Search
Subscribe Newsletter
German Version  englisch.gif

Donations account:

Account number: 1059223030

Bank code: 200 505 50
Bank: Hamburger Sparkasse

Donations from abroad:

IBAN: DE5020050550 1059223030
BIC/Swift Code: HASPDEHHXXX


dzi_logo.gif

Current promotions

I. Co-funded doctoral fellowship (NCL Foundation / university)

In July 2007 the first doctoral fellowship co-funded by the NCL Foundation was completed at the University Medical Center Hamburg-Eppendorf in Prof. T. Braulke's research group. The doctoral candidate Sandra Pohl worked on the topic "Analysis of modified expression of genes in the brain of CLN3-defective mice." One of the objectives was to elucidate the unknown function of the CLN3 protein.

The fellow's work provided the basis for three scientific publications:

1. A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting.
(J. Biol. Chem. 2004 Dec 17; 279 (51): 53625-34. Storch S., Pohl S., Braulke T.)
 
2. C-Terminal Prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.
(Traffic. 2007 Apr; 8 (4): 431-44. Storch S., Pohl S., Quitsch A., Falley K., Braulke T.)
 
3. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
(J. Neurochem. 2007 Dez; 103 (6): 2177-88. Pohl S., Mitchison H.M., Kohlschütter A., van Diggelen O., Braulke T., Storch S.)
 
Since finishing her PhD studies Dr. Pohl has been committed to research in the lysosomal storage disease field. 7 additional articles have been published by her and her colleagues.
 

II. Co-funded research project (foundation / foundation)

1. The NCL Foundation and Ernst and Elfriede Griebel's Research Promotion and Support Foundation jointly supported the NCL Project "Functional and morphologic examination of the retina in a CLN3 knock-in mouse model" (Prof. Rüther,  Charité, Berlin) in 2005. It was the first co-funded project of the two foundations. This project focussed on detailed analysis of retina and visual function in the CLN3∆ex7/8 knock-in mouse model. Several methods such as electroretinography, pupillography, adaptometry and retinal angiography were used. The analyses served as preparation for the study of therapeutic intervention strategies. Originally, Sue Cotman (Boston, USA) provided the mouse model to Prof. Schliebs of the Paul Flechsig Institute (Leipzig). She has generated this particular model. Prof. Schliebs expanded the mouse breeding. After that he has sent these mice to Prof. Rüther. This laid the foundation for a follow-up application and further expanded the NCL network.

2. Since June 2007 the two foundations have supported the follow-up project of Prof. Rüther with an amount of € 25,000. This project is based on detailed study of a knock-in mouse model back-crossed on a C57black 6 background from Susan Cotmann (USA). The focus is again on the analysis of retina degeneration processes.

3. Since the beginning of 2007 the NCL Foundation has promoted health services research on NCL with generous support from McDonald?s Kinderhilfe Foundation. The grant from McDonald's Kinderhilfe of nearly € 50,000 enabled the NCL Foundation to purchase a total of 20 speech computers that are used in institutions for the blind throughout Germany. Currently, the German version of the speech software "Structure" is being installed. On 8 September 2007, the first training program for teachers from institutions for the blind was offered at the pilot school, the Borgweg School for the Blind in Hamburg.

Research in this area is important because young NCL patients and their parents find the loss of speech one of the most terrible problems. Children lose their ability to speak long before they lose their ability to comprehend speech. Typical symptoms are:

 - Disorders of speech flow like stuttering and stammering

 - Repetitions and difficulty finding words

 - Grammar errors, e.g. no word "bending" at word end

 - Difficulties starting a conversation and later complete loss of speech

The young patients find it increasingly difficult to express themselves and are no longer understood. This causes severe psychological problems resulting in aggression and/or depression. Disappointments and the loss of already learned skills devastate the child's self-confidence. Inability to take part with others in kindergarten, school or leisure activities results in isolation and reduced quality of life.

Use of communication aids like speech computers can make an important contribution to improving quality of life of NCL children and their parents. The children have the chance to continue to communicate longer with those around them. The "Structure" software developed specifically for this problem can be run on a laptop with text and voice output.

 Press articles from the journal Propraxis Pädiatrie as a PDF (~70KB)

4. Function of CLN3 Prof. Davidson, USA
The NCL-Foundation supports together with the BDSRA a new research project (May 2008). The group of Beverly Davidson got a grant for one year. The aim of the study is to decipher the function of CLN3.
 
 
 
 
Dr. Colleen Stein
 
5. Gene therapy for juvenile NCL Prof. Crystal, USA
Since August 1, 2008 the foundation funds the development if a gene therapy for the juvenile NCL in Prof. Ronald Crystal's laboratory. This project was started due to the generous support from "Bild hilft - Ein Herz für Kinder". More details will come soon.
 
6. Collaborative effort of the R+W-Foundation and the NCL-Foundation 
The joint project “Pathogenic impact of immune-related cells in two models of neuronal ceroid lipofuscinosis” of the laboratories of Prof. Rudolf Martini and Dr. Jonathan D Cooper initiated in November 2008. Since then, regular scientific exchange has taken place and first results have been gained by collective research. Members of the laboratory of Prof. Rudolf Martini including the doctoral fellowship holder Janos Groh visited the laboratory of Dr. Jonathan Cooper in London in order to share concepts and scientific techniques. During a visit of Jonathan Cooper in the Martini laboratory in Wuerzburg this exchange has been extended. First data gained in the CLN3-deficient mouse model of JNCL (Mitchison et al., 1999) confirm the presence of immune cell reactions in specific regions of the CNS in this model and pinpoint towards early but abnormal microglial reactions in the pathogenesis. Especially affected areas were the thalamus and cortex. So far, analysis of optic nerves did not reveal an overt immune cell reaction at early time points in pathogenesis. Future aims of the cofunded project will focus on the detailed functional characterization of these immune cells in both analyzed models of neuronal ceroid lipofuscinosis.
 

print.gif up.gif