Univ. researchers link gene to Lowe syndrome
Yale researchers have identified a connection between a single gene mutation and the numerous symptoms of Lowe syndrome, a rare recessive genetic disorder.
The study, published in Developmental Cell this month, identifies the exact molecular process that produces the disease, taking scientists one step closer to developing ways to treat Lowe syndrome. Led by Pietro De Camilli, a professor at the School of Medicine, the research could also have implications for treating other diseases such as cancer and diabetes.
Lowe syndrome is a rare genetic condition that can cause...
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