Lowe syndrome: mechanism & therapeutic opportunities
Lowe Syndrome (LS) is a lethal genetic disease caused by mutations in the OCRL1 gene. This X-linked condition, also known as Oculo-Cerebro-Renal syndrome of Lowe (OCRL), is due to functional deficiencies of the lipid phosphatase Ocrl1 (EC 3.1.3.36; substrate phosphatidyl-inositol (4, 5) bisphosphate; i.e., PI(4, 5)P2). Patients show ocular, neurological and renal abnormalities, with kidney failure as the most common cause of death among affected children.
Supported by NIH R01(another R01 pending), UK-based Lowe Syndrome Trust (3 consecutive grants), Lowe Syndrome Association of America (3 grants), Clinical and Translational Science Institute (3 awards), Rare Genomics Institute (BeHeard Challenge), industry (X-Body Biosciences), and two awards from the Executive Vice-President for Research and Partnerships at Purdue University.
