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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 …
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 … entitled “From the ‘ Baldwin Effect ’ to Genes of Small Effect: Celebrating the Work of David Depew” to explore …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… muscle disorder) characterized by facial weakness, a small or retracted chin, a cleft palate and curvature of 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 …
Virtual Exhibit
The Human Genome Project changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.
… and money. Today, it remains a fact that an incredibly small percentage of the genome, only 2%, actually codes for … entity. This is in contrast to what can be called “small science,” or inquiry driven by individual … investigators, which is done in smaller labs with a small staff led by a principal investigator. Historically, …
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 …
The Genomics Landscape
In the July 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes the inaugural class of the ASHG-NHGRI Genomics and Public Service Fellowship Program.
… still uncovering new functions of this versatile class of molecules. In recent years, the genomics community has been … Amherst and will focus on synthesizing long RNA molecules using a microfluidics platform. The other project … Centers for Health (NARCH) NHGRI and NIH News How a small group of scientists and educators are enhancing the …
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… large countries (Canada and the United Kingdom) and small (Singapore, Estonia, Kuwait and Israel) were creating …