His research group utilises computer technology and powerful mathematical methods to extract meaningful information from vast amounts of clinical and molecular datasets to identify patterns of protein and gene expression related to different diseases. He is able to use his powerful techniques in the fields of Alzheimer’s disease, multiple sclerosis, protest cancer and melanoma. In Australia, Alzheimer’s disease is huge health burden, with one person diagnosed with Alzheimer’s disease every 6 minutes. Symptoms of dementia are often noticed by family members three years before an official diagnosis. This suggests that changes could happen in the body long before the disease is fully developed. Pablo suggests that these changes might begin to happen 10 years before the patient is diagnosed. Pablo’s research for the last few years has focused on finding biomarkers (proteins in human blood) that could be identified in patients with Alzheimer’s Disease and then used to predict who will go on to develop the disease in the next few years.
In his research, Pablo has used powerful computer programs to search through large datasets collected from different Alzheimer’s studies around the world. He has been able to show that patients that went on to develop Alzheimer’s disease expressed a group of proteins differently to normal patients. He called this a 5-protein biomarker signature. Using powerful computer programs, he was able to predict with 96% accuracy, which patients would go on to develop Alzheimer’s disease.
In his work, Pablo identified a particular gene called VSNL1 (a gene for a calcium sensor protein, found in neurons). Pablo looked for this gene in a dataset of patients from Arizona and found the expression of this gene to be lower in 5 out of 6 brain regions in Alzheimer’s disease patients. In fact, the abundance of this VSLI gene in spinal fluid is now thought to be a predictor of the rate of decline of patients with Alzheimer’s disease. Pablo identified this gene as important and now researchers around the world have verified its importance in the clinical setting.
What Pablo needs for the future:
Pablo has a number of other biomarkers that are awaiting funds for testing in the clinical setting. The generous donor funds would allow him to develop an independent plan for continuing his studies in Alzheimer’s disease and dementia and neuro-degeneration. He needs to do further work in silico (i.e. using his powerful computer techniques) but also needs to be able to validate the proteins he identifies in the laboratory. His work will continue to help the international research community to think outside the box.