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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
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.
… BRCA1/BRCA2 … BRCA1 y BRCA2 son los dos primeros genes que se identificaron como asociados a tipos … genes. … BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer and ovarian cancer. People with mutations in either …
Talking Glossary
Dominant, as related to genetics, refers to the relationship between an observed trait and the two inherited versions of a gene related to that trait.
… Dominant Traits and Alleles … Dominant, as related to genetics, refers to the relationship between an observed trait and the two inherited versions of a gene related to that trait. … Dominant, as related to genetics, …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… Researchers have created a promising new method to accurately and, in some cases, more comprehensively … exome, the portion of the genome where many key cancer-related genes are located. Initially, they showed that two different …
Fact Sheets
Un ratón con genes desactivados es un ratón de laboratorio en el que los investigadores han desactivado, o "noqueado", un gen existente. ​
… Un ratón con genes desactivados [en inglés, conocidos como "ratones … y fÃsicas observables. … ¿Para qué se usan los ratones con genes desactivados? Dejar fuera la actividad de un gen ofrece … ese gen hace normalmente. Los seres humanos tienen muchos genes en común con los ratones. Por consiguiente, observar …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( lovotibeglogene … all treatments. This is a long process and it is important to understand what happens at each step. Talk with your … in a clinical trial or a treatment  If you are referred to a certain trial, you should learn about: Phases of a …
Research Training
Competitive scholarships for students from disadvantaged backgrounds to support careers in biomedical, behavioral and social science health-related research.
… Scholarship Program (UGSP) offers competitive scholarships to students from disadvantaged backgrounds that are committed … in biomedical, behavioral, and social science health-related research. … The UGSP offers scholarship support, paid … in biomedical, behavioral and social science health-related research. … NIH Undergraduate Scholarship Program, …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… X-Linked … X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome. … Chromosome, Mutation, Sex …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… Alleles in Cells program will first look at protein-coding genes … The National Institutes of Health is launching a program to better understand the function of every human gene and …  Danwei Huangfu, Ph.D. Sloan-Kettering Institute for Cancer Research, New York City Center for scalable knockout …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, … physicians, patients and other experts worked together to develop content for the Democratizing Education for Sickle … for patients and families who are considering gene therapy to understand the benefits and limitations of treatments so …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies born with WAGR … located on chromosome number 11 (11p13 - the "p13" refers to the specific place on chromosome 11 that is affected). … rate of patients with Wilms tumor is excellent and is related to the features of the tumor, and the stage of the …