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News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… ago, Emily* discovered that she had fewer platelets in her blood than most people. Platelets, sticky disc-shaped pieces of cells, form clots to stop bleeding and help wounds heal.   … all types of blood cells, such as red blood cells, white blood cells and platelets.   Variants in the RUNX1 …
Educational Resources
Mitosis is a cellular process that replicates chromosomes and produces two identical nuclei in preparation for cell division.
… by equal division of the cell’s content into two daughter cells that have identical genomes. …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
Educational Resources
Endoplasmic reticulum is a network of membranes inside a cell through which proteins and other molecules move.
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… ask you to share your medical records and will send you a blood collection kit so that you can mail us some blood samples.   How often will I have to come to the NIH? … A study exploring how prenatal blood test results for the baby might also detect cancer in …
Educational Resources
Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting.
… affecting males, that is characterized by a deficiency in blood clotting. … Hemophilia, Blood Clotting, X Chromosome, Gene, Mutation … affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located on the X …
Educational Resources
A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing organisms to pass on genes from generation to generation.
… A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing … Germ line refers to the sex cells (eggs and sperm) that sexually reproducing organisms … to the next (parents to offspring). Egg and sperm cells are called germ cells, in contrast to the other cells …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… Expired Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers … November 2, 2022 Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase 1: Data Production Research and … November 2, 2021 Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase 1: Data Analysis and Validation Centers …
The Genomics Landscape
In the May 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. notes that a number of individuals with strong ties to NHGRI have been nominated and/or appointed to serve on the White House Science Team.
… NHGRI have been nominated and/or appointed to serve on the White House Science Team. Francis Collins, M.D., Ph.D., will … as President Biden’s science advisor and director of the White House Office of Science and Technology Policy (OSTP). … NHGRI have been nominated and/or appointed to serve on the White House Science Team. …
Educational Resources
Northern blot is a laboratory technique used to detect a specific RNA sequence in a blood or tissue sample.
… technique used to detect a specific RNA sequence in a blood or tissue sample. … purified RNA fragments from a biological sample (such as blood or tissue) are separated by using an electric current … technique used to detect a specific RNA sequence in a blood or tissue sample. …