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News Release
Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from harmful DNA viruses, strengthening the plant's protections.
… Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from … use in many organisms, and this latest iteration develops gene-editing for use in plants. … technologies. The recent International Summit on Human Gene Editing focused on these issues, including the concern …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… of lab results with uncertain findings about whether a gene or variant is disease-causing," said Jonathan Berg, … basic questions: Is there a true relationship between a gene and disease? Does the genetic variant in a gene cause or … as BRCA1 and BRCA2, scientists have strong evidence that mutations dramatically raise the risk for breast and ovarian …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… Sex linked is a trait in which a gene is located on a sex chromosome. … Cell, Mutation, Gene, Sex Chromosome … Sex linked is a trait in which a gene is located on a sex chromosome. …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… Health (NIH) have successfully identified differences in gene activity in the brains of people with attention deficit … how specific genes are turned on or off, also known as gene expression . They studied two connected brain regions … inch closer to understanding how genomic differences alter gene expression in the brain and contribute to ADHD symptoms. …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… were available for molecular testing, half had BRAF V600E gene mutations, which is sometimes seen in colon cancer, lung … brain tumors and some blood cancers. Other patients had mutations in genes of the MAPK pathway, which controls cell … Residency Program, accumulation of histocytes, new gene discovery …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… then analyzed the data to find "putative," or presumed, mutations that would almost certainly lead to a genetic … setting. Once they identified participants with genomic mutations, researchers called them back to the clinic to give … nearly all harmless - and studied only potentially harmful mutations that were found in about 100 of the 951 …
Educational Resources
Recessive Traits and Alleles is a quality found in the relationship between two versions of a gene.
… found in the relationship between two versions of a gene. … Gene, Genotype, Inherited, Mutation, Phenotype, Allele, … an observed trait and the two inherited versions of a gene related to that trait. Individuals inherit two versions of each gene, known as alleles, from each parent. In the case of a …
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 … there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … Step 2: Eligibility Your eligibility to participate in a gene therapy may depend on: Your age. Your diagnosis of …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Study used a “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… disease is an inherited disorder caused by a change in the gene that produces hemoglobin, the red blood cells that carry … the U.S. Food and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership …