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A birth defect is an abnormality present at birth.
… at birth. Birth defects can be caused by genetic factors, prenatal events during pregnancy or a combination of both. …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… Enlargement of the baby's kidneys may be seen on a prenatal ultrasound. The eye problems (aniridia) are usually …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… testing, such as for cancer [see Cancer Genomics ] and prenatal screening [see NIPT ] in which a healthcare provider orders …
Event
Opening remarks from Eric Green, Christopher Donohue and Michael Rembis.
… are ever-present, where, for example, omnipresent prenatal screening and diagnosis as well as emerging gene-editing … or cultural constraints, but simply availability of screening technologies. As others will no doubt emphasize …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical … coverage, and data integration in a diverse population. Prenatal and pediatric undiagnosed developmental disorders … of research results from samples obtained for newborn screening R21 University of California, San Francisco Gloria …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… tissues from rhesus macaques and common marmosets across prenatal and postnatal developmental stages. This project …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… decisions about testing. Prospective parents consider prenatal testing when one parent has been diagnosed with … Huntington's disease or has been found to carry the gene. Prenatal testing can show whether the child will inherit the …
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.
… with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… events in brain development have crossed from the prenatal to the postnatal period. These developmental events …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2023.
… (R21) 27 Genomic Medicine XV: Genomics and Population Screening Genomic Medicine Working Group Genomic Medicine XV … Sequencing" Turriff et al. – "Patients' Perspectives on Prenatal Screening Results that Suggest Maternal Cancer: A Qualitative …