The Lowe Syndrome Foundation is offering a summer fellowship to an Einstein student in order to conduct research on the oculocerebrorenal syndrome of Lowe (OCRL), also known as Lowe Syndrome. OCRL is a rare X-linked disease characterized by congenital cataracts, Fanconi syndrome of the renal proximal tubules, neurological dysfunction, and developmental delay.

The research will be carried out in the laboratory of Robert L. Nussbaum, M.D. Chief of Medical Genetics at the University of San Francisco Medical Center, who discovered the gene responsible for OCRL by positional cloning. He demonstrated that the gene encodes a phosphatidylinositol (4,5) biphosphate 5-phosphatase that was shown to be enriched in the trans-Golgi network and early endosomal compartments. Prior to joining UCSF, Dr. Nussbaum was Chief of the Genetic Disease Research Branch of the National Human Genome Research Institute.

James, Age 9

We are in the process of collaborating with medical institutions to provide medical scholarships to students focusing their research on specific topics related to Lowe Syndrome.

There are many other meritorious research projects both here in the US as well as internationally that are in need of funding. Examples of current research projects that are currently being funded by the UK Trust in regards to Lowe Syndrome can be reviewed at www.lowetrust.com