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News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria,  a … this mutation might affect progeria-like symptoms in mice. "The toll of this devastating illness on affected … injection of the DNA-editing mix into nearly a dozen mice with the progeria-causing mutation soon after birth. The …
News Release
NIH scientists proposed a new approach for finding ways to impede or halt cancer's spread: transgenic zebrafish as a live animal model of metastasis.
… of times more quickly than mammalian models such as mice (although not nearly so fast as flies). It can be made … implanted aggressively metastasizing human cancer cells in mice, and then treated the mice with an inhibitor that had seemed most effective in …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… that AAV vectors can cause insertional mutagenesis in mice treated as neonates and that this toxicity is … cause of upregulation of oncogenes and tumorigenesis in mice treated with AAV. Importantly, his AAV integration … pathophysiology. He was the first to demonstrate that mice and patients with MMA both have a tissue-specific …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… mouse model. Scientists often use different strains of mice as animal models to study human diseases because most genes in humans have similar counterparts in mice. “A mouse model that more precisely captures the … a byproduct of how the model was developed. Humans and mice have very similar genomes, but the chromosomes that make …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… promise.     Researchers used bioengineering to create mice with a human gene that produces the defective hemoglobin … the defective hemoglobin gene was removed from the mice and genetically "corrected" by the addition of the … The corrected marrow was then transplanted into other mice with sickle cell disease. The genetically corrected mice …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… phenotypes. For example, studies of a glucocerebrosidase-knockout mouse led to the recognition of a perinatal lethal … Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course. Mol Genet Metab , …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… muscle endurance by reducing pain. In a previous study in mice, researchers discovered that the ASIC3 gene is linked to … gene, which have been linked to hearing impairment in mice and humans, were significantly more common in sport … behaviors, hyperactivity and panic responses in mice ( SHANK2 and OXR1 genes) were also more prevalent in …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… Genetic Disease Research Branch. "If we knock it out in mice, we don't get the T follicular helper cells, or very … after experiment, both in vitro and using transgenic mice infected with lymphocytic choriomeningitis virus (LCMV), … cells. When the researchers bred genetically engineered mice suppressing the gene that codes for TCF1, the number of …
News Release
NHGRI has selected Sara Chandros Hull, Ph.D., and Shawn Burgess, Ph.D., as deputy scientific directors of NHGRI’s Intramural Research Program.
… zebrafish genome by developing and using efficient gene-knockout technologies to understand the genomic basis of …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… nearly 6,000 experiments –– 4,834 in humans and 1,158 in mice –– to illuminate details of the genes and their … biochemical changes that occur during mouse development. Mice, due to their genomic and biological similarity to … human biology and disease. These experiments in humans and mice were carried out in several biological contexts. …