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Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… cues, cells send and receive signals through biological pathways. the molecules that make up biological pathways … regulation of genes and in the transmission of signals. metabolic pathways make possible the chemical reactions that occur in our bodies. an example of a metabolic pathway is the process by which cells break down …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… (iem) are a group of disorders that causes a block in a metabolic pathway leading to clinically significant … they also have the disorder. we recommend talking to your metabolic specialist and/or genetic counselor to determine … based (1) the position of the defective enzyme within the metabolic pathway and (2) whether or not there is any …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… institute on aging. dr. harris studies genes and molecular pathways that contribute to healthy adult stem cells, cells … a postdoctoral fellow in nhgri's medical genomics and metabolic genetics branch. dr. parker had attended east … molecular genetics section of nhgri's medical genomics and metabolic genetics branch. "it was a perfect fit," said dr. …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… cancer, and shed light on the role of mitochondria and metabolic pathways in cancer. the results also support the growing … content … rare kidney tumor provides insights on role of metabolic changes in cancer … tcga researchers have found …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… declare that their findings "may help shed light on pathways important for the development of vaccines and immune …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society. ​
… genetic mutations that lead to perturbations in normal metabolic pathways and cause disorders such as cancer and birth … the constituents of folate, vitamin b12, and homocysteine metabolic pathways . the team also established that genetic …
Staff
Dr. Charles Venditti is a senior investigator in NHGRI's Center for Precision Health Research.
… the hereditary methylmalonic acidemias (mma) and cobalamin metabolic disorders. the clinical research studies are … enzymopathies belong to the organic acidemia category of metabolic disease, and represent a group of collectively … complex and prevalent disorders, and perhaps, suggest new pathways to target for therapeutic interventions in these …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… these new grants, researchers will study gene networks and pathways in different systems in the body, such as skin, … in the program, researchers aim to study gene networks and pathways in different systems of the body, such as skin, … how glucocorticoids control both anti-inflammatory and metabolic responses. university of massachusetts medical …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… in which investigators use genetic variation to identify pathways that can be targets for common diseases, such as … health research, formerly the medical genomics and metabolic genetics branch, studies how health and disease are related to genetic, genomic and metabolic variation. ​ … the center for precision health …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… in molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments … ph.d. … marjan huizing, rare diseases, genetic disorders, metabolic disorders … marjan huizing, rare diseases, genetic disorders, metabolic disorders … dr. marjan huizing is a staff scientist …