$2,207 Raised
"As a scientist, I should not get emotional when I perform my research. But, it is easier said than done when you run into an anxious mother seeking to find the cure for her disabled A-T child."

Shyamal Desai, Ph.D.

Associate Professor, Biochemistry & Molecular Biology
LSU Health Sciences Center

As a scientist, I should not get emotional when I perform my research. But, it is easier said than done when you run into an anxious mother seeking to find the cure for her disabled A-T child.  Such was the case when I recently attended The Global A-T Neuroscience and Drug Discovery Forum in Washington D.C. This forum was organized by the A-T Children’s Project Foundation of USA to facilitate interaction between A-T researchers and A-T Children and their parents. After my presentation on ISG15 at the forum, a mother of a two year old son wanted to know whether her child had ISG15 in his brain cells. Not only was I stricken by her understanding of the causes of A-T, I felt helpless to tell her that I did not have the answer to her question. As a scientist, from a small clinical study that has been carried out in my lab, I know that ISG15 is elevated in A-T patients and may trigger neurodegeneration in A-T. But to know whether ISG15 expression is a common occurrence, and move my work from bench to clinic, we would need further testing with commercially available cells and brain tissues from A-T patients. Such research, when successful, will confirm ISG15 as a clinical signature for A-T disease, and lead to the development of drugs to control or decrease the levels of ISG15 and consequently, neurodegeneration in A-T patients, providing hope to millions of parents of A-T patients worldwide.  

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Summary

Ataxia telangiectasia (A-T), also known as Boder-Sedgwick/Louis-Bar syndrome, is a rare debilitating hereditary childhood neurological disorder caused by the degeneration of brain cells (neurodegeneration) that control movement and speech. Consequently, A-T children lose their ability to walk and perform daily activities. They become confined to a wheelchair by 12-13 years old, and die in their early 20s (see more information on A-T in the video). Currently there is no means to slow or stop the progression of neurodegeneration in A-T children. Hence, there is an urgent need to find therapeutic drugs to address this problem. To do this, we need to know what triggers neurodegeneration in A-T. My group has now identified “ISG15” (Interferon-Stimulated Gene 15) protein as a likely culprit for neurodegeneration in A-T. We still need to know whether increased expression of ISG15 is a common occurrence in A-T patients. This could be achieved by screening commercially available cells and brain tissues from A-T patients for ISG15 expression. Funds raised on Consano will allow us to establish “ISG15” as a clinical signature/biomarker of A-T disease. These findings are likely to open-up new avenues for A-T research, diagnosis, and therapy.

Why is this important?

My lab is the first to provide evidence that ISG15 may trigger neurodegeneration in A-T.  Results generated will confirm that ISG15 is a clinical biomarker for A-T. Results will also provide the basis for developing drugs to decrease the levels of ISG15, which will slow down or stop progressive neurodegeneration in A-T patients.  This is important as there is no cure or preventive medicine available to treat neurodegeneration in A-T at this time.

Who will benefit?

This research program will benefit all A-T children in the US and worldwide.

Budget

Donations to this Consano crowdfunding project will be used as follows: