Ekansh Agrawal L&S Biological Sciences
Leveraging CRISPR for Enhanced Diagnosis and Therapeutics for X-SCID
X-linked Severe Combined Immunodeficiency (X-SCID) is a genetic disease that predominantly affects XY individuals. It is caused by mutations affecting the IL2RG gene on the X-chromosome and occurs in roughly 1/50,000 to 1/100,000 births. The genetic disease itself affects the expression of the common gamma chain found in a variety of immune cell receptors such as Interleukin-2 Receptor (IL-2) and interleukin-7 Receptor (IL-7). This can result in low numbers of T-cells, Natural Killer Cells, and low B-cells causing patients to be increasingly susceptible to diseases. Without treatment, undiagnosed children typically do not survive past two years of age.
Because the disease is so rare, however, I hypothesize that there are additional mutations that could lead to X-SCID that are not recognized in databases and lead to better early diagnosis. Using CRISPR screening in primary human T cells, it should be possible to test hundreds of mutations in parallel and observe their effects on T-cell proliferation. Additionally, the efficiency of corrective knock-ins for X-SCID can be investigated as a possible alternative to existing treatments involving bone marrow transplantation.
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