Search Results
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… Human Genome Research Institute (NHGRI) hosted the Knockout Mouse Phenotyping Program (KOMP2) and International …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… development. Model systems, including genetically altered mice and in vitro cell and organ culture systems, are major …
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 , …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… place in the petri dish and in nonhuman organisms such as mice or zebrafish. Researchers rely on genome editing tools … A typical study might be to model human disease in mice by deleting or editing certain genes that are thought to …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… et al., Cell 1996). Using the Cbfb-MYH11 knock-in mice (in which human MYH11 was inserted into mouse Cbfb to … by microarray analysis with cells from Cbfb-MYH11 knock-in mice, and identified leukemia-initiating cells using these … of leukemia progression in the Cbfb-MYH11 knockin mice by single cell RNA sequencing. Leukemia . 2023 …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… acid metabolism in model organisms, including roundworms, mice and zebrafish. Using a translational research approach, … all the studies are striking: while the untreated Mut-/- mice uniformly perish in early life, the Mut-/- mice that receive AAV gene therapy with any of the section's …
Staff
Darryl Leja is a senior graphic designer, illustrator and visual information specialist within NHGRI's Office of Communications.
… entitled "Training in Basic Biomethodology for Laboratory Mice," DNA Day, the Genome Unlocking Life’s Code Exhibit on …
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 2022.
… Emphasis Overview Scientific Areas of Emphasis Search 31 Knockout Mouse Phenotyping Project (KOMP2) KOMP2 Program … Phenotyping Consortium Website Fell et al. – “NIH Renews Knockout Mouse Project for 3rd Time” 32 Human Heredity & …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
… that affect humans. They edit the genomes of animals, like mice and zebrafish, because animals have many of the same genes as humans. For example, mice and humans share about 85 percent of their genes! By …
Staff
Dr. Sharon Milgram is an adjunct investigator in the Genetics and Molecular Biology Branch at the National Human Genome Research Institute.
… biochemical assays to physiological assays in knock-out mice. … chorioallantoic fusion, and embryonic axis elongation in mice with targeted disruption of Yap65. Mol Cell Biol , …