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Educational Resources
A birth defect is an abnormality present at birth.
… … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital defect) is …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor … an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to …
Educational Resources
DNA fingerprinting is a laboratory technique used to establish a link between biological evidence and a suspect in a criminal investigation.
… investigations, other forensic purposes and paternity testing. In these situations, one aims to “match” two DNA …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… medical, social and ethical decisions surrounding genetic testing. Provide support and information to help a person make a decision about testing. Interpret the results of genetic tests and medical … a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… consider having an abortion regardless of what the testing indicated. Women who identified as Hispanic or Latina … whole genome sequencing. … non-invasive prenatal testing, Benjamin E. Berkman, genetic counseling … Most …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to …
Social Media
NHGRI launched a Reddit Science "Ask Me Anything" series to share our genomics expertise with the public through online question and answer sessions.
… … Reddit, Ask Me Anything, AMA, CRISPR, Genetic Testing … NHGRI launched a Reddit Science "Ask Me Anything" …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… work, the country of Thailand has implemented genomic testing before these medications are prescribed. The results … (more commonly known as Plavix). This medication is a "blood thinner" which helps prevent blood clots, and thus reduces your risk of strokes or some …
News Release
My Family Health Portrait is a downloadable tool to complete a family health history on a personal computer.
… and other partners. … family health history, genetic testing, ancestry, CDC , Surgeon General … My Family Health …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… privacy; communication about prenatal and newborn genomic testing results; and the impact of genomics in American … in Salt Lake City are expanding on research on prenatal testing already supported by NHGRI. A grant for $3,881,732 … and Social Implications Research, CEER, prenatal genomic testing, newborn genomic testing, Joy Boyer, Lawarence Brody …