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Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… … Dr. Tifft is a senior clinician at the National Human Genome Research Institute where she serves as deputy … pathogenesis of LSDs, the Proia/Tifft team have generated induced pluripotent stem (iPS) cells from a patient with infantile …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… for many years (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical … paid to understanding the underlying costs of generating a human genome sequence. Accurately determining the cost for sequencing a given genome (e.g., a human genome) is not simple. There are many parameters to …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
… 8,500 knockouts of mouse genes, in the form of embryonic stem (ES) cells. He is now working to implement The Knockout Mouse … by multiple Institutes. Prior to joining the National Human Genome Research Institute (NHGRI), Dr. Fletcher was a …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… to six research institutions to create a database of human cellular responses, the Library of Integrated … computer algorithms to detect and analyze perturbations induced by therapeutic drugs in healthy and diseased human … signatures, using human heart, liver and nerve cells from stem cells that have been derived from human skin cells. Such …
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
… Human Genome Project … The Human Genome Project was an international project that mapped and sequenced the entire human genome. … Human Genome Project, Francis Collins, DNA, …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… Genomics is illuminating human and family origins at a level not previously possible. … your ancestors, both near and distant? Advances since the Human Genome Project allow us to compare genome sequences … among the most common questions that humans ponder. The Human Genome Project produced a reference human genome …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… Hemoglobin types and sickle cell disease Your red blood cells contain hemoglobin , a protein that carries oxygen. Red … types of hemoglobin that make up red blood cells. … Blood stem cells (also called hematopoietic stem cells) are cells that can develop into any type of blood …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… disease are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National … the disease comes from the “sickle” shape of the red blood cells that form in patients with the disorder. Red blood cells contain the protein hemoglobin, which carries oxygen in …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… 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 … is caused by a single gene mutation that causes red blood cells to take on an unusual sickle shape. People affected by …