicians’ eyes in many different ways and even changed the view on clinical symptoms that were ignored for long time (e.g. non-motor signs in parkinsonian disorders). Patient empowerment on various levels enables us to work “hand-in-hand” with patients and their families, which – in the end – will result in a better quality of life for doctors and patients.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Fran Borovečki, University Hospital Center Zagreb, Zagreb, Croatia

In this edition of “Meet the members”, we interview Fran Borovečki, neurologist at the University Hospital Center Zagreb, Zagreb, Croatia (affiliated partner). He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

I am a practicing neurologist, subspecialized in neurodegenerative diseases. I am Head of the Division for Neurodegenerative Diseases and Neurogenomics at the Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia. I am also Head of the Center for Translational and Clinical Research at the University of Zagreb School of Medicine, where my group mostly works on genomics of neurological diseases. My field of interest are atypical parkinsonian syndromes and genetics of neurodegenerative diseases. I find the area extremely clinically interesting and novel methods, such as Next Generation Sequencing, help us greatly in deciphering the genetic background of the aforementioned disorders.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I find the combination of clinical and laboratory work extremely enticing. The diagnosis of rare neurological diseases can be extremely challenging, because of the complex clinical presentation. Novel genomic methods can aid us greatly in the search for genetic variants often underlying these diseases and represent an extremely helpful tool in clinical workup of these patients.

3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

We have been involved in the ERN-RND as an affiliated partner since 2019. And since then have been involved in the activities of the network to the best of our abilities. I would especially like to emphasize the usefulness of the CPMS. We have submitted several cases into the system and found it helpful to discuss the patients with eminent experts from all over Europe. We found the system intuitive and believe the exchange of ideas and knowledge will ultimately benefit our patients.

4. What are your expectations for the network?

We are hopeful our participation in the network will help us extend our collaboration with most prominent European institutions in the field of rare neurological diseases. We believe that pan-European cooperation can bring added values to existing services and treatments available to our patients. We also expect that participation in the network will lead to scientific collaborations, thus enabling us to expand our research activities.

5. How do you think patients and clinicians can work together/why do you think it is important?

I strongly believe that patients and their advocacy groups represent and important partner for physicians, since they are an immediate source of information on the most pressing issues that are present in the healthcare system. The collaboration between patients and clinicians can help promote initiatives aimed at providing new services and treatments, especially with the regulatory and governmental bodies.

Is there anything else you would like to say?

We are very grateful to be part of the ERN-RND family, and believe this will add greatly to our capabilities and expertise, thus enabling us to enhance the quality of the medical care we are providing to our patients.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Nicole Wolf, Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands

In this edition of “Meet the members”, we interview Nicole Wolf, pediatric neurologist in the department of child neurology in Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands. She will tell us a bit more about her work in the hospital, within ERN-RND and her expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

Since 2008, I work as a child neurologist in the Amsterdam Leukodystrophy Center (ALC), which is part of the department of child neurology in Emma Children’s Hospital/Amsterdam University Medical Centers. The ALC is dedicated to children and adults with leukodystrophies, and the 5 (child) neurologists see patients with those disorders from all over the world. My training in paediatrics and child neurology took place in Heidelberg and Zuerich. From the very first year at university, it my dream to become a child neurologist because you need to interpret everything on the background on a child’s development, and there is so much to see and to deduce already when observing a child. At the very start of my training, in 1999, I became interested in leukodystrophies and neurometabolic disorders, and began to follow children with these conditions. Within the ALC, my focus is on metachromatic leukodystrophy and hypomyelinating leukodystrophies, from diagnosis to treatment.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

There are only few things in my work I do not like. Following patients for many years and trying to find the best form of tailored treatment is rewarding, and I keep being impressed by the resilience and positive attitude of many patients and families. Working in an interdisciplinary team, covering the whole range from elucidating disease mechanisms to designing a clinical trial is always stimulating. Although good curative treatment options are only available for selected patients, there is clear progress, and to be able to participate in or to set up clinical trials is one of the most fulfilling things I can imagine.

The biggest challenge regarding rare diseases is that those diseases are rare, meaning considerable efforts to find enough patients to answer research questions with confidence. Often, we do not have good systems for example to describe severity of a disease, certainly in young children. On the other side, I very much enjoy the many collaborations needed to make the next step forward, and those collaborations are growing stronger.

3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

Together with colleagues from other European centers, I am involved in coordinating the leukodystrophy disease group, and I am part of the ERN-RND management team. Our team gave several webinars, and I like this form of teaching very much because of its accessibility. We discussed a case very recently, and the opinions of colleagues in other centers are always valuable.

4. What are your expectations for the network?

That this network is the (virtual) place to go for patients and physicians from all over Europe when diagnosed with a leukodystrophy, to find advice and to participate in studies. And that it facilitates collaborations between different centers.

5. How do you think patients and clinicians can work together/why do you think it is important?

Patients and clinicians need to work as a team. Both depend on each other to achieve progress. Patients and families need to know as much as possible about “their” disorder, and doctors need to closely listen to their patients to understand their needs.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Annemieke Buizer, Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands

In this edition of “Meet the members”, we interview Annemieke Buizer, a pediatric rehabilitation physician and professor of pediatric rehabilitation medicine at the Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands. She will tell us a bit more about her work in the hospital, within ERN-RND and her expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest?

I am a pediatric rehabilitation physician and professor of pediatric rehabilitation medicine. Within the Amsterdam University Medical Centers, I work at the department of rehabilitation and at the Emma Children’s Hospital. I am coordinator of the Center of Expertise for Cerebral Palsy and Movement Disorders. I also participate in the Amsterdam Leukodystrophy Center and am chair of the Dutch Academy of Childhood Disability.

I specialize in movement analysis in children and treating mobility problems and movement disorders. My research is translational and clinical, with a focus on understanding mechanisms of motor problems (from brain to muscle) in children with (rare) neurological disorders and on interventions to improve functioning.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I am fortunate that I get to work with children every day. In pediatric rehabilitation we focus on the needs of the child and the family in their daily life. I enjoy exploring what matters most to them, and how we can offer personalized treatment to help children reach their goals. This is multidisciplinary teamwork. What is very special about my work, is that I combine patient care with research. Results of my research can directly be implemented in patient care. In rehabilitation, we focus on improving function, often in diseases or disorders that cannot be cured. In the case that disorders are progressive, we usually do not talk about improving function, but about which interventions are possible to retain function as much and as long as possible, and see to it that the child is as comfortable as possible. A challenge is to offer specifically tailored treatment, or “precision medicine” – the best fitting treatment aimed at the individual characteristics of the child and the specifics of the rare disorder.

3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

I am working group coordinator for the working group Neurorehabilitation, and I am part of the working group Pediatric Issues. I have not yet presented a case via the CPMS, but I look forward to participating in het CPMS in the future.

4. What are your expectations for the network?

Working together with professionals and patients in a multidisciplinary and international context is key in improving care for children with rare neurological disorders. The network is a place where we meet internationally, where information is shared and where we work at sharing and building care path ways. It promotes collaboration.

5. How do you think patients and clinicians can work together/why do you think it is important?

For patients, access to information on their rare disorder is important. For the professional, learning from the experience of patients and listening to their needs is vital to be able to offer the best advice. Patient involvement is fundamental in setting priorities for our network, in formulating common goals, in patients/parents and clinicians working together as a team.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Juan Darío Ortigoza-Escobar, Hospital Sant Joan de Déu, Barcelona, Spain

In this edition of “Meet the members”, we interview Juan Darío Ortigoza-Escobar, a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest?

I am a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. I specialize in movement disorders as well as the treatments for these disorders (deep brain stimulation, baclofen intrathecal pump, etc.). In addition, I am very interested in mitochondrial disorders and genetic disorders. In paediatric movement disorders, understanding the pathophysiological basis of the diseases as well as the clinical symptoms of each patient is critical. This will allow us to provide patients with the most individualized care possible.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

What I enjoy most about my job is the opportunity to help children. Each patient with a rare condition is unique: from the moment I meet them until I diagnose them, including the fortunate circumstances where I am able to provide any kind of treatment for their condition. Every small improvement in these patients can be a huge win.

3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

I am coordinator of the Chorea and Huntington Disease Group, as well as the Working Group for the Paediatric Issues Group. I am also a member of the Dystonia, NBIA, and Paroxysmal Disorders Group. During this time, I have developed the “Diagnosis algorithm for childhood-onset chorea” within the Chorea and Huntington disease group and I have presented it in a webinar.

I am now leading the creation of a “Diagnosis and treatment of NKX2-1-related disorder: ERN-RND clinical practice guideline” along with four other ERNs: Endo-ERN, ERN-Lung, ERN-GENTURIS, and EURACAN. This will be a very important initiative, since it is one of the first clinical practice guidelines developed by the ERN-RND. Additionally, in the paediatric group, I am studying the use of movement disorder rating scales among the ERN-RND neuropaediatricians.

In CPMS, I have contributed on both sides, first as an expert and also by presenting a clinical case. I have already used the previous CPMS, and the new one is more “user-friendly”. Preparing a clinical case for the current CPMS takes about the same amount of time as for other types of meetings. The participation of the assistants during the presentation is usually excellent since they ask many pertinent questions regarding the clinical case.

4. What are your expectations for the network?

It is extremely useful for everyone to be joined together in this ERN-RND with a common interest in rare neurological diseases. I hope the ERN-RND will continue to grow like it has in the past, adding more members from other countries, that collaboration evolves and that additional projects will be produced. In the ERN-RND, I have met many colleagues and we have started many joint projects. Through the webinars it provides, the ERN-RND also plays an important role in continuing to educate physicians about the diagnosis and treatment of rare neurological diseases.

5. How do you think patients and clinicians can work together/why do you think it is important?

The ERN-RND is a great example of collaboration between patients and medical organizations. The patient advocates in the ERN-RND are highly active, attend a lot of meetings, and always offer a fascinating point of view from the patient’s perspective. I believe that ERN-RND will benefit patients in the future through projects such as clinical practice guidelines and discussions of complex cases in the CPMS.

6. Is there anything you would like to add?

Finally, I would want to acknowledge and thank the coordinators and the coordination office of the ERN-RND for all of their efforts and hard work to ensure that projects continue to move as smoothly as they have.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Astri Arnesen, President of the European Huntington Association

In this edition of “Meet the members”, we interview Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association. She will tell us more about her work within ERN-RND and her expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest?

I come from a family affected by Huntington’s Disease (HD) and grew up while my mother was progressively incapacitated by all the symptoms. It was extra hard because we didn’t know what she suffered from. When I was 19 years old, she was diagnosed and I learned about my own risk of having inherited the same disease. For me it was of crucial importance to get in touch with the patient community and I found great strength and comfort in meeting people sharing the same experience as myself. Since then, I have been engaged in the patient organisations, first in Norway and since 2010 in the European Huntington Association.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I feel privileged to be able to work full time as President of the European Huntington Association. I have been so lucky, as I learned in 2010 that I was free of the HD mutation. My dear brother and sister were not as lucky. In my current job I feel I can make use of all my previous professional expertise as well as my life experience with HD. As there are large unmet needs for HD patients and families, I feel that even small improvements can make a big difference for people. It is so rewarding to hear stories about how people feel empowered by being part of the community. This goes both for family members and professional carers and clinicians. When affected by, or working with, a rare disease, you often feel isolated and alone. That is why organizing networks and meeting places is so important. Rare Diseases are usually complex and because of the rarity nobody can know everything. We need to learn from each other and exchange experiences and not the least – develop new knowledge together.

3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

I was invited to be involved as a patient representative (ePAG) in 2017. In ERN-RND there are 8 patient representatives. We meet regularly and have a very good connection to the network coordinators in Tübingen. I am active in sharing information about the ERN-RND in my disease community to raise awareness and understanding of the existence and importance of the network.  I encourage the national patient associations and the clinicians to engage as much as possible with their respective network members. EHA is coordinating the HD associations throughout Europe in advocacy for the ERN-RND in their respective countries.

4. What are your expectations for the network?

Honestly, I have very high expectations and aspirations for the network. The ERNs are the main infrastructure that the EU has established to meet the needs of Rare Disease patients. Only through these networks will it be possible to offer expertise to RD patients all over Europe and reduce inequalities.

5. How do you think patients and clinicians can work together/why do you think it is important?

A strong alliance and collaboration between patients and clinicians is the most powerful way to achieve better services to patients. Patients and clinicians complement each other’s expertise and it is only in collaboration we can develop services tailored to meet the needs of rare disease patients. Within the network I think we still are looking for ways to how we can optimise the collaboration. We all struggle with lack of capacity in terms of time. More time and resources need to be allocated to the network members to enable us as to work more closely together. Collaboration requires time and time costs money! It is easy and difficult at the same time.

6. What would you wish in terms of educational activities or materials to be offered from ERN-RND?

I would love to see the educational resources being offered not only to medical professions, but also include multidisciplinary approaches and serve as a resource for specialization in ERN-RND for physiotherapists, occupational therapists, psychologist, nurses, speech therapists etc.

I also hope for a lot of exchange visits between personnel from the ERN-RND member clinics. Academic education is necessary and good, but we learn deeper and additional skills through seeing others perform and being able to test academic knowledge in practice.

7. Is there anything else you would like to add?

I am grateful for how far the ERNs has come since the start in 2017, but we have a long way to go before we have achieved the goal – that all rare disease patients have access to the expertise needed to provide best possible treatment. I wish that the patient groups and the clinicians could join forces and advocate for more resources to the network collaboration and activities. This needs to be done at many different levels, from the clinic department to hospital management to national health care authorities to the EU level of decisions and budgeting.

Are you an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Bart van de Warrenburg, Radboud university medical center, Nijmegen, the Netherlands

In this edition of “Meet the members”, we interview Bart van de Warrenburg, neurologist at the Radboud university medical center. He will tell us more about his work in the hospital, within ERN-RND and his expectations for the network.

1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest?

I am working as a neurologist at the Radboud university medical center, Nijmegen, the Netherlands. I am leading the expert centre for rare and genetic movement disorders, in which we focus on ataxias, HSP, dystonia and rare parkinsonism. This domain of medical expertise crosslinks clinical skills and neurogenetics, which I like very much. The official recognition of our centre by the Dutch Minister of Health was recently renewed. As a principal investigator, I also lead a research group that does translational research into rare and genetic movement disorders.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

As an academic doctor you combine care, research, teaching, and management, all within a dynamic and ambitious environment, which suits me quite well. It is great to be an expert on a small but relevant group of diseases, which allows me to really be of added value to patients. I also like the integration of care and research: picking up new ideas, questions, and priorities in the consultation room and also translate research findings back to the clinic. There are multiple challenges in working on rare diseases, including insufficient reimbursement for the expert care provided, difficulties to arrange a care network close to the patient’s home, limited funding resources for research, etc. Still, I sense a sort of momentum for rare disease care and research, and I think the ERN is a tangible embodiment of that. Therapies are on the horizon and this is a great boost for this area in medicine.

3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

I have been involved with ERN-RND from the start and witnessed its ‘maturation’, which is great. I am part of the working group on ataxia/HSP, have contributed to teaching in one of previous winter schools, featured in two webinars, and reside in a CPMS panel. With regard to CPMS, it has been nice to jointly try to solve cases within the system and to be part of a recent online CPMS case discussion. The number of cases discussed could be higher, and I indeed think it is good to try and push this.

4. What are your expectations for the network?

As said, ERN-RND is clearly maturing and is now quite professionally supported. It is becoming clearer what our main activities and goals are. Guidelines and case discussions are important instruments to try and help colleagues within the EU to manage their patients with rare neurological disorders. In our hospital, I also see that the ERN’s are increasing in importance. There is a clear opportunity for ERN-RND to take the lead in improving and harmonizing care for rare neurological disorder patients in the EU. However, it will be important that ERN-activities are formally recognized by national authorities and hospitals. For most of the ERN-RND members, these activities are currently extra and often done in spare time.

I also see that ERN-RND, with other ERN’s, can serve research purposes by providing an excellent infrastructure and network. I am part of the Solve-RD project, which is built on this.

5. How do you think patients and clinicians can work together/why do you think it is important?

I have been working with patients for many years. I am medical advisor for various patient societies, our expert centre has a patient council, and patients are increasingly involved in the early phases of our research. I have noticed that these interactions are of benefit to our care organisation and have contributed clearly to recent grant successes. It is therefore important that ERN-RND cherishes and further nourishes such interactions.

Are you an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Johannes Levin, Department of Neurology, Ludwig-Maximilians-University Munich, Germany

In this edition of “Meet the members”, we interview Johannes Levin, Professor for clinical neurodegeneration at the Department of Neurology, Ludwig-Maximilians-University Munich,  Deputy leader for clinical research at the German Center for Neurodegenerative Diseases (DZNE), site Munich and Chief Medical Officer at MODAG GmbH. He speaks about the biggest challenge specially in regards to working on rare diseases and his expectations for the network.

1. What is your profession and your medical expertise or specific field of interest/why?

I work as professor for Clinical Neurodegeneration at the Department of Neurology, Ludwig-Maximilians-University Munich and I am deputy leader for clinical research at the German Center for Neurodegenerative Diseases (DZNE), site Munich.

I have been working in the field of neurodegeneration for 20 years focusing clinically on movement disorders and genetic forms of dementia.

My principal research focus is the molecular pathogenesis of neurodegenerative diseases with emphasis on protein aggregation, biomarker development for neurodegenerative diseases and therapy development targeting protein aggregation.

I have a proven track record for coordinating academic research studies and I am principal investigator of the largest interventional trial in Multiple System Atrophy in Germany involving 92 patients at 12 centers (PROMESA trial) with long standing experience in conducting industry sponsored trials.

Moreover I am principal investigator in several national studies and in international cohort studies such as the Dominantly Inherited Alzheimer’s Network (DIAN) and the Genetic Fronto-temporal dementia Initiative (GENFI).​

Based on this background I joined MODAG GmbH as part-time CMO where the academic work on the oligomer modulator anle138b is continued in an industry setting, where the compound is currently at early stages of clinical development.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I really like the need for collaboration in working on rare diseases. The highest burden I see is the administrative hurdles for collaboration and especially for interventional trials.

 3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

I am member of the FTD disease group and one of the coordinators of the atypical Parkinson disease group.

 4. What are your expectations for the network?

Foster collaboration between centers and countries to improve patient care. For example, we currently work on guidelines to harmonize treatment of patients with atypical parksinonism.

 5. How do you think patients and clinicians can work together/why do you think it is important?

In the atypical Parkinson disease spectrum there is a good connection between patients and scientists really improving science by direct contributions and by helping to identify relevant research questions.

 6. What would you wish in terms of educational activities or materials to be offered from ERN-RND, targeting clinicians as yourself?

Support in improving and harmonizing diagnosis and care for patients with rare neurodegenerative diseases, for example via providing training and materials such as case discussions or clean, short tables, flowcharts and SOPs.

Is there anything else you would like to say?

I hope ERN-RND continues to grow.

Are you an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Nataliya Grigorova, Bulgarian Huntington Association, ERN-RND ePAGs group coordinator

In this edition of “Meet the members”, we interview Nataliya Grigorova, Bulgarian Huntington Association, ERN-RND ePAGs group coordinator. She speaks about the idea that the most important step for patients and their care is to improve their current condition and to increase their quality of life. She also speaks about her wish to foster equal therapy and care for all patients in Europe -especially for patients from Eastern Europe.

1. What is your profession and your medical expertise or specific field of interest/why?

I’m clinical psychologist and a patient advocate and I represent families affected by Huntington’s disease from Bulgaria. I’m one of the founders of the Bulgarian Huntington Association and since 2014 I’ve been actively involved in the activities related to the families care and empowerment. Since HD is an incurable disease, our founding mission is to provide social support and rehabilitation for families, as well as opportunities to exercise they rights and those related to their health and social well-being. I stand firmly behind the idea that the most important step for patients and their care is to improve their current condition and to increase their quality of life, despite the progress of the disease.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I love meeting people and being actively involved in patient advocacy and activities that are visibly changing people’s lives. Being part of life changing activities in the civil society gives me meaning and hope for the future. Of course, there are a lot of challenges, especially fighting against stigma, prejudices and rigid ways of thinking. One of the biggest challenges is the demolition of the wall that society erects in front of people with severe disabilities. This stigma, when it is overcome and replaced with empathy, people with rare diseases can reach their potential to live fully within their own means. Coming from Eastern Europe, I also see how differently patients and patient organizations are supported through ERN, and it is my priority to work towards the main goal of the networks, which is to unify care for people with rare diseases across Europe.

 3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

My involvement is about actively partnering with other patient advocates through the Patient Advocate Group and at the same time representing the voice of the patients to the entire network by participating in the network’s various working groups and projects. Although I have been involved since 2020, I already coordinate our group, which currently consists of 6 patient advocates from all over Europe, and soon we hope to have more members join, especially in areas where we lack patient advocates for some diseases. For me, this is an extremely positive experience of knowledge exchange, but also an opportunity to work and transfer what I have learned at the local level. In Bulgaria, there is already a Network of patient advocates in the ERN, which will inevitably lead to the deployment of advocacy for rare diseases in general, something that my country badly needs. It is important for me to also be able to represent the needs of patients from Eastern Europe, which unfortunately I have to admit are many more and much more unmet, compared to those from Western Europe. This is one challenge that all networks and patient advocates should work towards; equal therapy and care for all patients in Europe.

 4. What are your expectations for the network?

Big ones. I expect the work of these networks to lead to a broad and patient-beneficial collaboration, putting all stakeholders on an equal footing and leading to a complete standardization of therapy and patient care across Europe. Every patient with a rare disease in Europe should have access to the same medication, to the same specialized social support, at the same time.

 5. How do you think patients and clinicians can work together/why do you think it is important?

Physicians and patients can work very successfully together, pursuing one goal – good patient care. This is done by standardizing the language used and prioritizing common goals. This is of utmost importance, both for doctors and patients. Take a clinical trial as an example. Can it be planned and well executed without taking into account all the peculiarities of the disease being studied and the challenges faced by the patient? Let’s say, for example, that you are a doctor who is perfect at your job and you have thought out to the last detail a clinical trial design with very promising results. Yes, but it turns out that during the course of the study, half of your patients no longer show up or give up in the middle, because, let’s say, you didn’t take into account that they get tired very quickly or have terrible headaches and can’t manage to dedicate the needed amount of time for the study. Then your work goes to waste and also the wonderful results you wanted to achieve for your patients. Being able to hear the needs of patients is of great importance to the clinician, conveying these needs adequately is the main job of the patient advocate. That is why the European patient advocates also participate in the networks, who convey the experience of patients and patient organizations.

 6. What would you wish in terms of educational activities or materials to be offered from ERN-RND, targeting clinicians as yourself?

I would like to see more trainings and activities  focused on non-medical care for rare neurological diseases, such as webinars with physiotherapists and psychologists and materials highlighting mental health issues for people with rare diagnoses and their careers. Nonmedical care is still largely neglected in this area, and we know that it is sometimes the first line of care for patients for whom there is no medical therapy, which is actually 95 percent of the time for people with rare diagnoses.

Is there anything else you would like to say?

I would like to share that it means a lot to me and I’m grateful for the opportunity to participate in the network because I can contribute and learn from it. I think that its development is going to gain more traction in the future and I am sure that the efforts of everyone involved in the networks will start to yield results very soon. I appreciate everyone’s efforts to work together for patients with rare neurological diseases!

Are you an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Robert Rusina, Thomayer Teaching Hospital and Charles University in Prague, Czech Republic

In this edition of “Meet the members”, we interview Robert Rusina. He is neurologist and the head of the Center of Neurodegenerative Disorders in the Department of Neurology at Thomayer Teaching Hospital and Third Faculty of Medicine, Charles University in Prague, Czech Republic. In this interview, he provides an insight into his field of research, close clinical-neuropathological correlations among the different subtypes of dementia and his work within ERN-RND and his expactions for the network.

Please briefly introduce yourself and your hospital.

My name is Robert Rusina; I am a neurologist and the head of the Center of Neurodegenerative Disorders in the Department of Neurology at Thomayer Teaching Hospital and Third Faculty of Medicine, Charles University in Prague, Czech Republic.

Question 1: What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

My professional focus is cognitive and behavioral neurology, with an emphasis mainly on neurodegenerative dementias, in particular, primary progressive aphasias (PPA), frontotemporal dementia (FTD), and human prion disorders.

My principal research interests are the close clinical-neuropathological correlations among the different subtypes of dementia. Currently, I am the national coordinator of a Czech prospective multicenter research study focusing on primary progressive aphasia.

Question 2: What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I am fascinated by the clinical heterogeneity of rare neurodegenerative dementias in different patients having the same diagnosis. I am fortunate to have a close, long-standing collaboration with Professor Radoslav Matěj from our hospital’s Institute of Pathology and Molecular Medicine. We have published many correlation studies analyzing various clinical and neuroimaging patterns regarding underlying neuropathological findings, and together we founded the Czech Brain Bank, which is located at our hospital.

The biggest challenge facing me now is the analysis of language patterns and their underlying morphological and structural correlates, which can be unraveled and better understood when language structures and networks are progressively impaired by disease. Cooperating PPA patients are an extraordinary source of information, and close interdisciplinary collaborations among speech therapists, neuropsychologists, as well as linguists, are providing exciting new insights into the deep secrets of human language, communication, and personality.

Question 3: How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

I am one of the coordinators of the FTD disease group. Using CPMS, we have discussed several cases with complex and unusual clinical presentations, and I find these exchanges extremely useful and inspiring – for both the presenters and the consulting experts; of course, the patients are the ones who profit the most from these frameworks.

Question 4: What are your expectations for the network?

In my view, clinical neurology is rapidly moving beyond interactions between patients and physicians supported by neuroimaging and biomarkers. Networking, shared experience, and personal communication between dedicated experts are now the basis for making better diagnostic conclusions and therapeutic options, especially in rare disorders. Ultimately, it also improves our patient-oriented care and the quality of our research facilities.

Moreover, the direct participation of patients and/or caregiver organizations within the ERN-RND disease groups are an uncontestable “bonus.” I also think there is huge potential for ERN-RND-endorsed webinars to promote better understanding and greater expertise in diagnosing and treating rare disorders.

Question 5:  How do you think patients and clinicians can work together/why do you think it is important?

Besides the close partnerships between clinicians, patients, and caregivers being essential for good clinical practice in dementia settings, networking supported by ERN-RND may also promote sharing experiences between families with similar problems throughout Europe.

Is there anything else you would like to say?

I believe in the goals of the ERN-RND and strongly support its continued growth and success!

Are you an ERN-RND full member or affiliated partner and would like to participate? Please contact us.