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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
About NHGRI
The National Advisory Council for Human Genome Research provides expert advice on genetics, genomics research, training and programs to NHGRI and the NIH.
… regarding complex issues facing the field of genomics. … Meeting Date Date/Times Feb. 10-11, 2025 Feb. … Human Genome Research provides expert advice on genetics, genomics research, training and programs to NHGRI and the … research, training and programs to NHGRI and the NIH. … About NHGRI …
About NHGRI
There are many ways to stay connected with NHGRI and its Director, Dr. Eric Green. Below are convenient links to some of the major sites that NHGRI has developed for staying connected and learning more about genomics!
… Videos  IBB Seminar: Creating the Fourth Chapter of Human Genomics Georgia Tech October 2, 2022  At The Forefront of … has developed for staying connected and learning more about genomics! … Green Day: An Interview with NHGRI Director … has developed for staying connected and learning more about genomics! … There are many ways to stay connected with …
News Release
ENCODE program directors in the Division of Genome Sciences turned to Reddit to answer questions from the Reddit community.
… - a social news website and discussion forum - to answer questions from the Reddit community. Here, we recap the event … answered over fifty questions related to the future of genomics, the ENCODE Project, and "dark matter" DNA, among … others. For example, the ENCODE team gave their thoughts about how DNA sequencing is a powerful way to answer numerous …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
… suggests that fearful patients who received information about the role of genomics in being overweight viewed the information as … genomic or behavioral underpinnings of weight and answered questions about their intentions to alter their diets or …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… samples from people in the United States. To find out more about this laboratory, select the 'GeneTests' icon at the top … professional to contact the laboratory and learn more about the clinical diagnostic testing the laboratory offers. … Information (NCBI). The language on this page about trimethylaminuria is technical but is considered to be …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… … As researchers continue to unravel the many mysteries of genomics, they require more and more sophisticated … using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic … machine learning to make these kinds of useful predictions about rare diseases, even with such little data, it would be …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… are the signs and symptoms of porphyria? … What do we know about porphyria and heredity? … What triggers a porphyria … cutaneous porphyrias? … What are the acute porphyrias? … About Porphyria … The porphyrias are a group of different …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… being diagnosed now with an autism spectrum disorder, about half will have intellectual disabilities defined by … children show signs of autism in the first year of life, about 30 percent will seem fine and then regress in both … and social interactions at around 18 months of age. About 30 percent of children with autism have physical signs …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… of blood is drawn from the arm. Both of these tests are about 85 percent accurate. They may miss people who have the … HGARD: Hemachromatosis type 1 … What do we know about hereditary hemochromatosis? … Is there treatment for … … Is there a test for hereditary hemochromatosis? … About Hemochromatosis … Hereditary hemochromatosis is a …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… assumed. Additional Resources for Holoprosencephaly About Holoprosencephaly NINDS Holoprosencephaly Information … GARD: Holoprosencephaly … What do we know about holoprosencephaly? … Is there a test for … for holoprosencephaly? … What is the prognosis? … About Holoprosencephaly … Holoprosencephaly is a disorder …