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Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… cells lining the airways of lungs. Researchers are now testing aerosol delivery using nebulizers. But finding the … that the child will be a carrier. The purpose of carrier testing - a laboratory test done on a sample of blood or … to conceive or whether to have a fetus tested for CF. Prenatal testing for CF can be done around the 11th week of …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… Predictive testing is for those who have a family member with a genetic … Diagnostic testing is used to confirm or rule out a suspected genetic … Pharmacogenomic testing tells you about how you will react to certain … Reproductive testing  is related to starting or growing your family. It …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … trait loci (QTL), specifically associations between known genomic variants and the level of gene expression in various … Stephanie Morris about the Institute’s new Impact of Genomic Variation on Function (IGVF) program. As featured in …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Genomic Variation … Genomic variation refers to diversity in gene frequencies. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health … Genomic variation refers to DNA sequence differences among … Genomic variation refers to diversity in gene frequencies. …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are … patients and doctors and for patient health overall. As genomic information about patients becomes more and more … EHRs. The ACMG guidance addresses topics such as: types of genomic information and data entry; data usage and access; …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn screening is testing performed on newborn babies to detect a wide variety … to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel … Newborn genetic screening is testing performed on newborn babies to detect a wide variety …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… mouse and rat April 2003 Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… associated with engaging the public about genomics and genomic medicine. Her efforts will also include working with … A global look at cancer genomes Notable accomplishments in genomic medicine Genomics Videos Eighty-eighth meeting: … in Health-Related Research Notice of Special Interest: Genomic Data Repositories (PAR-20-089) and Knowledgebases …