A team of researchers affiliated with multiple institutions in the United Kingdom has been awarded a contract to work on a mystery that is ancient. It is called Richard Sickle Cell disease and it is a hereditary condition that causes bone marrow failure that ultimately kills patients.
In a case of bone marrow failure caused by Richard Sickle Cell disease the presence of a particular mutation in a part of the PUA (Propyromeric acetyltransferase alpha) gene was found in the blood causing severe disease with concerns of a vaccine tested on mice. Soon after silencing of the gene in the blood resulted in the death of the mice. In another case a mouse model that had never been seen before showed a mutation of the PRDX gene but could not be distinguished from a healthy patient. These are the first steps in how the team intends to bring out the results of the Discovery Phase 2 which costs 50000 Euro.
The team will have two aims with regards to this project: to observe the progress of the disease to analyse whether there are therapeutic approaches and antivirals that are effective and available and to determine the possible mechanisms of bioactive molecules involved with the disease.
Dunbar Phil Jan Wessen Ph. D. Head of the University of Bergen Professor of Life Science at Sahlgrenska Academy.
Celastrol Molecular Diagnostics will initially identify and isolate patients for this project. The team will do so with biomedical research as well as pathology he explains. Clinical studies will then take place with the help of experts from the University Hospitals of Allsven F. Schwabing and Thegrd Pediatric Center. If the objective is attained they plan to photograph the responses to the experimental treatment will conduct it again if desired and will expand the study to study other gene mutations and gene targets further establishing a route for future therapeutic applications.
Besides the translational activities the researchers also intend to address the therapeutic aspects of this discovery with a clinical study and then explore whether there are commercial applications. Steiniger clarifies: People interested in clinical applications would ideally need preventive vaccines. But we need it also in the diagnostic setting to determine whether there is an entire family of gene mutations mutations in the propyromeric acetyltransferase. We want to do this in some three years because without this we would be dealing with the exact opposite situation and would have to look for the first therapeutic application if you will. If we find such a specific and consistent therapeutic application it would be a fantastic thing and it would be something we would like to pursue in future.