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News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… of Health researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among … by the National Human Genome Research Institute (NHGRI) and published in the journal Cell , involved citizen science …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … study aims to learn more about the role of viral infection and biomarkers of the immune system in people with …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… Sheena Faherty, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Carolyn … to understand the function of the human genome in health and disease, and seeks technologies that facilitate genomic … are integrating information about disease-causing genomic variants and insights about genome function to generate new …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… M.D., Ph.D. … As the summer heat bears down on the country and the battle against the COVID-19 pandemic continues, I … genomics: the 30th anniversary of the launch of the Human Genome Project in October 2020. To amplify that drumbeat, the … clinical data that are currently not consistently used for disease-risk assessment (particularly when focused on …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… published in Nature today, open the door to new research and development in drugs and personalized medicine to help … and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI). Autoimmune diseases occur … people with autoimmune diseases possess unique genetic variants, but most of the alterations are found in regions of …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… healthcare provider about how to best treat your condition and avoid side effects. … Reproductive testing  is related to … for the biological father and mother to see what genetic variants they carry. The tests can help parents and … suspects, and victims of crimes and disasters. … Your genome is the operating manual containing all the …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … . …  … …  Step 3: Consent process  Read, understand and review the informed consent document . Discuss it with … your vein.) During collection, stem cells flow into a bag, and the rest of your blood returns to your body. You may …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way … describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… Polymorphism … Polymorphism involves one of two or more variants of a particular DNA sequence. … Base Pair, … of DNA. … Polymorphism involves one of two or more variants of a particular DNA sequence. … Educational Resources …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The …