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Talking Glossary
Un carcinógeno es una sustancia, organismo o agente capaz de causar cáncer.
Talking Glossary
BRCA1 y BRCA2 son los dos primeros genes que se identificaron como asociados a tipos hereditarios del cáncer de mama y de ovario. Las personas con mutaciones en BRCA1 o BRCA2 tienen un riesgo mucho más alto de desarrollar cáncer de mama, de ovario u otros tipos de cáncer en comparación con las personas que no tienen mutaciones en estos genes.
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 convert trimethylamine … but has only gained scientific recognition and support in the past 30 years. … Trimethylamine builds up in the body of patients with trimethylaminuria. The trimethylamine gets released in the person's sweat, urine, reproductive fluids, and …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… expertise and resources, enabling a champion-driven effort in early-stage translation. Prior to the formation of NCATS, in 2004 Inglese co-founded the NIH Chemical Genomics Center … acting as its deputy director. Inglese received his Ph.D. in organic chemistry from Pennsylvania State University, …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
… pair causes the substitution of a different amino acid in the resulting protein. … A missense mutation is a DNA change that results in different amino acids being encoded at a particular position in the resulting protein. Some missense mutations alter the … pair causes the substitution of a different amino acid in the resulting protein. …
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.
… Media Availability In the largest study of its kind to date, researchers have … children, parents and unrelated people. They identified changes in 107 genes that are likely to contribute to the risk for … a better understanding of some of the genetic and cellular changes in pathways and processes thought to be involved in …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products … A major focus of the branch's research lies in understanding how disruptions in signaling pathways and transcription factors contribute to …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… Hospital and went on to the University of California in San Diego to complete her medical genetics and genomics … subsequently moved to Bethesda to complete her training in Medical Biochemical Genetics, at NHGRI. Following this, … Charles Venditti’s Organic Acid Research Section in the Metabolic Medicine Branch at NHGRI. …
Talking Glossary
Un oncogén es un gen que sufrió una mutación y que tiene el potencial de causar cáncer.