Search Results
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. …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… this hypothesis, the researchers genetically engineered mice with FMF-causing genomic variants. They infected both healthy and genetically engineered mice with Yersinia pestis . Their results showed that infected mice with the FMF-causing genomic variant had significantly …
Research Funding
Expired Funding Opportunity Announcements dating back to 1994, including Requests for Application, Program Announcements and Notices.
… Trial Not Allowed) RFA-HG-21-036 : Limited Competition: Knockout Mouse Production and Phenotyping Project (UM1) … Health (R01) PAR-13-231 : Phenotyping Embryonic Lethal Knockout Mice (R01) RFA-ES-16-003 : K22 BD2K Mentored Career …