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Policies and Guidance
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Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, Mosaic Down …
Educational Resources
A proband is an individual being studied or reported on.
… reported on. … Birth Defect, Inherited, Carrier, Carrier Screening, Genetic Testing, Genetic Counseling, Pedigree, …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… information privacy; communication about prenatal and newborn genomic testing results; and the impact of genomics … to study how family members communicate about prenatal and newborn screening, including how test results and risks are …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… two new research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … addition to two DNA sequencing centers, a Model Organisms Screening Center, a Metabolomics Core, a central … diseases at the NIH Clinical Center. Model Organisms Screening Center At the Model Organisms Screening Center, …
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.
… 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 … San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable Disorders Not Amenable to …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… United States, PKU occurs in 1 in 10,000 to 1 in 15,000 newborn babies. Newborn screening has been used to detect PKU since the 1960's. As a …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… year is born with MMA, which is now detected by routine newborn screening. Despite current treatments, the disorder can cause … of the coauthors of the new studies. Even today, when a newborn screening test indicates that a baby has MMA "it is a …
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
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… Health cooperative research grant titled, "Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening." She directed policy responses to …