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To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since … of Health has devised new ways to improve a genetic testing method called a polygenic risk score. … To prevent an … of Health has devised new ways to improve a genetic testing method called a polygenic risk score. … News …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The … investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system. … Immune system regulation, genomic switches in blood cells, autoimmune disorders, John O'shea M.D., Golnaz …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… be at risk for passing it on to their children. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … Carrier screening involves testing to see if a person “carries” a genetic variation …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. … Phenylketonuria … disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine … … PKU is usually diagnosed through newborn screening testing that is done shortly after birth on a blood sample …
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 … turns genes on and off. It also helps stem cells in the blood, known as hematopoietic stem cells, develop and …
Educational Resources
A phenotype is an individual's observable traits, such as height, eye color, and blood type.
… observable traits, such as height, eye color, and blood type. … Gene, Heterozygous, Homozygous, Allele, Trait, … observable traits, such as height, eye color and blood type. A person’s phenotype is determined by both their … observable traits, such as height, eye color, and blood type. … Educational Resources …
Educational Resources
A lymphocyte is a type of white blood cell that is part of the immune system.
… Lymphocyte … 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 …
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
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 …