Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
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 …
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 …
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 …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… responses will improve scientists' understanding of cell pathways and aid in the development of new therapies for many … … NIH awards aim to improve understanding of cell pathways, development of new therapies … NIH awards more than …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… have a comprehensive understanding of many of the genetic pathways that lead to cancers of the lung," said NCI Director …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… of some of the genetic and cellular changes in pathways and processes thought to be involved in ASD, and … identified variations and mutations in genes in three pathways that are important to normal development. In each case, the changes in these pathways were linked to autism risk. They include: Synaptic …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to … … About Trimethylaminuria … Trimethylaminuria is a metabolic condition in which an individual is not able to … Treating A Genetic Disease … Trimethylaminuria is a metabolic condition in which an individual is not able to …
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 …