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Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
… in the sample to be detected. … How does COVID-19 PCR testing work? COVID-19 testing uses a modified version of PCR called quantitative … amount of genetic material from SARS-CoV-2. …  …   The testing process begins when healthcare workers collect …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… causes low levels of, or no, alpha-1 antitrypsin in the blood. … Alpha-1 antitrypsin deficiency (AATD) is an … low levels of, or no, alpha-1 antitrypsin (AAT) in the blood. AATD occurs in approximately 1 in 2,500 individuals. … Alpha-1 antitrypsin deficiency (AATD) is diagnosed through testing of a blood sample, when a person is suspected of …
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 … Hemophilia is … affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located on the X …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … 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 …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… know that we are increasingly able to detect cancers by testing just a blood sample? Or that we are moving toward treating cancers … and experienced them himself. Lukas was diagnosed with a blood cancer called acute lymphoblastic leukemia (or ALL) in …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… advance, the researchers hope to spur development of a blood test that can be used to diagnose a variety of cancers … in developing a test to identify early cancers through a blood test." The NIH Intramural Sequencing Center sequenced … when a cure is more likely. We are looking forward to testing Dr. Elnitski's novel approach using DNA methylation …
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. … Northern Blot, Laboratory … 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 …
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. … Deoxyribonucleic Acid (DNA), … 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. … Educational Resources …
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, …
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 …