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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 … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often … by mitochondrial disease are sensitive to the effects of viral infections. As a result, children with this disease …
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. … cancers. In the study - the most extensive genomic view of ChRCC to date - investigators led by Chad Creighton, Ph.D., Baylor College of Medicine, Houston, and Kimryn Rathmell, M.D., Ph.D., …
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) is an inherited disorder of metabolism that causes an increase in the blood of a chemical … Symptoms of PKU range from mild to severe. Severe PKU is called …
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 and the medical … with little warning. There is no cure for any type of MMA, but special diets, vitamin therapies and in some …
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 … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … Symptoms of Gaucher disease vary greatly among those who have the …
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. … A mutagen is a chemical or physical agent capable of inducing changes in DNA called mutations. Examples of mutagens include tobacco products, radioactive substances, … phenomenon, such as ionizing radiation, that promotes errors in DNA replication. …
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 chromosomes instead of a pair. A structural abnormality means the chromosome's structure has been altered in one of several ways. … The body is made up of individual units called cells. Your body has many …
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. … to be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine … to make a difference in people’s lives. In my home country of Paraguay, you go from high school directly to medical …
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. … and cell biological levels involve the direct study of human subjects as well as the development and use of …