Since 2002 we have been investigating the field of NCL research. We want to understand what causes this fatal disease. Our ambitious aim is to develop a therapy in order to be able to cure NCL. Therefore, the € 50,000 NCL research award is awarded each year to projects that contribute to curing NCL. Furthermore we fund scholarships with our donations. Worldwide we are the biggest single sponsor in this area. To react quickly to new developments, we also offer short-term start-up support. These short projects can be extended to larger ones where appropriate. And because there are many overlaps between childhood and adult dementia, the Neurodegeneration Award was initiated this year.
For questions on the subjects of research and development or funding please contact Dr. Herman van der Putten.
A compilation of all currently funded research projects can be found in our annual review.
Postgraduate and research scholarships are awarded for up to three years. Regular reports and visits to laboratories are part of the programme. Candidates for funding can be recommended by their supervisors followed by an interview with our research leader. Here, two of them present their projects:
In Cooperation with Evotec, Daniela will test 2,000 compounds on a human CLN3 cell model and examine whether one of them can improve the condition of the defective neurons. Thanks to its infrastructure and many years of experience Evotec is the ideal partner to carry out high-throughput-screenings.
Supervisor: Dr. Guido Hermey, UKE, Hamburg
Funding Partners: Heinrich Hartmann Stiftung
Katarzyna studies how mitochondrial-lysosomal signaling differs in the absence of CLN3.The ultimate goal is to tease out metabolic consequences of CLN3-deficiency in the hope that this will generate new insights into perturbed pathways to be corrected and therapeutic approaches.
Supervisor: Dr. Nuno Raimundo, University Medical Center, Göttingen.
Funding Partners: dgroup, Hans Rosenthal Preis, HAORI-Stiftung Bremen, Heinz und Heide Dürr Stiftung, Online-Aktion von Julia Risel, von Poll GmbH.
Heart problems are a typical accompanying disease of NCL. In her research project, Emily is investigating cardiac muscle cells which host the NCL defect to find out their functionality.
Supervisor: Dr. Katja Rietdorf, The Open University, Milton Keynes
Funding Partner: Batten Research Fonds, Bijou Brigitte Stiftung, Böttcher-Stiftung, NCL-Golf-Trophy, RT4 golf tournament, Stichting Beat Batten
Gemma has successfully used the CRISPR/Cas method to produce hiPS cells with CLN3 mutations, which are similar to patients' cells but have the same genetic background. These cells form the basis for her studies and, have become important tools for other laboratories to test potential drugs.
Supervisor: Prof. Dr. Hans Schöler, Max Planck Institut Münster
Funding Partners: Batten Research Fonds, Berti Vogts, Münster Krimi Cup
Clinical-orientated projects are particularly prizeworthy. The prize money is used to fund postdoctoral fellows, to implement the submitted project and to promote young scientists. In order to find a cure for jNCL, scientists from all over the world are encouraged to submit their projects, especially those from related fields like Alzheimer's, ageing and lysosomal storage diseases.
The 12th NCL Research Award 2022 was given to the project "Lysosomal storage-associated genes in CLN3 disease" by Prof.
Diego Luis Medina, Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli, Italy.
His project is about studying the emergence of the pathological cellular deposits in juvenile NCL (CLN3).
The mechanism of accumulation of pathological degradation products in cells in CLN3 is still largely unknown. Diego Medina's research approach could make a decisive contribution to clarifying this and thus open up new possibilities for therapy.
Funding Partner: Joachim Herz Stiftung.
Thanks to the great support of the Joachim Herz Stiftung, we were able to announce another €100,000 grant. The so-called Neurodegeneration Award 2018 covers a postdoctoral fellowship salary for two years. The aim is to foster and improve synergies in resarch into NCL childhood dementia and age-related neurodegeneration. Two laboratories from the above-mentioned fields must apply jointly. The postdoctoral fellow should thus have the opportunity to conduct research in both laboratories to ensure the exchange of respective expertise.
The "Neurodegeneration Research Award" 2018, endowed with 100,000 euros, goes to two neuroscientists from Munich and Boston: Sabina Tahirovic, from the German Center for Neurodegenerative Diseases e.V. (DZNE) and Susan Cotman, from Massachusetts General Hospital, will use the prize money to research commonalities between dementia in children and adults.
The focus of the two-year project are the immune cells of the brain. For all their differences, childhood dementias share a number of similarities with Alzheimer's disease. These include the activation of the brain's immune cells, known as microglia. As a result, chronic inflammation develops. The scientists want to understand how the microglia change in childhood dementia and why they enter a state of permanent activation.
On this basis, new targets for therapy are to be found, which could also be explored with regard to the treatment of Alzheimer's disease.
Funding proposals can also be requested for smaller projects. These projects shoud consist of research intended for practical application intended to form the basis of new projects.
Because childhood dementia NCL is so rare, many doctors are not familiar with the disease. The consequences are numerous misdiagnoses and a diagnosis time of two to four years.
An agonising time of uncertainty for the children and families. Furthermore, an early diagnosis is also of great importance for further family planning, as NCL is a genetic disease. That is why
we are using various measures to specifically raise awareness among doctors and students.
So we organize symposia together with NCL experts at medical congresses and give lectures at clinics and in specialist circles. We also distribute NCL leaflets for ophthalmologists and paediatricians.