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The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… genome sequencing began to ramp up, it was decided that a small group of leaders from the largest genome-sequencing … research involving recombinant or synthetic nucleic acid molecules Funding Opportunities SBIR/STTR Commercialization … allowed and clinical trial required NIH, CDC and FDA for small business innovation research grant applications NIH and …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… EGFR gene explain the dramatic clinical responses of non-small cell lung cancer patients to gefitinib, a small molecule inhibitor of EGFR. Upon joining NHGRI in 2006, … in EGFR explain the dramatic clinical responses of non-small cell lung cancer patients to gefitinib, a small …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… gene makes an important enzyme that helps to break down molecules within cells. Without a functioning version of the GLB1 gene, molecules accumulate and wreak havoc on the cells of the … in the patient’s DNA. Each rare disorder affects a small population, but when considered together, they affect …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… to analyze the consequences of perturbing agents (e.g., small molecules, genetic alterations, antibodies, and … 3 million profiles, with information about over 40,000 small molecules and genetic-perturbing agents, over 1,100 …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… hemodialysis," Dr. Gahl said. In Gaucher's disease, the small molecule NCGC607 chaperones mutated protein to the …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
… now have technology that uses light emitted from glowing molecules to figure out the correct order of a DNA sequence, … years Principal investigator: Stuart Lindsay, Ph.D. Two small business grants were awarded to the following: …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… disease often have increased levels of alpha-synuclein, a small protein with a tendency to clump that can affect the …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
… " amplify " the DNA in the sample - that means they copy small parts of the sample to reach high enough levels for … step makes it possible to do DNA testing from very small starting amounts, like those in forensic samples or …
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.
… behavior, in how cells respond to being exposed to various small molecules, genetic perturbations or genetic changes," said … and finding common responses to other known toxic molecules." A major challenge that will be addressed in the …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… receptors (TCR) on T cells. Together with costimulatory molecules, these receptors initiate signal transduction … the Schwartzberg group has been studying T cell signaling molecules affected by primary immunodeficiencies, including … of cases of XLP are caused by mutations affecting a small adaptor molecule, SAP that binds to members of the SLAM …