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- Ethical, Legal and Social Implications (ELSI) Research Program6
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- Genetic Architecture of Complex Traits1
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- Impact of Genomic Variation on Function (IGVF) Consortium3
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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- Multi-Omics for Health and Disease (Multi-Omics)1
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… 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 …
Event
On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of CHild Health and Human Development (NICHD) hosted a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health.
… a joint workshop  - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … 6710B Rockledge Drive … Bethesda, Maryland … Genomic Medicine for Reproductive, Prenatal and Neonatal Health … On April 16-17, 2018, the … a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … On April 16-17, 2018, the …
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 … their findings in the December 6th issue of the journal Prenatal Diagnosis . "Because there are too few genetic …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… when deciding what types of information to receive from prenatal whole genome sequencing. The study, by researchers … set of genetic instructions found in a cell. Non-invasive prenatal whole genome sequencing is not currently available … advice on the types of information to receive from prenatal whole genome sequencing. Credit: Ernesto del Aguila …
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 … Bianchi, M.D., senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH's National Human Genome …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… year to repeat your evaluation.  … A study exploring how prenatal blood test results for the baby might also detect … who:  received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an … - as some pregnant people learn NPR, December 23, 2022 Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… in advising NHGRI on research needed to evaluate and move genomics into routine medical practice. The working group … organizing genomic medicine meetings  that bring together genomics researchers, clinicians, and other experts involved … Medicine, Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing … The Genomic Medicine …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch … translational research focuses on two broad themes: prenatal genomics with the goal of advancing noninvasive …
Outreach
15 examples of how genomics has and continues to transform our world in myriad ways.
… Genomics has and continues to transform our world in myriad … Wilkins, and Leisa Zigman.  … Acknowledgements … 15 Ways Genomics Influences Our World … 15 examples of how genomics … Genomic Testing, Enhanced Forensics, Genome Editing, Prenatal Genetic Testing, Rare Genetic Diseases … 15 examples …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… ethical, legal and social questions raised by advances in genomics research and the increasing availability of genomic … 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 …