The path to discovery of a therapy for any rare disease is a long and arduous one. Many experiments will be made some successful some not. However, strides are being made within the JNCL research field, small ones, but forward is the direction.

For many of the children suffering with JNCL, time is of the utmost importance and we can all play our part in this journey to success.

Below is a simplified path to discovery and clicking on each picture will reveal a more in depth description.

Gene - As with any disease one of the most important steps that research takes is to locate the defective gene that causes the disease. With the gene located the door to discovery is opened.

For JNCL, the hunt for the JNCL gene (Cln3) ended in 1995 in the lab of Terry Lerner at Massachusetts General Hospital.

Protein - Most genes code for proteins and if the gene is damaged then it is likely that the protein will not be expressed. The function of the protein is important to know so that the disease progression can be understood. With the protein function known, drug development and discovery could be targeted so that at least slowing and controlling of the disease may be achieved.

Disease Mechanism - This is a very complex area of the path to discovery. In JNCL the lack of a protein has catastrophic affects on the brain. The neurons are being systematically killed but why would a lack of a protein have such a profound effect? Is it the lack of such a protein or does the protein interact with some other pathway requiring this protein, that causes this degeneration. As part of understanding the disease mechanism an urgent need is required regarding the pathology of JNCL of which is little known or documented. 

Therapy - Therapies can be targeted towards different outcomes. The primary objectives for a catastrophic disease such as JNCL, are; Slowing/controlling the disease progression, Halting the Disease progression and reversal of the disease.

Typically they can be categorized as:

Scientific Tool Kit - For any of the above core research areas, there is a requirement to have access to the latest tools and evaluation centers to aid in discovery of the relevant information. Today's technology has allowed science to progress at an exponential pace. Tools come in various forms from high end computing power such as micro array systems, MRI PET scans etc. to bio-chemical tools known as reagents.

Reagents such as animal models that mimic the disease can rapidly increase therapeutic discoveries. Other reagents are antibodies, cDNA etc. A major discovery of a model for JNCL has been the yeast homolog for JNCL.

For success of any therapy to be gauged a prior evaluation criteria needs to be established. This is where the evaluation centers are extremely important. The objective of these types of centers are to establish not only the scientific element of the disease etc., but the clinical attributes associated with the specific individual.

In the battle for scientific discoveries, it is important that relevant information that pertains to all discoveries be made available so that rapid progress can be achieved.