Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve ...
Sep 16, 2013
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(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition ...
Apr 3, 2013
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Up to half of all prostate cancer cells have a chromosomal rearrangement that results in a new "fusion" gene and formation of its unique protein -- but no one has known how that alteration promotes cancer growth. Now, Weill ...
May 22, 2012
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In a recent study led by Uppsala University, the researchers compared the DNA of identical (monozygotic) twins of different age. They could show that structural modifications of the DNA, where large or small DNA segments ...
Feb 2, 2012
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Researchers at the University of Michigan Comprehensive Cancer Center have discovered two cancer-spurring gene rearrangements that may trigger 5 to 7 percent of all breast cancers.
Nov 20, 2011
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Using a diversity of DNA sequencing and human genome analytic techniques, researchers led by Baylor College of Medicine have identified some cases of developmental delay or cognitive disorders associated with a sudden chromosomal ...
Sep 15, 2011
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A new editorial paper titled "Are cis-spliced fusion proteins pathological in more aggressive luminal breast cancer?" has been published in Oncotarget.
Aug 21, 2023
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An international team of scientists has uncovered one of the mechanisms explaining how some leukemias evade treatment by changing their appearance and identity.
Oct 31, 2022
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A study led by D. Ross Camidge, MD, Ph.D., director of thoracic oncology at the University of Colorado School of Medicine and CU Cancer Center member, has helped to define MET amplification as a rare but potentially actionable ...
Jul 20, 2021
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The CRISPR/Cas9 gene-editing tool is one of the most promising approaches to advancing treatments of genetic diseases—including cancer—an area of research where progress is constantly being made. Now, the Molecular Cytogenetics ...
Oct 8, 2020
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