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GSD-Ia is an inherited disorder of metabolism associated with life-threatening hypoglycemia, hepatic malignancy, and renal failure caused by the deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC). Current therapy, which primarily consists of dietary modification, fails to prevent long-term complications in many patients, including growth failure, gout, pulmonary hypertension, renal dysfunction, osteoporosis, and hepatocellular adenomas (HCA).

GSD-Ia is an inherited disorder of metabolism associated with life-threatening hypoglycemia, hepatic malignancy, and renal failure caused by the deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC). Current therapy, which primarily consists of dietary modification, fails to prevent long-term complications in many patients, including growth failure, gout, pulmonary hypertension, renal dysfunction, osteoporosis, and hepatocellular adenomas (HCA).

Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder caused by deficiencies in glucose-6-phosphate transporter (G6PT), a ubiquitously expressed endoplasmic reticulum (ER) protein that translocates G6P from the cytoplasm into the ER lumen.  Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α or G6PC) or the ubiquitously expressed G6Pase-β.  G6PT and G6Pase are functionally co-dependent and form the G6PT/G6Pase complexes.

Currently, there is no other whole-animal reporter for epigenetic regulation established in any vertebrate. 

The National Institute of Child Health & Human Development (NICHD), Program in Genomics of Differentiation, seeks interested parties to further co-develop small molecule inhibitors of RNase H1, especially in regards to genome instability, transcription, and translation.

A significant challenge in developing therapies for the treatment and prevention of cancer has been the discovery, selection, and exploitation of antigens.

The limited choice in cell types available for in vitro studies has become an obstacle in hibernation research. 

Researchers at the National Eye Institute for the first time have successfully established iPSC line(s) from a mammalian hibernator, which can be potentially used to generate various cell types and tissue models for in-depth mechanistic studies of hibernation and coldness tolerance in vitro. 

Although multidimensional diffusion/relaxation NMR experiments are widely used in materials sciences and engineering applications, preclinical and clinical MRI applications of these techniques were not feasible. Moreover, higher-field MRI scanners posed another obstacle to translation of this NMR method. Their specific absorption rate (SAR) limits the use of multi-echo or CPMG pulse trains, so that the large amounts of data required by these methods cannot be collected in vivo due to exceedingly long scan times.

Scientists at the Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD) have developed a method implemented as pulse sequences and software to be used with magnetic resonance imaging (MRI) scanners and systems. This technology is available for licensing and commercial development. The method allows for measuring and mapping features of the bulk or average apparent diffusion coefficient (ADC) of water in tissue – aiding in stroke diagnosis and cancer therapy assessment.

The Hippo signaling pathway regulates a multitude of biological processes including cell proliferation, apoptosis, differentiation, tissue homeostasis, and stem cell functions. This axis has been recently listed as one of the top 10 signaling pathways altered in human cancer. Its role in modulating cell growth and proliferation is mediated by the activation of Yes-associated protein 1 (YAP1) and transcriptional co-activator with PDZ-binding domain (TAZ).