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Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … a critical process Dr. Tifft, a geneticist at the National Human Genome Research Institute, first met Jojo in 2016. Jojo …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… million aimed at deciphering the language of how and when genes are turned on and off. These awards emanate from the … Genomics of Gene Regulation (GGR) program of the National Human Genome Research Institute (NHGRI), part of NIH. … important for defining the role of genomic differences in human health and disease." With these new grants, researchers …
Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… database to help researchers explore the locations of genes across the immense human genome sequence. Dr. Birney and his colleagues began … Project in 1999 in anticipation of the completion of the Human Genome Project.  As genes were identified, the … seen some of the possibilities of how we could analyze the human genome. I worked very closely with Michelle Clamp and …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era … a more profound understanding of the biological basis of disease will pave the way for more effective ways to … clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … variant discovery for enough different examples of disease architectures and study designs to better understand …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the …   Researchers used bioengineering to create mice with a human gene that produces the defective hemoglobin causing … "corrected" by the addition of the anti-sickling human beta-hemoglobin gene. The corrected marrow was then …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to examine the underlying genomics of many different human tissues and cells at the same time, and promises to open new avenues to the study and understanding of human biology. …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
Educational Resources
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule.
… and cell types. The RNA and protein products of many genes serve to regulate the expression of other genes. Where, when, and how much a gene is expressed can also …