An international team of researchers that pooled genetic samples from developmentally disabled patients from around the world has identified dozens of new mutations in a single gene that appears to be critical for brain development.
Mar 4, 2020
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A massive analysis of the entire genomes of 2,658 people with 38 different types of cancer has identified mutations in 179 genes and gene regulators as "drivers"—variations in DNA sequences that lead to the development ...
Feb 20, 2020
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Acute myeloid leukemia (AML), a blood cancer affecting both adults and children, requires more than one genetic "hit" to develop. As we age, many of us acquire a mutation that enables certain of our blood cells to multiply ...
Feb 14, 2020
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A new CRISPR gene-editing technique prevented a genetic liver disease known to be driven by hundreds of different mutations and improved clinical symptoms in mice, Penn Medicine researchers reported in new proof-of-concept ...
Feb 12, 2020
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A genetic mutation that disrupts how DNA sends messages to the rest of a cell has been linked to a large number of blood cancers. Thanks to a collaboration between biologists at Cold Spring Harbor Laboratory (CSHL) and an ...
Jan 31, 2020
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The first genetic analysis of schizophrenia in an ancestral African population, the South African Xhosa, appears in the Jan. 31 issue of the journal Science. An international group of scientists conducted the research, including ...
Jan 30, 2020
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A team of researchers affiliated with multiple institutions in Massachusetts has discovered some of the precancerous milestones that can lead to breast cancer in women with a BRCA2 gene mutation. In their paper published ...
A study led by the IBB-UAB has identified the molecular mechanism through which a protein carrying genetic mutations associated with limb-girdle muscular dystrophy type 1G accelerates its tendency to form amyloid fibrils ...
Jan 29, 2020
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In an unprecedented pan-cancer analysis of whole genomes, researchers at the Ontario Institute for Cancer Research (OICR) have discovered new regions of non-coding DNA that, when altered, may lead to cancer growth and progression.
Jan 18, 2020
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A stem cell transplant—also called a bone marrow transplant—is a common treatment for blood cancers, such as acute myeloid leukemia (AML). Such treatment can cure blood cancers but also can lead to life-threatening complications, ...
Jan 15, 2020
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