Search Results
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 …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… National Institute on Aging; the National Heart, Lung and Blood Institute; and the National Institute on Minority … Type 2 diabetes, diabetes, genetics and diabetes, blood sugar testing, genetic risk, Francis Collins research …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 … oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening. … her pregnancy, she had a check-up appointment and took a blood test to screen for possible chromosomal abnormalities … Prenatal blood tests, known as non-invasive prenatal testing, entered …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … thrombophilia, or an increased tendency to form abnormal blood clots in blood vessels. People who have the factor V Leiden mutation … has, the presence of other gene alterations related to blood clotting, and circumstantial risk factors, such as …
Fact Sheet
Learn about the different types of hemoglobin.
… disease and gene therapy , you should first know about blood cells and the different types of hemoglobin that make up red blood cells. … Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin , a protein that carries oxygen. Red blood cells need hemoglobin to deliver oxygen to your body’s …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves analyzing free … Cell-free DNA testing is a laboratory method that involves analyzing free … or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used during pregnancy that …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… an unborn baby using a small sample of a pregnant mother's blood? Pregnancy can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with associated … of fetal DNA that naturally circulates in the mother's blood during pregnancy. Pregnant women now have the option of …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Hemophilia is a bleeding disorder that slows down the blood clotting process. … People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who … Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.