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15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… Pregnancy can be a stressful time, and for many years prenatal genetic testing has required invasive procedures … the field. Less than a decade ago, women seeking prenatal genetic testing, such as for a condition like Down … for prenatal genetic testing, at least for the initial screening test for a new pregnancy. Specifically, these new …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Jeannine Mjoseth … Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic … Bianchi, M.D., senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH's National Human …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… advances in genomic medicine, has many predicting that prenatal whole genome sequencing will be widely available in the next five years. … But before prenatal whole genome sequencing is adopted, physicians in … will be on the forefront of managing prenatal whole genome screening," Mr. Berkman said. "Our research will hopefully …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down syndrome is a genetic disease resulting from …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical … translational research focuses on two broad themes: prenatal genomics with the goal of advancing noninvasive prenatal DNA screening and diagnosis and investigating the fetal …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… that have a higher risk of specific inherited diseases. Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases. Newborn screening is used to test babies one or two days after birth … assess responses to treatments. … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic Disease … …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genetic testing is the use …
Staff
Joy Boyer is a program director in NHGRI's Division of Genomics and Society.
… programs, particularly initiatives focused on newborn and prenatal genetic screening. Currently, Joy focuses on ELSI Research Program … policy, ethical legal and social implications, newborn screening … Joy Boyer is a program director in NHGRI's …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… diseases; genomic information privacy; communication about prenatal and newborn genomic testing results; and the impact … of Utah in Salt Lake City are expanding on research on prenatal testing already supported by NHGRI. A grant for … how family members communicate about prenatal and newborn screening, including how test results and risks are …
File
… Bonds Melissa ParisiMD PhD Medical Genetics Branch: Prenatal Genomics and Therapy Section • New Lab at NHGRI • Focus on Prenatal Treatment of Down syndrome • Incidental Findings Following Prenatal DNA Screening Building Bonds Between NHGRI and NICHD • NICHD has …