School of Medicine

Biochemistry

PUBLIC CAN HELP LSUHSC RESEARCHER STOP FATAL DISEASE IN CHILDREN

            New Orleans, LA - Shyamal Desai, PhD, Associate Professor of Biochemistry & Molecular Biology at LSU Health Sciences Center New Orleans, is asking the public to help her help children with a rare inherited brain disorder that can confine them to a wheelchair by age 12 and take their lives a decade later. Dr. Desai's lab discovered that a protein called ISG15 may  trigger brain cell degeneration in a condition called Ataxia telangiectasia, or A-T.

            “Currently there is no means to slow or stop the progression of neurodegeneration in A-T children,” notes Dr. Desai. “Hence, there is an urgent need to find therapeutic drugs to address this problem. To do this, we need to know definitively what triggers neurodegeneration in A-T.”

            She has partnered with Consano, a crowdfunding platform enabling individuals to donate directly to specific medical research projects and programs, to launch a page to raise funds to advance her work.

            Dr. Desai is seeking $25,000 to purchase A-T cell lines, commercially available tissue from patients with A-T and lab supplies to screen for ISG15. The funding will enable Dr. Desai to confirm the role of ISG15 in A-T that could provide the basis for the development of drugs to decrease ISG15 levels to slow or stop the progressive neurodegeneration or brain cell death.

            According to the National Institutes of Health, A-T causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Many children with A-T have weakened immune systems making them more susceptible to recurring respiratory infections. About 35% of people with A-T develop cancer, most often acute lymphocytic leukemia or lymphoma. Dr. Desai's lab has also demonstrated that ISG15 contributes to cancer development.

            “As a scientist, I should not get emotional when I perform my research,” says Dr. Desai. “But, that is easier said than done when you meet an anxious mother seeking to find the cure for her disabled A-T child.”

            To learn more about how to help advance Dr. Desai's research for children with A-T, visit https://www.consano.org/projects/49-ataxia-telangectasia-is-isg15-the-culprit.