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News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… that help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have … disorders generally thought to be caused by mutations in a single gene. The awards will be provided by the National … NIH … NIH funds new effort to discover genetic causes of single-gene disorders … NIH will award nearly $80 million to …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… complex that packages DNA into chromosomes in the cell - to better understand how the genome works. A better … with recent innovations in technologies to examine single cells. They labeled chromatin from thousands of cells, and isolated single cells and sequenced their DNA, creating profiles of …
Educational Resources
Haploid is the quality of a cell or organism having a single set of chromosomes.
… Haploid … Haploid is the quality of a cell or organism having a single set of chromosomes. … Haploid, Chromosomes, Sexual Reproduction … Haploid refers to the presence of a single set of chromosomes in an organism’s cells. Sexually …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… developed the breakthrough technique to return any adult cell to its earliest stage of development (a pluripotent stem cell) and change it into different types of cells in the … duplicated by subcloning. Subcloning is a technique where single cells are cultured individually and then grown into a …
Educational Resources
The plasma membrane, also called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment.
… Plasma Membrane (Cell Membrane) … The plasma membrane, also called the cell membrane, is the membrane found in all cells that separates the interior of the cell from the outside environment. … Organelle, Nuclear …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… Liaison Branch … In the largest genomics study of clear cell endometrial cancer (CCEC) tumors to date, National Human … survival rate. "Genomic mutations that contribute to clear cell endometrial cancer can vary from one patient to … commonly diagnosed gynecological cancer. Women with clear cell endometrial cancer, a rare type of endometrial cancer, …
Talking Glossary
Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell.
… are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell. … Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… that a transcription factor known as TCF1 (for T cell factor-1) is essential for the creation and persistence … TFH cells then interact with another type of white blood cell - called B cells - that actually produce the antibodies. … TCF1 deficiency causes "a severe defect" in the TFH cell response to viral infection, they concluded. "This …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully … Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over … severity of SCD symptoms. "Scientists identified sickle cell anemia in 1910, but there is still much to learn about … Normal blood cells (left) and the blood cells in Sickle cell disease, which do not flow through the circulatory …