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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.
… A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the … wrong in a pathway, the result can be a disease such as cancer or diabetes. … There are many types of biological … regulation of genes and in the transmission of signals. Metabolic pathways make possible the chemical reactions that …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to … acquired and accumulate over time. Some of these genomic changes drive tumor initiation, growth and metastases, while … tumorigenesis. They search for causal sequence variants in DNA from inherited cells of at-risk individuals, in human …
Talking Glossary
Un gen de susceptibilidad al cáncer es un gen que, cuando cambia (o muta) confiere a la persona un mayor riesgo de desarrollar cáncer.
… a la persona un mayor riesgo de desarrollar cáncer. … A cancer-susceptibility gene is a gene that, when changed (or … cancer. Individuals who have inherited mutations in certain cancer-susceptibility genes have a lifetime risk … the general population (e.g., BRCA1 / BRCA2 ). Individuals in the high-risk category may benefit from more frequent …
Talking Glossary
La hibridación in situ es una técnica de laboratorio empleada para localizar una secuencia de ADN o ARN en una muestra biológica.
… Hibridación in situ … La hibridación in situ es una técnica de laboratorio empleada para localizar … una secuencia de ADN o ARN en una muestra biológica. … In situ hybridization is a laboratory technique used to …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… a S.B. from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship recipient at Penn … 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 …
Educational Resources
Prostate cancer is a disease characterized by uncontrolled cell growth in the prostate gland, which is part of the male reproductive system.
… Prostate Cancer … Prostate cancer is a disease characterized by uncontrolled cell growth in the prostate gland, which is part of the male reproductive … is a disease characterized by uncontrolled cell growth in the prostate gland, which is part of the male reproductive …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… from over 10,000 tumors representing 33 types of cancer. … More than 10,000 Tumors Analyzed "This project is … understanding of how, where and why tumors arise in humans, enabling better informed clinical trials and … both part of NIH. The program, with over $300 million in total funding, involved upwards of 150 researchers at more …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial … not able to provide a "first time" diagnosis or regular metabolic care. … Once you contact our team members, you will … studies such as a DEXA or MRI scan, energy expenditure or metabolic testing, and possibly a skin biopsy (if one has not …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… will host a Town Hall at the University of Washington in Seattle, WA on June 19, 2018, and at Stanford University … the field of genomics.   …   After more than a decade, The Cancer Genome Atlas (TCGA) program is drawing to an end. A … hugely successful in its mission to catalog the genomic changes underlying multiple cancer types. Ambitious in scope …
Fact Sheets
La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar y mapear el material genético en las células de un individuo​.​ ​
… La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … hfis.jpg] ¿Qué es la HFIS? La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … … Preguntas Frecuentes … Hibridación fluorescente in situ … La hibridación fluorescente in situ brinda a los …