Bad Homburg v. d. Höhe, 27 February 2025 – Dr Angela Schulz, senior physician at the Department of Paediatrics and Adolescent Medicine at the University Medical Center Hamburg-Eppendorf (UKE), was awarded the Clinician Scientist Professorship for Rare Diseases at the beginning of the year. The aim is to advance new therapies for paediatric dementia and improve patient care. The professorship, funded with 1.1 million euros, was jointly established by the Eva Luise and Horst Köhler Foundation for People with Rare Diseases (ELHKS) and the Else Kröner-Fresenius Foundation (EKFS).

The funding allows Dr Angela Schulz to devote equal time to patient care and research into neuronal ceroid lipofuscinosis (NCL), a form of childhood dementia. Her work has led to the first and only approved enzyme replacement therapy for the CLN2 form of the disease, which halts its progression.

NCL – A Highly Challenging Disease
NCL is a group of rare metabolic disorders where certain substances in the brain fail to break down and accumulate, ultimately causing nerve cell death and severe neurological damage. Affected children appear healthy at birth but gradually lose their cognitive and motor skills, become blind, and suffer from epilepsy before passing away—often before reaching their 30th birthday. The disease is genetically determined and can be classified into 13 different forms.

"There is an urgent need for rapid and early diagnosis of childhood dementia diseases to reduce irreversible neuronal damage and enable timely therapeutic interventions. Establishing newborn screening for the CLN2 form would be an important step in this direction," explains Dr Schulz.

Outstanding Achievements in Research and Patient Care 
Dr Angela Schulz has been involved in several clinical trials and has published numerous groundbreaking papers. During her career, she has also established an NCL centre that promotes NCL research internationally and serves as a focal point for patient care and support for affected families.

"Combining patient care and research in one role is particularly beneficial for rare diseases, as it provides a knowledgeable point of contact for patients and strengthens the link between clinical practice and research," emphasises Prof. Dr Michael Madeja, Chairman of the Board of the EKFS. The professorship supports this connection and enables long-term work as a clinician scientist.

"We are delighted to be able to support a Foundation Professorship for Rare Diseases for Dr Angela Schulz. This will allow us to give a decisive boost to research into neuronal ceroid lipofuscinoses and thus contribute to continuous improvements in the treatment of children and adolescents with these rare diseases. At the same time, the academic standing of Hamburg in the field of rare diseases is further strengthened, underscoring our commitment to transferring scientific research findings into medical care," says Prof. Dr Blanche Schwappach-Pignataro, Dean of the Medical Faculty and Member of the Board at the University Medical Center Hamburg-Eppendorf (UKE).

Background on the Clinician Scientist Professorship for Rare Diseases 
The Professorship for Rare Diseases was announced in early 2024 and will be awarded in early 2025. "Our goal is to strengthen translational research in this field, increase international visibility and sustainably improve medical care for patients in Germany," explains Prof. Dr Annette Grüters-Kieslich, Chair of the Board of the Eva Luise and Horst Köhler Foundation for People with Rare Diseases. "Children with rare diseases like NCL urgently need physician-scientists who, understanding the severity of these conditions, focus on addressing key research questions."

Rare diseases are defined as conditions affecting fewer than five in 10,000 people. However, there are thousands of such diseases worldwide, collectively impacting a significant number of patients. Technological advances are creating new opportunities, particularly through physician-scientists who connect clinical practice with research.

Else Kröner-Fresenius-Stiftung (EKFS) – Advancing research. Helping people.
Else Kröner-Fresenius-Stiftung is a non-profit foundation dedicated to the funding and advancement of medical research and the support of humanitarian projects. To date the foundation has funded around 2,600 projects. With an annual funding volume currently amounting to over 70 million euros it is the largest foundation in Germany that actively funds and supports medicine. You can find more information at: www.ekfs.de/en

Press Contact
Else Kröner-Fresenius-Stiftung 
Bianka Jerke
Presse- und Öffentlichkeitsarbeit 
Tel.: + 49 6172 8975-24
eMail: b.jerke@ekfs.de
 

Eva Luise and Horst Köhler Foundation for People with Rare Diseases
In March 2006, then-German President Prof. Dr Horst Köhler and his wife, Eva Luise Köhler, established a foundation dedicated to advancing research in the field of rare diseases. The annually awarded Eva Luise Köhler Research Award is one of the most prestigious accolades in this area. With Alliance4Rare, the foundation has launched a visionary care and research network for rare diseases in childhood and adolescence. https://elhks.de/en/

Press Contact:
Eva Luise and Horst Köhler Foundation for People with Rare Diseases
Eva Thull
Communication
Tel.: +49 228 299 799 96
E-Mail: thull@elhks.de