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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 … However, when one of Emily’s relatives underwent genetic testing for an unrelated condition, they were told that they … signs and symptoms. In Canada where Emily lives, genetic testing to diagnose such a condition is not part of standard …
Educational Resources
A lymphocyte is a type of white blood cell that is part of the immune system.
… A lymphocyte is a type of white blood cell that is part of the immune system. … Lymphocytes, White Blood Cell, Immune System … A lymphocyte is a type of white blood cell that is part of the immune system. There are two …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn screening is testing performed on newborn babies to detect a wide variety … to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel prick when the baby is two … Newborn genetic screening is testing performed on newborn babies to detect a wide variety …
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
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. …
Educational Resources
Southern blotting is a laboratory technique used to detect a specific DNA sequence in a blood or tissue sample.
… technique used to detect a specific DNA sequence in a blood or tissue sample. … purified DNA from a biological sample (such as blood or tissue) is digested with a restriction enzyme(s), … technique used to detect a specific DNA sequence in a blood or tissue sample. …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… the severity of the disease. Learn more about your red blood cells to help you better understand these various … Types of treatments A variety of approaches target the blood stem cells to reduce your symptoms of sickle cell … aim to decrease the amount of hemoglobin S in your red blood cells. If they successfully decrease the hemoglobin S, …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… known as having sickle cell trait , increases the risk of blood clots, a risk that is the same among diverse human … with sickle cell trait.  The study, published in Blood Advances , was led by researchers at National Human … the relationship between sickle cell trait and blood clots have only included individuals of African genetic …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… the origin of the mutation that causes sickling of red blood cells, which reduces their ability to carry oxygen and … the origin of the mutation that causes "sickling" of red blood cells. ​ … the origin of the mutation that causes "sickling" of red blood cells. …