by Will Cushman, University of Wisconsin-Madison A section of brain tissue from a rat that received a gene therapy targeting the Trk-fused gene. A mutation in that gene is implicated in the development of certain motor neuron diseases. Green arrows highlight neurons expressing elevated levels of the gene following the therapy. Red arrows indicate other nerve...
Category: <span>Genetics</span>
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One gene provides diagnoses for 30 patients whose condition was unexplained for years
by Ana María Rodríguez, Baylor College of Medicine Credit: Pixabay/CC0 Public Domain An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted by researchers at Baylor College of Medicine, National University of Singapore and collaborating institutions worldwide, was published in Genetics...
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One gene provides diagnoses for 30 patients whose condition was unexplained for years
by Ana María Rodríguez, Baylor College of Medicine Credit: Pixabay/CC0 Public Domain An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted by researchers at Baylor College of Medicine, National University of Singapore and collaborating institutions worldwide, was published in Genetics...
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New method to analyze complex genetic data could be the key to tackling rare diseases
by University of Nottingham Credit: CC0 Public Domain Scientists from the University of Nottingham have developed a new method of genetic analysis, which extracts more precise data than previously used methods when looking at DNA, and will improve our understanding of the genetic basis of rare and complex diseases. The findings of the study, which are...
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Understanding how mutations affect diseases: Model looks beyond the ‘black box’ of genome-wide association studies
by Institute of Science and Technology Austria Traditional GWAS “black box”-like models use statistics to predict disease risk from genomes. Most diseases are polygenic, meaning many sites in the genome contribute towards disease risk, making it hard to pinpoint the underlying biological mechanisms. Credit: Natália Ružičková/ISTA Many statistical models and algorithms used by scientists can be...
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Genetic variants in melatonin receptor linked to idiopathic osteoporosis
by Justin Jackson , Medical Xpress Credit: cottonbro studio from Pexels Columbia University Medical Center researchers have identified specific variants in a melatonin receptor gene that impair bone turnover, leading to significant reductions in bone density and increased risk of fractures, particularly in Ashkenazi Jewish individuals. Osteoporosis is a common bone disorder characterized by low...
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Little-studied RNA might be key to regulating genetic disorders like epilepsy and autism
by Northwestern University A hairpin loop from a pre-mRNA. Highlighted are the nucleobases (green) and the ribose-phosphate backbone (blue). Note that this is a single strand of RNA that folds back upon itself. Credit: Vossman/ Wikipedia When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an...
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Gene named for mythical Irish land could aid muscle function after traumatic nerve injuries
by University at Buffalo The images above show neuromuscular junctions in a control group (left images), a group with a sciatic injury (middle images), and a group with a sciatic injury where NANOG was expressed. The green shows presynaptic axons and synaptic vesicles; the red shows postsynaptic acetylcholine receptors (AChRs); and the yellow shows regions of...
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CRISPR-Cas9 gene editing trial results support further development as treatment for hereditary angioedema
by Amsterdam University Medical Centers Credit: Pixabay/CC0 Public Domain A single treatment with a CRISPR-Cas9 based gene editing therapy is enough to replace the daily medication of patients with hereditary angioedema (HAE), a condition characterized by severe, painful and sudden onset of swelling, sometimes resulting in death. Confirming the findings published earlier this year by researchers...
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Researchers flip genes on and off with AI-designed DNA switches
The new method could revolutionize gene therapy and biotechnology by allowing precise activation or repression of genes in specific tissues. Jackson Laboratory image: A graphical representation of how cis-regulatory elements work to turn genes on or off and open possibilities for personalized medicine. Credit: Broad Institute of MIT and Harvard Researchers at The Jackson Laboratory...