While the researchers may be on the edge of critical advancements in the understanding and potential treatment of Batten disease, funding for research into this disease is very difficult to obtain. It is especially hard to compete with well known diseases such as Cancer, Alzheimer’s disease and Parkinson’s disease that are more prominent in the minds of the public and government funding bodies due to the larger numbers in affected population. However, it needs to be understood that improving our understanding of Batten disease will not only improve the outcome for families affected by this terrible disease but will translate into greater insights into the disease processes in other forms of brain degeneration.
Australia is in a unique position to make important advances in the understanding of Batten disease.
BARN (Batten Animal Research Network)
BARN is an international collaboration set up to coordinate studies of animal models of Batten Disease. This group share resources, experiments and grants, exchange students, visit each other and plan together. Dr Imke Tammen at the University of Sydney has identifed a naturally occuring sheep model of Batten disease in a flock of Merino sheep. This model is called the CLN6 model due to a mutation that matches the CLN6 form of disease in humans (Batten disease is referered to as CLN1 through to CLN9 depending on the location of the mutation). The importance of this model is that sheep have a well-developed brain structure quite similar to humans and the course of the disease (approximately 2 years) also reflects the course of the disease in children. A similar model also exists in South Hampshire sheep in New Zealand and is maintained by a leading international Batten disease researcher (Prof. David Palmer) at Lincoln University. However, sheep models are not held anywhere else internationally and so Australia is in a unique position to capitalize on the availability of the best natural model of the disease.
Collaborative research is the key to understanding Batten disease. Researchers at The University of Melbourne (Assoc. Prof. Anthony White and Dr Katja Kanninen), University of Sydney (Dr Imke Tammen) and Lincoln University (Prof. David Palmer) are currently working to identify the underlying disease processes in Batten disease using the sheep models. These studies have already uncovered critical changes in the way affected sheep control brain metabolism of biometals such as copper, zinc, manganese and iron. These biometals are essential for many neuronal functions and abnormal handling of the biometals can lead to impaired brain function and neuronal death. These results are very exciting as they reflect similar changes seen in other forms of neurodegnerative disease such as Alzheimer’s disease. Research led by Assoc. Prof. White has identified novel compounds that can help to restore the normal balance of biometals in the brain. Further research is critically needed to obtain a greater understanding of why and how biometals are altered by mutations in Batten disease and whether modulation of brain biometal levels with new drugs can slow the progression of the disease.
The following links to posters highlight the research within BARN’s collaboration.
Lincoln University, NZ – click here
The University of Sydney, NSW – click here
University of Otago, NZ – click here
University of Melbourne, VIC - click here
Carrier Testing – Womens & Childrens Hospital of Adelaide, South Australia
As an inherited autosomal recessive disorder, a child can only be affected by Batten Disease when both his/her parents carry the defective Batten’s gene. Both parents then unknowingly pass this gene on to their unborn child. There is a 25 per cent (or a 1 in 4) chance that the child will be affected with the condition when both parents are carriers. However, with two carrier parents, a child also has a 50 per cent chance of inheriting the gene from just one parent, therefore becoming what we know as a ‘healthy carrier’. Being carrier then results in the potential for occurrence in future generations.
For further detailed information on Carrier Testing or the process to seek Carrier Testing in your family, please email firstname.lastname@example.org .