Search Results
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… treatment approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial … gene had never been documented, and he was the first known human to lack this protein. So, he helped define the list of … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to examine the underlying genomics of many different human tissues and cells at the same time, and promises to … in the DNA code - control how, when and how much genes are turned on and off in different tissues, and can …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … Cyndi Tifft opened a bag and … her neurons. At the time, no one knew. Jojo inherited the genes for GM1 gangliosidosis from her mother and father. …
Educational Resources
Gene mapping is the process of establishing the locations of genes on the chromosomes.
… mapping is the process of establishing the locations of genes on the chromosomes. … Chromosomes, Linkage Analysis, … refers to the process of determining the location of genes on chromosomes. Today, the most efficient approach for … to analyze the sequence to identify the location of genes. … Gene mapping is the process of establishing the …
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … expressed overall optimism about participating in human genome editing clinical trials, but were concerned … Social and Behavioral Research Branch  of NIH's National Human Genome Research Institute (NHGRI). "This study couldn't …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of … are using advances in DNA sequencing to detect defects in genes that point to known disorders. These tools offer the …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
News Release
Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from harmful DNA viruses, strengthening the plant's protections.
… viruses. Understanding plant genomics is valuable for human nutrition and health. In addition to playing an … technologies. The recent International Summit on Human Gene Editing focused on these issues, including the … which in turn eliminated or reduced in the plant's disease symptoms. The scientists also found that the system …
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
… 1, 2020, marks the 30th anniversary of the launch of the Human Genome Project. NHGRI would like you to help us … feeling] about the launch of the Human Genome Project.  Francis Collins Eric Green  … To … When I first heard of the ambitious effort called the Human Genome Project, I was …  The Human Genome Project …