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Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
… to explore the implications, challenges and opportunities associated with the possible use of genomic sequence … explores the implications, challenges and opportunities associated with the possible use of genomic sequence … explores the implications, challenges and opportunities associated with the possible use of genomic sequence …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… Leja, NHGRI.  Dr. Bell and her team isolated DNA from tumor cells and from normal cells from patients with CCEC. Their goal was to identify genetic mutations in CCEC tumor cells that are absent from normal cells. The team … implicated in CCEC. TAF1 encodes part of a transcription factor complex, which regulates the expression of other genes …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… are located. Initially, they showed that two different tumor sample storage methods produced comparable DNA … and spoke to experts to develop a database of 121 tumor genomic alterations that could have therapeutic, … interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nature …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… Age: A man's age is the strongest risk factor for prostate cancer. It is rare for a man to develop … Environmental Factors: Environmental risk factors are associated with developing prostate cancer. These are: … is slow. Surgery may be another treatment used if the tumor has not spread to other parts of the body and the man …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… are driven primarily by mutations in one of two cancer-associated genes: BRAF (and a particular mutation, V600E ) or … types, particularly in signaling pathways that promote tumor development and growth. The researchers developed a … to characterize tumors and determine both the pathway a tumor uses to send signals and its relative aggressiveness. …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… Institutes of Health researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice … who have designed gene therapies using an adeno-associated virus (AAV) as a vector to deliver the corrected …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… transcript isoform frameworks and their application to tumor stratification, linking splicing alterations to … a chromatin structure that protects the estrogen receptor (ERα) from therapeutic degradation. Targeting … super-silencer structures, expanding understanding of tumor-suppressive gene regulation and informing potential …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… (RA); systemic lupus erythematosus (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.