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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 …
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 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 …
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. …
Infographic
The X chromosome is part of sexual development and many other biological processes, including how some cats get their distinctive coat colors.
…  The X chromosome plays a key function in aging. Mice with an XX genotype live longer than mice with XY, even if they have testes!   The X chromosome …
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 …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute. ​
… HF. Genetic control of X chromosome inactivation in mice: definition of the Xce candidate interval . Genetics , … influences on X chromosome choice in Xce heterozygous mice . Mamm Genome, 16(9):691-9. 2005. …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… and the fish are far less costly to maintain than are mice. They multiply astonishingly quickly; a female may … Research paper. The CRISPR/Cas9 methodology works in mice, too, but it is more costly and takes far longer. Although mice actually reach sexual maturity earlier than zebrafish, …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2021.
… or Bioengineering and Biomedical Imaging Research (R01) 27 Knockout Mouse Phenotyping Project (KOMP2) KOMP2 Program … Consortium RFA-HG-21-036 - Limited Competition: Knockout Mouse Production and Phenotyping Project (UM1) RFA-HG-21-037 - Limited Competition: Knockout Mouse Phenotyping Project Data Coordination Center …