Search Results
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 …
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 …
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 …
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 …
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 …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or …
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.
… (such as adolescents) or a type of counseling (such as prenatal). … Your health care provider may refer you to a …
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 …
For Health Professionals
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) aims to improve genomic literacy of healthcare providers and enhance the effective practice of genomics-informed healthcare by facilitating interactions among the key stakeholders in genomics education.
… Education Exercises Clinical Decision-Making in the Prenatal Setting  Direct-to-Consumer Genetic Testing FAQ for …
Staff
Mr. Benjamin Berkman is the deputy director of NHGRI's Bioethics Core.
… BB, Hull SC, Berkman BE. Views of Pregnant Women on Prenatal Genome Sequencing . Obstetrics and Gynecology, …