Assay for Predicting the Time of Onset of Niemann-Pick Disease Type C (NPC)

Niemann-Pick Disease, type C (NPC) is a rare, autosomal recessive, neurodegenerative disease. Approximately 95% of patients with NPC have mutations in NPC1, a gene implicated in intracellular cholesterol trafficking. Mutation of NPC1 causes intracellular accumulation of unesterified cholesterol in late endosomal/lysosomal structures and marked accumulation of glycosphingolipids, especially in neuronal tissue. Thus, NPC patients generally present with hepatosplenomegaly (enlargement of liver and spleen) and neurological degeneration.

Human Fibroblast Cell Lines with PMM2 Congenital Disorder of Glycosylation for Therapeutic Development

Congenital disorders of glycosylation (CDGs) are inherited disorders of abnormal protein glycosylation that affect multiple organ systems. More than 100 different CDGs have been described, affecting protein and lipid glycosylation. NHGRI investigators have been able to isolate fibroblasts from patients with PMM2 (phosphomannomutase)-CDG, also known at CDG type Ia, which is an inherited, broad-spectrum disorder with developmental and neurological abnormalities.

Synthesis and Use of Positive Allosteric Modulators to Modify D1 Dopamine Receptor Activity

This technology relates to the creation and use of newly identified ligands to the D1 dopamine receptor (D1R). The D1 dopamine receptor is linked to a variety of neuropsychiatric disorders and represents an attractive drug target for the enhancement of cognition in schizophrenia, Alzheimer disease, and other disorders. These ligands are positive allosteric modulators (PAMs) that bind to the dopamine receptor at a site other than where dopamine binds and causes the receptor to have an increased response.

La Protein as a Novel Regulator of Osteoclastogenesis

Millions of patients in the United States are afflicted by a host of bone diseases caused by osteoclast (specialized calls arising from the macrophage/monocyte lineage) dysfunction. Diseases include Paget’s disease, osteoporosis, fibrous dysplasia and osteolytic bone metastasis. The current standard of care for these diseases uses broad-spectrum therapies that either coat the skeletal system or inhibit osteoclast development in an effort to modulate osteoclastogenesis.

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