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… GMXV - Genomic Sequencing in Public Health Newborn Screening — Hopes and Challenges (Robert Currier) …
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… residual de-identified blood spots taken as part of the newborn screening public health program to conduct epidemiological, … for the research use of de-identified blood spots from newborn screening. Revisions to the Common Rule in 2018 …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… nerve cells. Dr. Tifft is also working to improve genetic screening tests for newborns. Current genetic screening programs detect up to around 70 conditions, … — like GM1 gangliosidosis — are not included in the screening process. With an earlier diagnosis and new …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… in a Caucasian male: Jeff with wife Maria Colon cancer screening in a Hispanic male: Luis Familial adenomatous … polyposis testing in an Ashkenazi Jewish male: Gabe Cancer screening incidental findings in an African American male … an adult Puerto Rican female: Peggy  Reproductive Issues: Newborn screening in an older pregnant Asian female: Dai …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… convene an expert panel entitled "Does genetic and genomic screening keep open the door to eugenics?" on May 25 to … scientific racism in the context of genetic and genomic screening technologies. Emerging genome-sequencing … diagnosis, noninvasive prenatal genetic testing, and newborn DNA sequencing in the context of eugenics and …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… rare diseases. Other researchers are studying its use in screening newborns for disease and disease risk. Moreover, …
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.
… The eye problems (aniridia) are usually noticed in the newborn period, and for infant boys, the problems with the … and urinary systems are also usually obvious in the newborn period. Individuals born with WAGR syndrome are at …
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 2019.
… Exploratory Research (CSER) Consortium Studies 22 Newborn Sequencing In Genomic Medicine and Public HealTh …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… born in the United States are diagnosed with MMA during newborn screenings. Currently, MMA is incurable, but people …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… and Public Liaison Branch … From prenatal genetic screening to the genetic testing of women with family …