Genetics
Neonatal DNA tests could save young lives, expert says
A few months ago, Lisa Diller saw a family for a consultation in her cancer clinic. Their story is one of tragedy, and of hope.
Apr 1, 2019
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Page 7 - News tagged with rare gene mutations
Genetics
Researchers reveal developmental mechanisms behind rare bone marrow disorder
Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells. Researchers from Charité - Universitätsmedizin Berlin have found that a ...
Apr 12, 2017
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Genetics
Gene controls three different diseases
An international research consortium led by the Universitat Autònoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending ...
Apr 25, 2013
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Oncology & Cancer
Study suggests patients with lung cancer who carry specific HER2 mutations may benefit from certain anti-HER2 treatments
New results from a retrospective study conducted in Europe suggest that anti-HER2 treatments, like the widely used breast cancer agent trastuzumab (Herceptin), have anti-cancer effects in a small subset of patients with advanced ...
Apr 22, 2013
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Genetics
Elimination of two ribosome subunits activates cell cycle control
Alterations in the formation of ribosomes (the elements of the cell where proteins are made) cause the induction of p53 protein and cell cycle disruption. This process is crucial to understand fundamental biological processes ...
May 22, 2012
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Genetics
Epileptic encephalopathy linked to protein trafficking gene
Researchers have linked a debilitating neurological disease in children to mutations in a gene that regulates neuronal development through control of protein movement within neuronal cells.
Nov 28, 2016
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Oncology & Cancer
Novel genomics tool enables more accurate identification of rare mutations in cancer cells
A new computational method developed by researchers at the New York Genome Center (NYGC) allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches.
Mar 22, 2018
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Genetics
Genomic screening to detect preventable rare diseases in healthy people
Experts from the UNC School of Medicine and the UNC Gillings School of Global Public Health propose that screening healthy adults for preventable diseases such as colorectal cancer, breast cancer, and several catastrophic ...
Mar 6, 2013
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Genetics
Study decodes gene function that protects against type 2 diabetes
An international research collaboration led by researchers from the Universities of Helsinki and Oxford has identified the biological mechanism through which a genetic variant protects against type 2 diabetes.
Nov 4, 2019
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Genetics
A new method for evaluating the pathogenicity of missense variants using AlphaFold2
The Department of Neurology at Niigata University has developed a new in silico method for evaluating the pathogenicity of missense variants using AlphaFold2 (MOVA).
Jun 14, 2023
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