Aleixo Muise, MD, of Toronto's Hospital for Sick Children, discovered a genome mutation leaving patients with little to no cellular-based proteins, Global News reports.
Here's what you should know.
1. Dr. Muise had been treating a young boy for inflammatory bowel disease, whose disease was increasing in severity. The boy eventually developed unusual rashes, painful lumps and a high white cell count with low platelet levels in his blood.
2. Several physicians including blood disorder, cancer, rheumatology, immunology and gastroenterology specialists, could not decipher the illness' cause until Dr. Muise began exploring the IBD's genetic basis.
3. Dr. Muise included the boy's genome in his investigation. Researchers were using whole-exome sequencing when they discovered mutation that was not previously identified.
4. The defect was in the ARPC1B gene, which produces protein needed for cells to change shape, move and divide among other functions. The boy's gene did not produce protein.
5. Researchers later found two other patients with the similar lack of protein and eventually 20 children worldwide with this genetic mutation.
6. Dr. Muise published the discovery in Nature Communications.
7. Dr. Muise and the boy's other physicians believe a bone-marrow transplant could cure him of the disease.