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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.
… disease.  All the best,  … Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant …
News Release
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
… facilitates cell growth and division, and the increased expression of JAK2 may inappropriately activate cell growth. … PD-L2, which suppress immune responses; their increased expression may help tumors escape destruction by the immune … process of adding methyl groups to DNA, which reduces gene expression. Hypermethylation occurs when this mechanism …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… genomic and social determinants; their effects on gene expression; as well as their contribution to health … cardiovascular disease morbidity and mortality and on gene expression among disproportionately affected subpopulations. …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… modeling studies demonstrated that neuronal-targeted expression of NPC1 rescued neurodegenerative disease, … arrest and senescence, suggesting maintenance of SOX10 expression is important for melanoma progression. These … also evaluate the effects these gene mutants have on other tissue types. Together, these studies will increase …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… the cellular receptor for SARS-CoV-2. In the edited mice, expression patterns of ACE2 were similar to those in humans …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… Network for Systematic Analysis of Pancreatic Islet RNA Expression (InsPIRE) consortium. In addition, he is a … of T2D. Dr. Erdos is the lead scientist in the FUSION tissue biopsy project which aims to investigate tissue … cell state and functional consequence are integrated with genotype and polygenic risk to investigate the functional …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… RNA molecules involved in the regulation of gene expression. When the AAV was inserted near Mir341 , the vector caused elevated expression of the gene, which the researchers believe … that vector did not insert where it would elevate the expression of nearby genes and it did not cause liver cancer. …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… of data analyses, such as investigating gene and protein expression profiles, and associating them with clinical and … a result that adds to our understanding of how tumor tissue of origin influences a cancer's features and could … underlying genome and epigenome on gene and protein expression; and the interplay of tumor and immune cells. …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… that decreased levels of the MITF gene. Decreasing the expression of the MITF gene in the mutant mice increased the … interferon signature. The other mouse model had increased expression of the SOX10 gene, which regulates MITF activity …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
…  Develops and maintains banks of normal and tumor tissue (consisting of both germline and tumor DNA) for a … using whole-exome and whole-genome sequencing approaches, expression profiling methodologies (such as RNA-seq), and … microarray core that performs association and expression studies. In summary, the scientists of the Cancer …