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… 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 …
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). …
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 …
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 …
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 …
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, …
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… opt-in consent for use of biosamples in population level screening programs such as newborn screening. Most hospitals … Congress on Behalf on HR 3441, the "Accurate Education for Prenatal Screenings ActÓ In our last Report to Council we described how ACMGÕs 2013 Statement on Noninvasive Prenatal Screening (NIPS) for Fetal Aneuploidy came to the …
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… function using bulk and single-cell CRISPR-interference screening and base editing.  Thouis Ray Jones, Broad …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Facilitating the Implementation of Population-wide Genomic Screening across Diverse Populations and Settings (FOCUS) … of North Carolina at Chapel Hill Age-Based Genomic Screening in Newborns, Infants and Children: A Novel Paradigm … of Emerging Genomic Tests for Disease Management and Screening Marc S. Williams Geisinger Clinic Real-Time Genetic …