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Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
… forms of breast cancer and ovarian cancer. People with mutations in either BRCA1 or BRCA2 have a much higher risk … ovarian or other types of cancer than those without mutations in the genes. Both BRCA1 and BRCA2 normally act as …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… Genome Atlas (TCGA) Research Network have identified novel mutations in a well-known cancer-causing pathway in lung … initial scan of tumor samples, researchers identified gene mutations that would increase RTK/RAS/RAF pathway … looked at DNA copy number changes, or changes in gene number resulting from the deletion or amplification …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Newly discovered gene helps some yeast endure toxins and can help scientists … this analysis, the researchers determined that the KTD1 gene provides resistance to the K28 toxin. “This gene has never been studied before,” said Sadhu. “Identifying …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… a leading role in sequencing the canine genome. The gene, known as BRAF , directs cells to make a protein that …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… Step 4: Preparation for stem cell collection (~90 days) Gene therapy requires stem cells to be collected from your … cell collection. The process differs based on the type of gene therapy approach. The process does not always work. If … fails, you may need to repeat stem cell collection. If the gene-modified stem cells do not meet certain criteria and …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … smoking affected the relationship between an individual's gene variants and their lipids. Lipids consist of low-density … African ancestry. This enabled researchers to find new gene regions associated with lipids that could not be found …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … using a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty … then investigated which of these potentially bad gene variants contributed to the patients' undiagnosed …
Educational Resources
A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution.
… … A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution. … Deoxyribonucleic Acid (DNA), Gene, Evolution, Mutation … A pseudogene is a segment of DNA … have lost their protein-coding ability due to accumulated mutations that have occurred over the course of evolution. … …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating … disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical process Dr. Tifft, a geneticist at the …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… made a good start in identifying and understanding genetic mutations that have evolved over thousands of years to … from disease-causing pathogens. … Today, these same mutations can increase the risk of other diseases in Africans and people of African descent. Mutations in the gene APOL1 , for example, evolved to offer protection against …