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FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … mitochondrial disease, COVID-19, COVID-19 vaccine, inborn errors of metabolism, organ dysfunction, tissue death, MINI …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… The Cancer Genome Atlas (TCGA) Network have made a number of new findings about the biology and development of a rare form of kidney cancer. … They found that the disease - chromophobe …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. … Phenylketonuria (PKU) …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with … related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders … C.P. (February 2008) Disorders of Intracellular Cobalamin Metabolism. GeneReviews at GeneTests: Medical Genetics …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately …
Educational Resources
A mutagen is a chemical or physical phenomenon, such as ionizing radiation, that promotes errors in DNA replication.
… phenomenon, such as ionizing radiation, that promotes errors in DNA replication. … Mutagen, DNA Mutation, DNA … Cancer … A mutagen is a chemical or physical agent capable of inducing changes in DNA called mutations. Examples of … phenomenon, such as ionizing radiation, that promotes errors in DNA replication. … Educational Resources …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the challenges of skeletal genomics. … Soo: What was your path to becoming a … molecules and pathways that influence skeletal growth and metabolism in general,” he said. In a conversation with …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… abnormality mean an individual is either missing one of the chromosomes from a pair or has more than two … is supposed to end up in the resulting cells. However, errors in cell division can result in cells with too few or too many copies of a chromosome. Errors can also occur when the chromosomes are being …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators … focus on human genetics, vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects …