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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. … Missense Mutation, DNA Mutation, … … 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 …
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.
… Steven Benowitz … 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 … 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 … disease. … A major focus of the branch's research lies in understanding how disruptions in signaling pathways and … Research Branch … NHGRI branch studying how genetic changes affect the structure and function of gene products …
Talking Glossary
Un carcinógeno es una sustancia, organismo o agente capaz de causar cáncer.
… is a substance, organism or agent capable of causing cancer. Carcinogens may occur naturally in the environment (such as ultraviolet rays in sunlight and certain viruses) or may be generated by …
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, … … Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch. … James Inglese, high-throughput … … Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch. … Staff …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… editing center around human germline because editing changes made in the germline would be passed down to future generations. … … genome editing center on human germline editing because changes made in the germline are passed down to future …
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 … Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. Not all of the functions of the …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… set of analyses from the GTEx Consortium were published in Science .  The latest GTEx data release represents the … a resource that researchers can use to study how inherited changes in genes lead to common diseases. It will establish a … and organs are collected and stored through the National Cancer Institute's cancer Human Biobank initiative on behalf …
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.
… found to be associated with inherited forms of breast cancer and ovarian cancer. People with mutations in either BRCA1 or BRCA2 have a much higher risk for … or other types of cancer than those without mutations in the genes. Both BRCA1 and BRCA2 normally act as tumor …
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 … Charles Venditti’s Organic Acid Research Section in the Metabolic Medicine Branch at NHGRI. … Dr. Galarreta’s … pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch. … Dr. Galarreta is a …