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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 …
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? … repeat your evaluation.  … A study exploring how prenatal blood test results for the baby might also detect cancer in …
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 …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… - are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology through new … remain in terms of containing costs and achieving a high quality of DNA sequencing data." This group of awards is … fabrication methods with biological nanopores to enable high-throughput sequencing. The latter refers to a very high …
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. ​ … Sickle allele, Sickle cell disease, Center … the origin of the mutation that causes "sickling" of red blood cells. … News Release …
About NHGRI
NHGRI's leadership team has prioritized initiatives to stimulate and achieve highly impactful progress in genomics that will benefit the efforts of others.
… led to advances that today are enabling some of the most high-profile initiatives in biomedical research. In keeping …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.