BDSRA is one of the leading research and support organizations for Batten Disease and families of Batten victims. BDSRA awarded 13 research grants on July 28, 2001 at their Annual Conference.
Included in the list below is the FIRST BATTEN DISEASE SUPPORT and RESEARCH ASSOCIATION POST DOCTORAL FELLOWSHIP. This was awarded to Susan Cotman, Ph.D., Massachusetts General Hospital and Harvard Medical School. Dr. Cotman is a neurobiologist and will be devoting 100% of her time to working her project on Juvenile Batten Disease. The Post Doctoral Fellowship is for three years and is renewable each year based on a review of her work. Dr. Cottman will be working in the laboratory and under the direction of Marcy McDonald, Ph.D..
1. Exploration of blood brain barrier
integrity in juvenile NCL (JNCL).
Jonathon Cooper, Ph.D. - $2700
2. Viral-Mediated Gene Therapy for Infantile Neuronal Ceroid Lipofuscinosis - Mark Sands, Ph.D. - $35,000
3. Genotype-Phenotype Studies in a Major Mutation JNCL mouse model - Susan Cotman, Ph.D. - $39,401 - FELLOWSHIP
4. Targeted Phenotypic Knockout Drosophila PPT1 Function using Double Stranded RNA Interference Technology - Quynh Chu-LaGraff, Ph.D. - $10,500
5. Characterization of a mouse model of infantile NCL (INCL) and subsequent assessment of therapeutic efficact. STUDENTSHIP - Jon Cooper, Ph.D. - $21,000
6. CLN2p/TPP-1 Processing of Subunit c Channel, Julie McGeoch, Ph.D. - $21,400
7. Development of an in situ assay for CLN2 - Beverly Davidson, Ph.D.- $35,064
8. Stem Cell Therapy for the Lipofuscinosis, Martin Katz, Ph.D.. - $30,000
9. The Role of Tripeptidyl Peptidase-1, The Product of the CLN2 Gene, In Neuropeptide Degration. Michael Warburton,Ph.D. - $6750
10. Molecular, Morphological, and Biochemical criteria of CLN children of Cordoba, Argentina. - Ines Noher de Halac, Ph.D. - $20,900
11. Using C. elegans to investigate CLN1 and CLN3. - Sara Mole, Ph.D. - $17,000
12. Molecular characterization of neuronal ceroid lipofuscinosis in Merino sheep and Devon cattle. - Imke Tammen, DVS - $31,974
13. Function of CLN3 Protein in Non-Neuronal Cells - Michael Bennett, Ph.D. - $10,000
Also included in the awards is a "Studentship". The studentship is for a doctoral candidate who will work on Batten Disease under the direction of Jonathon Cooper, Ph.D..
Of interest is the proposal of Ines Nohar de Halac, Ph.D. Dr. de Halac is associated with the Cordoba Children's Hospital in Cordoba, Argentina. BDSRA's grant to Dr. de Halac will provide for the establishment of enzyme assays and DNA tests for diagnosis and carrier testing of Batten Disease in South America.
Dr. Rose-Mary Boustany, at Duke University, has identified the CLN3 gene that causes Juvenile Batten, the form of Batten that Connor has been diagnosed with. She and her team of scientists are working on a drug that has not been approved yet in the United States that prevents the neurons from dying even when the gene for JNCL is absent or defective. In addition, they are working on gene therapy and other avenues.
Another team of scientists at Cornell University is currently working on a gene replacement therapy which, when it is successful, will be a cure for the CLN2 strain of Batten. This technology can be applied to CLN 3 and up to 40 other childhood genetic diseases and save thousands of lives each year. This therapy is designed to "reprogram" the defective gene, thereby stopping progression of the disease, and in some cases, reverse the damages.
One of the biggest organizations in the Batten Disease research efforts is the Batten Disease Support and Research Association. The research grants listed above were the result of their fund raising efforts. Donations can be made directly to BDSRA by visiting www.bdsra.org.
To donate directly to Dr. Rose Mary Boustany's research efforts:
Make Checks Payable to:
Duke University Dept. Pediatrics/RMBoustany
Mail to:
Dr. Rose Mary Boustany
Duke Medical Center
Box MSRB
2604 Research Dr.
Durham, North Carolina, 27710
Enclose a letter stating:
"This money is a gift uniquely targeted to Dr. Rose Mary Boustany for the research of Juvenile Batten Disease and apoptosis (CLN3) research.
No portion of this donated money is to be used for any other research program or University overhead."
This donation is being sent in behalf of Connor Allbee of Reno, NV who was diagnosed with Juvenile Batten Disease in June 2001. Thank you for the work you are doing in behalf of Connor and all of the other children suffering from JNCL.