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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… know that a mutation - or alteration - in a particular gene's DNA may contribute to a certain disease. However, it … DNA sequences, which together add up to the normal gene in question, and to variants (mutations) of that gene that have been found in the human population.  … When …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… have inactivated, or "knocked out," an existing gene by replacing it or disrupting it with an artificial piece of DNA. … Knocking out the activity of a gene provides valuable clues about what that gene normally does. Humans share many genes with mice. …
For Teachers
Lesson plan based on an award-winning DNA from the Beginning website, an animated primer on the basics of DNA, genes and heredity.
… once, there could be 24 different combinations? #16. One gene makes one protein What did Archibald Garrod propose as … order of the synthesis pathway is MutC, MutA, MutE? #17. A gene is made of DNA. How did Oswald Avery show that the … transforming principal was DNA? Why did Avery identify a gene as the genetic molecule that transfers hereditary …
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… targets. Although excitement about the potential for gene therapy has grown tremendously since the discovery of … physicians might eventually be able to prescribe targeted gene therapy to make corrections to patient genomes and … reverse disease. … There are two different categories of gene therapies: germline  therapy and somatic  therapy. …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such … Kishimoto TK. ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… attempted at this time, but that studies that would make gene therapy  safe and effective should continue. 1 , 2  Most … in December 2015 with the International Summit on Human Gene Editing  in Washington, DC. For more information on this … modify DNA in the genome. Other groups also use the term "gene editing." In general, these terms are used …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Screening, Genetic Testing, Healthcare, Genetic Material, Gene Mutation, Genes … Newborn screening tests use a dried …
Policy Issues
In June 2013, the Supreme Court determined that DNA in its natural form cannot be patented.
… discoveries. Since then, the core of the debate over gene patents has been whether or not the discovery of a gene or sequence of DNA rises to the level of invention … art to which said subject matter pertains." In the case of gene patents, critics have pointed out that such patents fail …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… ago.  One of the genes on the Y chromosome is the SRY gene . The protein produced by this gene turns on a set of other genes that cause the embryo to … certain sex characteristics, such as testes. If the SRY gene doesn’t produce a functional protein, the embryo will …