Lowe's Syndrome News and Research

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Lowe's syndrome (also called oculocerebral renal syndrome), is an X-linked recessive disorder, affecting males. Initially recognized in 1952, by Lowe, Terry and McLahan who described the triad of congenital cataracts, mental retardation and generalized aminoaciduria.

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

The American Society of Human Genetics (ASHG) has named Robert L. Nussbaum, M.D., chief medical officer of invitae and clinical professor of medicine (volunteer) at the University of California, San Francisco (UCSF); Roderick R. McInnes, CM, M.D., Ph.D., director of the Lady Davis Institute at the Jewish General Hospital and Alva chair in human genetics, Canada Research chair in neurogenetics, and professor of human genetics and biochemistry at McGill University; and Huntington F. Willard, Ph.D., president and director of the Marine Biological Laboratory and professor of human genetics at the University of Chicago; as the 2015 recipients of its annual Award for Excellence in Human Genetics Education.

1 Jul 2015

Study is the first to show that lowering the levels of lipid in nerve terminals affects the efficiency of neurotransmission

Yale researchers demonstrate the crucial role of a membrane lipid called phosphatidylinositol-4,5-bisphosphate (PtdIns (4,5)P2) in the communication of information between synapses in the brain, according to a study published this week in Nature.

26 Sep 2004