Genetic results from the Deciphering Developmental Disorders (DDD) study have enabled thousands of children with severe developmental disorders to receive better treatment. Peer-Reviewed Publication Wellcome Trust Sanger Institute image: Jaydi today Credit: Photo courtesy of Lisa Hawker Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights...
Category: <span>Genetics</span>
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Researchers discover what hinders DNA repair in patients with Huntington disease
September 27, 2024 by McMaster University A montage of three images of single striatal neurons transfected with a disease-associated version of huntingtin, the protein that causes Huntington’s disease. Nuclei of untransfected neurons are seen in the background (blue). The neuron in the center (yellow) contains an abnormal intracellular accumulation of huntingtin called an inclusion body...
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World’s first individual gene mutation test for predicting risk of sudden cardiac death
September 26, 2024 by Victor Chang Cardiac Research Institute Scientists at the Victor Chang Cardiac Research Institute, working with colleagues at the Vanderbilt University Medical Center, have developed a world-first, individualized risk prediction tool for people suffering from a type of heart arrhythmia that can cause sudden cardiac arrest. This is the first time a...
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New mutation linked to early-onset Parkinsonism
News Release 26-Sep-2024 Peer-Reviewed PublicationVlaams Instituut voor Biotechnologie Synapse loss can be observed in aged mutant flies (top image) compared to controls (bottom image)Credit: COPYRIGHT: VIB Leuven, 26 September 2024 – A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset...
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Single-dose gene therapy is potentially life-changing for adults with hemophilia B
Adults with hemophilia B saw their number of bleeding episodes drop by an average of 71% after a single infusion of gene therapy, according to the results of an international Phase III clinical trial published in the New England Journal of Medicine by researchers from the University of Pennsylvania Perelman School of Medicine and a...
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Largest-ever genetic study of epilepsy finds possible therapeutic targets
Epilepsy genetic architecture from large-scale genetic association studies. Credit: Nature Neuroscience (2024). DOI: 10.1038/s41593-024-01747-8 The largest and most diverse study to date of epilepsy’s genetic factors has revealed new potential targets for treatment, both shared by and unique to different subtypes of epilepsy. The findings point to factors involved in how neurons communicate and fire, suggesting potential...
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CRISPR-Cas13: A new frontier in RNA-editing with revolutionary therapeutic potential
News Release 25-Sep-2024 Researchers reviewed the recent therapeutic developments and upcoming challenges of CRISPR-Cas13, a cutting-edge RNA-editing technology Peer-Reviewed PublicationNanjing Agricultural University The Academy of Science In recent years, the scientific community has made significant strides in the field of gene editing, particularly through the development of the CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)...
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Bacterial ‘flipping’ allows genes to assume different forms
News Release 25-Sep-2024 A gene can code for multiple bacterial features Peer-Reviewed PublicationStanford Medicine Imagine being one cartwheel away from changing your appearance. One flip, and your brunette locks are platinum blond. That’s not too far from what happens in some prokaryotes, or single-cell organisms, such as bacteria, that undergo something called inversions. A study...
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Searching for a vaccine against an ancient scourge: Syphilis genetics study points to a potential target
September 19, 2024 by University of Connecticut Accumulation of lineage-associated and population-associated missense mutations in select TPA proteins. Credit: The Lancet Microbe (2024). DOI: 10.1016/S2666-5247(24)00087-9Syphilis cases have surged worldwide, leaving public health officials scrounging for ways to stop the spread. Now, a large, collaborative study of syphilis genetics from four continents has found hints of...
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Scientists discover how mutations affect calcium release channel and impact muscle disorders
September 18, 2024 by Juntendo University Research Promotion Center S5 mutations disrupt RyR1 channel function, influencing both channel activity and gating mechanisms. This impacts the release of calcium and affects muscle contractions, leading to severe muscle diseases such as malignant hyperthermia and central core disease. Credit: Associate Professor Takashi Murayama from Juntendo University, Japan and...