We have three goals, Improve Clinical Care, Raise Awareness, and Provide a Cure for Wolfram Syndrome. Each component is important, and the most challenging one is to Provide a Cure. This is the most challenging and the most important one because this will clearly change the prognosis and life of our patients.
We need a personalized strategy to achieve a cure because each patient is different. To design personalized strategies for detecting and treating Wolfram Syndrome, we really need to completely dissect out the molecular wiring in brain cells and pancreatic beta cells in patients with Wolfram syndrome as I mentioned before. We need complete genetic information from each patient (i.e., genome sequencing). It costs $1,000 for each patient. As a next step, we need to be able to interpret the many variations that make each patient’s manifestations distinct from other patients’. Most of our patients have mutations in the same gene, WFS1, but each of our patient is different. Why? One of the reasons is that each person’s mutation is different. Another reason is that each person has different variations of genes involved in delaying the progression of the disease. I have a strategy to use this type of information for developing novel treatments. Our current strategy is to use an existing drug for delaying the progression, but we need to move up to a higher level to achieve a cure.
Thank you for reading this blog. I am grateful and hopeful.