Clinician Scientists for Rare
As eight out of ten cases of rare diseases (RDs) affect children and adolescents, research into RDs is primarily a paediatric topic. However, there has long been a lack of research funding and career prospects for young doctors who wish to combine scientific research with patient care, particularly in paediatrics and adolescent medicine. Our Clinician Scientist for Rare programme aims to address this issue.
Targeted promotion of young talent in pediatric research
A lack of young talent in paediatric research is evident at all stages of the training and career path of (prospective) paediatricians in university medicine today. This is a dramatic development for those living with rare diseases. Paediatrics needs a real ‘reforestation programme’ for young scientists to ensure that someone will still be researching rare diseases in the future. This is the only way to guarantee that children and young people benefit from medical progress.
This is why promoting scientific talent in paediatrics is one of the central themes of Alliance4Rare, a research initiative for children with rare diseases launched by the Eva Luise and Horst Köhler Foundation in 2022.
Alliance4Rare – shaping the future together
Alliance4Rare sees itself as a link between the rapidly developing possibilities of modern medicine and the immense need for research into rare diseases. To this end, this civil society alliance brings together the expertise of leading university children’s hospitals and their faculties, and the philanthropic commitment of its supporting partners. Through their collaborative efforts, Alliance4Rare offers hope for a healthier future to children and young people living with rare diseases. Join the Alliance4Rare as a partner!
The Clinician Scientist for Rare Program
– a structured training and career programme for paediatricians and human geneticists with strong research skills in university medicine.
The research initiative focuses on funding the further training and networking of paediatricians and human geneticists who wish to specialise in rare diseases in the long term, both clinically and scientifically. To prepare these researchers for their challenging roles, Alliance4Rare relies on a structured training and career path based on the recommendations of the German Research Foundation (Deutsche Forschungsgemeinschaft (DFG)) orientiert.
The Clinician Scientist for Rare programme gives participating physicians the freedom to conduct scientific research at a high level. Depending on their career stage, fellows are released from 25–50% of their clinical duties. During these protected research periods, they advance their scientific projects on serious rare diseases and undergo intensive training in specific topics and technologies.
While completing the local clinician scientist programmes of their medical faculties, participants also receive the specific training and networking opportunities of the CS4Rare programme.
- Participation in the Alliance4Rare Winter School, held biennially in Berlin
- Quarterly participation in online lectures and Jour Fixe meetings
- Participation in the annual Rare Disease Symposium of the Eva Luise and Horst Köhler Foundation
- Work shadowing at a collaborating research institution
- Mentoring by experienced experts
Thanks to the commitment of the Alliance4Rare funding partners, young talent in the field of rare disease research is, for the first time, being offered structured further training and reliable career prospects that can compete with those in other research-intensive specialist areas.
The concept and implementation of the programme
Alliance4Rare gGmbH, a wholly owned subsidiary of the Eva Luise and Horst Köhler Foundation for People with Rare Diseases, sponsors the Clinician Scientist for Rare programme and acts as a link to local partners from university medicine. The gGmbH designs, coordinates and supports the entire training and networking programme, and acts as a point of contact for all participants. In cooperation with the university children’s hospitals, funding bodies and the Alliance4Rare Scientific Advisory Board, Alliance4Rare gGmbH coordinates and supports the tendering and review process, as well as handling the entire third-party funding management.
Level 1: Junior Clinician Scientists for Rare (JCS4RARE)
Setting the course in good time: The JCS4RARE programme offers two years of structured training to young physicians who are actively engaged in research and have a serious interest in the field of rare diseases, either during their doctoral studies or within the first three years of their specialist training.
Promising talents are encouraged at an early stage in their career, introduced to other researchers and provided with targeted further training. The programme aims to familiarise young scientists with relevant structures, topics and methods early on, and to promote their long-term integration within the SE community and with other medical and scientific fields.
Costs
To support a junior clinician scientist, Alliance4Rare funding partners finance 25% of the regular staff position, freeing up time for scientific tasks and further training. The actual full costs of this position currently amount to approximately € 22,500 per fellowship per year. Funding partners should ideally also pay a lump sum of € 2,500 per year to cover the costs of further training and networking opportunities (e.g. travel and accommodation costs for job shadowing and winter schools). As junior clinician scientists are funded for two years, the total cost per fellowship is therefore € 45,000–50,000.
Our Junior Clinician Scientists for Rare (JCS4RARE) – Level 1
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Dr. med. Nina-Maria Wilpert, JCS4RARE
Charité – Universitätsmedizin Berlin
Funding period: March 2024 to February 2026, funded by the Berliner Sparkassenstiftung Medizin and the Eva Luise and Horst Köhler FoundationNina-Maria Wilpert is an assistant doctor at the Department of Paediatrics, specialising in neurology, and treats patients with Allan-Herndon-Dudley syndrome (AHDS), also known as MCT8 deficiency, at the specialist movement disorder clinic for children. In January 2024, she was accepted onto the Junior Clinician Scientist for Rare Programme (JCS4Rare), which is funded jointly by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung Medizin. As part of the program, she is investigating the role of dopamine in AHDS. AHDS is an ultra-rare disease caused by a defective thyroid hormone transporter (mutated MCT8 transporter). Children with AHDS suffer from severe developmental and movement disorders, and overall morbidity and mortality are high.
In the first year of funding, Dr Wilpert established a cohort of 11 patients. These patients responded well to levodopa/carbidopa treatment, achieving improvements in patient-oriented therapeutic goals. For example, they were able to perform significantly more precise actions. Dr Wilpert is now investigating how thyroid hormone action is related to dopamine metabolism in cell systems (dopaminergic cells from patient stem cells) and in tissue (perinatal basal ganglia). As part of her paediatric training, she completed a rotation at the Social Paediatric Centre (SPC) and the pneumology and immunology wards, and she is attending the movement disorder consultation at Boston Children’s Hospital in August 2025. In April 2024, she organised an information day about AHDS at the Charité to educate patient families and empower representatives.
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Dr. med. Ruth Maria Urbantat, JCS4RARE
Charité – Universitätsmedizin Berlin
Funding period: March 2024 to February 2026, funded by the Berliner Sparkassenstiftung Medizin and the Eva Luise and Horst Köhler FoundationRuth Maria Urbantat completed her doctorate at Charité – Universitätsmedizin in 2022. She is now an assistant physician in the Department of Paediatrics, specialising in pneumology, immunology, and intensive care medicine. In January 2024, she was accepted onto the Junior Clinician Scientist for Rare Diseases Programme (JCS4Rare), which is funded jointly by the Eva Luise and Horst Köhler Foundation and the Berliner Sparkassenstiftung Medizin. As part of the programme, Dr Urbantat is researching primary ciliary dyskinesia (PCD). PCD is a rare genetic multi-system disorder in which the cilia in the airways do not function properly, often leading to severe recurrent infections and progressive deterioration of lung function, even in young adulthood. The upper respiratory tract is also affected, and hearing and infertility problems can develop.
Dr. Urbantat plans to use a biobank of airway epithelial cell cultures, which she has established, to characterise the underlying mutations. Using innovative biochemical and functional methods, she intends to investigate gender-specific differences in cilia function and develop novel therapeutic strategies for primary ciliary dyskinesia (PCD). Patients of all ages with PCD are cared for by a multidisciplinary team affiliated with the Berlin Center for Rare Diseases (BCSE) at the Charité during special consultation hours on an outpatient and inpatient basis.
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Dr. med. Klara Brüning, JCS4RARE
Charité – Universitätsmedizin Berlin
Funding period: March 2025 to February 2027
Funded by the Geschwister Mangelsdorff FoundationKlara Brüning participated in the ‘Experimental Medicine’ programme at the University of Münster during her studies, receiving her doctorate in molecular nephrology in 2021. After completing her medical studies, she began specialist training in the Department of Paediatrics, focusing on gastroenterology, nephrology, and metabolic medicine, at Charité – Universitätsmedizin Berlin in 2023. Her clinical and scientific focus is on paediatric nephrology, a specialty in which almost all patients are affected by rare diseases. Around 50–60% of all chronic kidney diseases in children are caused by mutations in just one gene, and approximately 600 genes are currently known to cause the condition. As there are currently no curative treatment options, the only options for young patients are dialysis and transplantation.
In March 2025, Dr. Brüning was accepted onto the Junior Clinician Scientist for Rare Diseases Programme through a Geschwister Mangelsdorff Foundation scholarship. During her two-year research period, she will focus on characterising renal delivery. She will investigate how different viral vectors can reach certain renal cell types. The aim is to determine the most suitable methods for targeted therapy of rare monogenetic kidney diseases.
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Pauline Baumbach, JCS4RARE
University Hospital Carl Gustav Carus, Dresden
Funding period: January 2025 to December 2027
Funded by Friede Springer gGmbHPauline Baumbach first studied physics at the Technical University of Dresden, completing a Bachelor’s degree, before studying human medicine. In January 2025, she began her residency at the Clinic and Polyclinic for Paediatrics and Adolescent Medicine at University Hospital Dresden, where she is also completing her doctorate. Her focus is on monogenetic autoimmune diseases, particularly systemic lupus erythematosus, both clinically and scientifically. This serious inflammatory rheumatic disease can affect any organ. Those affected suffer from a variety of symptoms, including joint pain, skin abnormalities, neurological problems, and kidney disease requiring dialysis.
Pauline Baumbach joined the programme through a project grant from Friede Springer gGmbH, enabling her to dedicate 50% of her working hours to research. The basic research project, ‘Functional dissection of disease pathways in monogenetic immune dysregulation’, aims to clarify the pathomechanisms and immune signalling pathways underlying lupus, thereby uncovering new therapeutic approaches. To this end, Ms Baumbach will collaborate with a biotechnologist to create model cell lines containing known patient mutations, which will then be compared with patient cells using gene editing.
Level 2: Clinician Scientist for Rare (CS4RARE)
The second stage of our training and career path involves intensive research and additional training. It is intended for doctors who have completed at least three years of specialist training in paediatrics or paediatric human genetics, and who have demonstrated excellent scientific achievement and a keen interest in rare diseases during this time.
The extended leave of absence from clinical activities (50%) enables CS4Rare to dedicate more time to their own research projects. They should use this time to work on questions that cannot be addressed using animal models, for example. Over the course of three years, CS4Rare will expand their network, deepen their scientific expertise, and acquire the necessary qualifications to be ready for habilitation by the end of the funding period.
Costs
Funding for a Clinician Scientist for Rare Diseases (CS4Rare) comprises 50% of a regular staff position, ensuring that this mandatory research time is available for research and further training. The actual full costs of this proportion of the post per fellowship currently amount to approximately € 50,000–60,000 per year. Ideally, funding partners would also contribute an additional lump sum of € 2,500 to cover the costs of further training and networking opportunities (e.g. travel and accommodation for job shadowing and winter schools). As clinician scientists are generally funded for three years, the costs for the Alliance4Rare funding partners therefore total around € 155,000–165,000 per fellowship.
Our Clinician Scientists for Rare (CS4RARE) – Level 2
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Dr. med. Felix Boschann, CS4RARE
Charité – University Medicine Berlin
Funding period: July 2022 to June 2025
Funded by Friede Springer gGmbHFelix Boschann studied Human Medicine at Charité – Universitätsmedizin Berlin, completing his specialist training in Human Genetics at the Institute of Medical Genetics and Human Genetics by the end of 2024. As part of the Clinician Scientist for Rare Diseases programme, Dr Boschann is researching ‘Genome sequencing in hereditary connective tissue diseases’. The study focuses particularly on syndromic and familial aortic diseases. He is currently compiling a cohort of cases that have not yet received a molecular diagnosis despite developing an enlargement or dissection of the aorta at a comparatively early stage.
These patients are offered genome and transcriptome analysis. The aim is to identify new mutations in known genes that have not yet been detected using conventional diagnostic methods, and to discover new disease genes. Ideally, this will bring an end to the diagnostic odyssey for many patients. At the same time, molecular results have been shown to significantly impact individual patient management and family risk assessment. In addition to these translational benefits, we should also find basic scientific findings on the molecular mechanisms of aortic aneurysm development.
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Dr. Leonie Schumm, CS4RARE
Charité – University Medicine Berlin
Funding period: July 2023 to June 2026
Funded by Friede Springer gGmbHLeonie Schumm studied Human Medicine at Humboldt University of Berlin and completed her doctorate at the Department of Neurosurgery at Charité – University Medicine Berlin. Having worked at the University Hospital Carl Gustav Carus Dresden and the University Children’s Hospital Zurich, she has continued her training as a paediatric and adolescent medicine specialist at the Department of Paediatrics, focusing on gastroenterology, nephrology, and metabolic medicine, since July 2023. As a Clinician Scientist funded by Friede Springer gGmbH, she is researching an immunomodulatory therapeutic approach for biliary atresia, a rare liver disease affecting around one in 12,000 newborns in Germany.
Children with biliary atresia are unable to drain bile from the liver because their bile ducts have atrophied. Without palliative correction of the obstruction or a liver transplant, the disease leads to cholestasis, fibrosis and death within 24 months. Studies have shown that chronic inflammatory processes play a decisive role in the development of biliary atresia. In a mouse model, repurposing an antibody used in clinical practice against autoimmune cells cured the disease. Therefore, hopes for immunomodulation in human biliary atresia are high.
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Dr. med. Steffen Köhne, CS4RARE
University Medical Centre, Göttingen
Funding period: September 2023 to December 2026
Funded by Friede Springer gGmbHSteffen Köhne studied Human Medicine at Georg August University of Göttingen and completed his doctorate in the Department of Cardiology and Pneumology at the University Medical Centre Göttingen. Having completed his specialist training at the Clinic for Paediatric and Adolescent Medicine in December 2024, he is now undergoing further training as a paediatric gastroenterologist. His scientific work focuses on NEDAMSS, a very rare form of paediatric dementia. The phenotypic spectrum of patients ranges from developmental delays to the most severe neurodegenerative courses, in which affected children and adolescents ultimately lose all the skills they have ever learned.
As part of a project funded by Friede Springer gGmbH, Dr Köhne is combining his clinical research into the natural course of the disease with his project partners’ innovative basic scientific methods at the Max Delbrück Center in Berlin, taking a cross-site, consistently translational approach. The aim is to identify the underlying molecular and biochemical processes by developing organoids from patient cells, which will ultimately be used for comprehensive drug screening to identify the first drug candidates for the treatment of NEDAMSS.
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Dr. rer. nat. Dr. med. Jan Niehues, CS4RARE
University Hospital Carl Gustav Carus, Dresden
Funding period: March 2025 to December 2027
Funded by Friede Springer gGmbHJan Niehues studied Physics at the University of Oxford, subsequently completing his doctorate in Theoretical Particle Physics at the University of Zurich. For his PhD, he worked on precision calculations for scattering processes at particle accelerators. Following this, he undertook postdoctoral research at the Institute for Particle Physics Phenomenology (IPPP) at Durham University in the UK. He then studied human medicine at RWTH Aachen University, researching applications of artificial intelligence in medicine for his medical doctoral thesis.
He is currently completing specialist training in paediatrics and adolescent medicine at the Carl Gustav Carus University Hospital in Dresden, where he works in the Neonatal Unit. As a clinician scientist, he is working on a Friede Springer gGmbH-funded project with Dr med. Janka Hindricks (Charité – Universitätsmedizin Berlin), which aims to establish the first genetic newborn screening programme in Germany. This screening enables the detection of a number of diseases for which treatment options already exist (or will exist in the near future) in the first days of life. In the best-case scenario, screening provides a significant opportunity for affected children: therapeutic intervention at the earliest possible stage can reduce or, ideally, prevent consequential damage altogether.
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Dr. med. Janka Hindricks, CS4RARE
Charité – University Medicine Berlin
Funding period: June 2025 to December 2027
Funded by Friede Springer gGmbHJanka Hindricks studied Human Medicine at the University of Leipzig, conducting research on adipocyte signalling pathways at the Department of Endocrinology and obtaining her doctorate. She then undertook specialist training in Brandenburg and Berlin, gaining in-depth experience, particularly in neonatology.
From June 2025, Dr Hindricks will work at the Department of Paediatric Endocrinology and Diabetology at Charité – University Medicine Berlin, where she will complete her specialist training before pursuing additional training in paediatric endocrinology and diabetology. As part of a Friede Springer gGmbH-funded project, she will conduct scientific research with Dr Jan Niehues (Carl Gustav Carus University Hospital, Dresden) on a pilot project to establish Germany’s first genetic newborn screening programme. This screening enables the detection of a number of diseases for which treatment options already exist (or will exist in the near future) in the first days of life.
In the best-case scenario, screening provides a significant opportunity for affected children: therapeutic intervention at the earliest possible stage can reduce or, ideally, prevent consequential damage altogether.
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Dr. med. Lara Lechner, CS4RARE
Charité – University Medicine Berlin
Funding period: July 2025 to December 2027
Funded by Friede Springer gGmbHLara Lechner is a paediatric trainee and clinician scientist at Charité. As part of her MD/PhD, she investigated the influence of epigenetics on central hunger and satiety regulation using a stem cell model. She then furthered her training in basic science as a postdoctoral fellow at Charité and Columbia University, focusing on hypothalamic stem cell models, single-cell analyses, and functional molecular genetic methodology. She is currently focusing her research on rare, monogenic forms of childhood obesity, which alter hypothalamic satiety regulation, for example.
Dr Lechner uses genetic data (e.g. exome sequencing) from affected children to identify variants that were previously unknown. Using innovative stem cell models, she investigates how these genetic changes affect the development and function of hypothalamic nerve cells. For example, she looks at how the ADCY3 mutation disrupts primary cilia, and which molecular signalling pathways are affected. New therapies, such as the MC4R agonist setmelanotide, have demonstrated the potential for the specific treatment of such rare genetic causes. Her research aims to improve our understanding of rare forms of obesity, define new therapeutic targets, and pave the way for personalised treatment strategies. Dr Lechner combines clinical experience with experimental research to open up new perspectives for children with these debilitating diseases.
As Anchor Scientist of the Alliance4Rare, from July 2025 she will also ensure the networking of young scientists specialising in rare diseases at all paediatric clinics of the Berlin Charité.
Level 3: Advanced Clinician Scientist for Rare (ACS4RARE)
Passing on and shaping knowledge: The third career stage is aimed at paediatric and human genetics specialists (possibly with specialist or additional training), as well as senior physicians who have already embarked on an academic career and have proven expertise in a rare disease or group of diseases. This stage ensures a contractually defined research commitment of 50% of working hours, providing a binding framework within which the ACS4Rare can establish an independent working group and actively contribute to the SE research area at their institution.
Through research-oriented teaching and active mentoring, the ACS4Rare will pass on their experience to the next generation of scientists, encouraging young talent to follow the challenging yet rewarding path of a Clinician Scientist for Rare Diseases.
Costs
In the case of funding for an Advanced Clinician Scientist for Rare Diseases (ACS4Rare), the funding partners of the Alliance4Rare finance 50% of the salary, meaning that the remaining 50% is available for scientific tasks and further training. The actual full costs of this aspect of the role currently amount to around € 55,000–70,000 per year, depending on the career stage of the fellows. ACS4Rare fellowships are usually funded for three years and experience has shown that the total cost per fellowship is around € 170,000–200,000.
Our Advanced Clinician Scientists for Rare (ACS4RARE) – Level 3
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Dr. med. Simon Badura, ACS4RARE
University Medical Centre, Göttingen
Funding period: January 2023 to December 2025
Funded by Friede Springer gGmbHSimon Badura studied Human Medicine at Georg August University of Göttingen. He completed his specialist training in paediatrics and adolescent medicine at the university in 2023, and is currently undergoing specialist training in neuropaediatrics and palliative medicine. As an Anchor Clinician Scientist at Alliance4Rare, he is responsible for networking researchers at the Göttingen site.
His scientific work focuses on a group of rare neurological diseases caused by mutations in the ATP1A3 gene. These include alternating hemiplegia of childhood (AHC), rapid-onset dystonia-Parkinsonism syndrome, and CAPOS syndrome. Currently, there are no causal therapies for any of these diseases and patients experience various painful symptoms and undergo repeated stressful diagnostic procedures. The research project aims to use state-of-the-art 3D cell culture models, namely bioengineered neuronal organoids (BENOs) derived from human stem cells, to identify the underlying pathophysiology of each disease and develop therapeutic options for affected patients.
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Dr. med. Julia Körholz, ACS4RARE
University Hospital Carl Gustav Carus, Dresden
Funding period: April 2024 to December 2026
Funded by Friede Springer gGmbHJulia Körholz studied Human Medicine at the University of Freiburg and the Technical University of Dresden, where she received her doctorate in 2020. Dr. Körholz has many years of experience working clinically and scientifically on congenital immunodeficiencies. As a fellow of the Else Kröner Research College for Rare Diseases, she began researching SOCS1 haploinsufficiency, a relatively new monogenetic immunodeficiency. Thanks to a grant from Friede Springer gGmbH, she can now continue her scientific career as an Alliance4Rare Anchor Scientist and promote networking among researchers in Dresden.
Immunodeficiencies are not just diseases that increase susceptibility to infection. Congenital disorders of the immune system can also present as autoimmunity and immune dysregulation. Patients with SOCS1 haploinsufficiency, for example, exhibit overactivation of the immune system with symptoms resembling lupus erythematosus.
The aim of the research is to understand the signalling pathways that are dysregulated by the immunodeficiency, and to identify those affected who are at an increased risk of severe disease manifestations. The goal is to develop targeted, personalised therapeutic approaches for patients that can slow down excessive immune activation. Furthermore, knowledge gained from research into monogenic immunodeficiencies will help improve our understanding of inflammatory processes in non-monogenic immune dysregulation diseases, potentially leading to new therapeutic approaches for this patient group. -
Dr. med. Nina-Christine Knopf, ACS4RARE
University Hospital Carl Gustav Carus, Dresden
Funding period: August 2022 to July 2023
Funded by Friede Springer gGmbHNina-Christine Knopf studied Human Medicine at the Universities of Hamburg and Bonn. She completed her specialist training in paediatric and adolescent medicine, as well as paediatric rheumatology, in Cologne.
Dr Knopf’s research focuses on autoinflammatory diseases, with a particular interest in identifying new biomarkers to predict disease relapses and improve therapy management. She is currently collaborating with colleagues from Würzburg and Luxembourg to analyse gene expression in children with SURF (systemic recurrent fever of unknown origin). The Alliance4Rare enables her to dedicate more time to complex clinical cases alongside her specialist work during specialist consultation hours and campus-wide consultations, thereby accelerating the diagnosis of rare diseases.
Level 4: Endowed professorship
An endowed professorship for rare diseases is the crowning achievement in a career and opens up an attractive long-term perspective for clinician scientists who have already established themselves over many years in both scientific and clinical fields. Without the involvement of civil society, this would not be possible in the field of rare diseases. It is aimed at ‘influencers’ who, through the publication of ground-breaking research, participation in numerous clinical studies, and close cooperation with patient organisations, have become recognised experts in their respective diseases (or disease groups) and competent points of contact for those affected.
As an important signal in the academic landscape, the significance of an endowed professorship extends beyond the funding itself and helps to sustainably establish translational research on rare diseases, generate international visibility, and significantly enhance medical care for affected individuals in Germany.
Costs
Endowed professorships are typically funded with at least one million euros for a maximum term of ten years. These funds are used to finance the research-related personnel costs of the position holder, which should amount to 50% of a W3 professorship salary. The remaining funds are distributed over the term and can be used by the post holder for research purposes at their discretion. After an initial funding period of five years, and subject to a positive interim evaluation, an extension of up to five years is possible. Funding ends prematurely upon appointment to a permanent professorship.
The first endowed professorship for rare diseases — Level 4
At the beginning of 2024, Germany’s first endowed professorship for rare diseases was jointly advertised by the Else Kröner-Fresenius Foundation and the Eva Luise and Horst Köhler Foundation, and awarded to Dr Angela Schulz from UKE Hamburg-Eppendorf at the beginning of 2025. The overwhelming response to this call — 37 predominantly high-calibre applications — highlights the significant demand for a professorship specialising in rare diseases.
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Dr. med. Angela Schulz
University Medical Center Hamburg-Eppendorf (UKE):
Funding period: 2025–29. Funded by the Else Kröner-Fresenius FoundationAngela Schulz, a palliative care physician, works as a senior physician at the UKE Hamburg’s Center for Obstetrics, Paediatrics and Adolescent Medicine, where she conducts research into neuronal ceroid lipofuscinosis (NCL), a form of “childhood dementia”. NCL describes a group of rare metabolic diseases in which certain substances cannot be broken down in the brain and accumulate. This results in the death of nerve cells and serious neurological damage. Children with NCL appear healthy at birth, but then progressively lose their cognitive and motor skills, become blind and suffer from epilepsy, usually dying before the age of 30. The disease is genetic and can be divided into 13 different forms.
Dr Angela Schulz has been involved in several clinical trials and has published numerous landmark papers. Her tireless work led to the first, and so far only, approved enzyme replacement therapy for CLN2, which halts the progression of the disease. Throughout her career, Dr Schulz has established a centre for NCL at the UKE, advancing NCL research internationally. The centre is considered the most important point of contact in Germany for the care of patients and support for affected families. She is currently particularly committed to establishing newborn screening for CLN2, as early diagnosis of childhood dementia is essential to reduce irreversible neuronal damage and enable timely therapeutic interventions.
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