Tag: MECP2

2023 gene therapy research STAR Grant winners announced

At PacBio, enabling the promise of genomics to better human health cuts right to the core of everything we do.That’s why in 2023 we created the STAR (Student Travel Awarded Researcher) Grant program. This exciting funding opportunity is intended to assist up-and-coming researchers in genomics-aligned fields with sequencing services and…

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HUIADGENE ANNOUNCES RARE PEDIATRIC DRUG DESIGNATION GRANTED TO HG302, A NOVEL CRISPR DNA-EDITING THERAPY, FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY

HG302 effectively generates stable genome editing with minimal off-target effects in-vitro and in-vivo A single intravenous injection of HG302 restores functional dystrophin protein expression HG302 demonstrates therapeutic effects by improving muscle functions in humanized DMD mice SHANGHAI and CLINTON, N.J., Dec. 19, 2023 /PRNewswire/ — HuidaGene Therapeutics (辉大基因”HuidaGene”) today announced…

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DNA polymerases in precise and predictable CRISPR/Cas9-mediated chromosomal rearrangements | BMC Biology

Cell culture The human endometrial carcinoma HEC-1-B cells were cultured in the modified Eagle’s medium (MEM) supplemented with 10% fetal bovine serum (FBS) and 1% penicillin-streptomycin at 37°C in a 5% (v/v) CO2 incubator. The human embryonic kidney HEK293T cells were cultured in the Dulbecco’s modified Eagle’s medium (DMEM) supplemented…

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tRNA therapeutics for genetic diseases

Huang, X. et al. The landscape of mRNA nanomedicine. Nat. Med. 28, 2273–2287 (2022). Article  CAS  Google Scholar  Rohner, E., Yang, R., Foo, K. S., Goedel, A. & Chien, K. R. Unlocking the promise of mRNA therapeutics. Nat. Biotechnol. 40, 1586–1600 (2022). Article  CAS  Google Scholar  Brown, A., Shao, S.,…

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Characterization of H3K9me3 and DNA methylation co-marked CpG-rich regions during mouse development | BMC Genomics

CHMs are stable during mouse development To explore the co-localization between H3K9me3 and DNA methylation, we collected public H3K9me3 chromatin immunoprecipitation sequencing (ChIP-seq) and whole-genome bisulfite sequencing (WGBS) data during mouse pre-implantation embryogenesis [11], PGC development [12], spermatogenesis [13, 14], retina development [15], heart and liver development after gastrulation [16,17,18]…

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When Glia Meet Induced Pluripotent Stem Cells (iPSCs)

Abstract The importance of glial cells, mainly astrocytes, oligodendrocytes, and microglia, in the central nervous system (CNS) has been increasingly appreciated. Recent advances have demonstrated the diversity of glial cells and their contribution to human CNS development, normal CNS functions, and disease progression. The uniqueness of human glial cells is…

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Novel Rett syndrome variant shines light on n

Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic ‘hand-wringing’ movements, seizures, and cognitive disability. This incurable condition results from mutations in the methyl-CpG binding protein 2 (MECP2) gene that impairs the role…

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Modeling SHANK3-associated autism spectrum disorder in Beagle dogs via CRISPR/Cas9 gene editing

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515:209–15. Article  PubMed  PubMed Central  Google Scholar  Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo…

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Investigation of LGALS2 expression in the TCGA database reveals its clinical relevance in breast cancer immunotherapy and drug resistance

Bray, F., Laversanne, M., Weiderpass, E. & Soerjomataram, I. The ever-increasing importance of cancer as a leading cause of premature death worldwide. Cancer 127, 3029–3030. doi.org/10.1002/cncr.33587 (2021). Article  PubMed  Google Scholar  Xia, C. et al. Cancer statistics in China and United States, 2022: Profiles, trends, and determinants. Chin. Med. J….

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Study helps explain how the brain adapts during a critical period of adulthood

Oct 5 2023 Developing brains become shaped by the sights, sounds, and experiences of early life. The brain’s circuits grow more stable as we age. However, some experiences later in life open up opportunities for these circuits to be rapidly rewired. New research from Cold Spring Harbor Laboratory Associate Professor…

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age-related methylation changes across the whole genome

Aging is a biological process that is characterized by a gradual decline in the function of organs leading to increased vulnerability to several diseases. We can see and feel it happening, but the process also happens on a molecular level – research has highlighted epigenetic modifications such as DNA methylation,…

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Precision RNA base editing with engineered and endogenous effectors

Gray, M. W. Evolutionary origin of RNA editing. Biochemistry 51, 5235–5242 (2012). Article  CAS  PubMed  Google Scholar  Covello, P. & Gray, M. On the evolution of RNA editing. Trends Genet. 9, 265–268 (1993). Article  CAS  PubMed  Google Scholar  Yablonovitch, A. L., Deng, P., Jacobson, D. & Li, J. B. The…

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Translation dysregulation in neurodegenerative diseases: a focus on ALS | Molecular Neurodegeneration

Tandan R, Bradley WG. Amyotrophic lateral sclerosis: part 1. Clinical features, pathology, and ethical issues in management. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society. 1985;18:271–80. Article  CAS  Google Scholar  Mehta P et al. Prevalence of amyotrophic lateral sclerosis (ALS), United States, 2016….

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Novel epigenetic molecular therapies for imprinting disorders

Surani MA, Barton SC, Norris ML. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature. 1984;308:548–50. Article  CAS  PubMed  Google Scholar  McGrath J, Solter D. Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell. 1984;37:179–83. Article  CAS  PubMed  Google Scholar  Barlow DP, Stoger…

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A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

Lyon, M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190, 372–373. doi.org/10.1038/190372a0 (1961). Article  ADS  CAS  PubMed  Google Scholar  Loda, A., Collombet, S. & Heard, E. Gene regulation in time and space during X-chromosome inactivation. Nat. Rev. Mol. Cell Biol. doi.org/10.1038/s41580-021-00438-7 (2022). Article  PubMed …

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MS Medications Added to WHO Essential List, Epigenome Therapy Shows Efficacy in AD, Phase 3 NEURO-TTransform Results Announced

WATCH TIME: 4 minutes Welcome to this special edition of Neurology News Network. I’m Marco Meglio. The World Health Organization (WHO) published new editions of the Model Lists of Essential Medicines (EML) and Essential Medicines for Children (EMLc), which now include 3 new therapies for the treatment of multiple sclerosis….

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ncRNA | Free Full-Text | Crosstalk between Long Non-Coding RNA and Spliceosomal microRNA as a Novel Biomarker for Cancer

3.1.1. HAGLR (HOXD Antisense Growth-Associated Long Non-Coding RNA) HAGLR, known also as HOXD-AS1, is located between the HOXD1 and HOXD3 genes on chromosome 2q31.1 (Figure 1A) and has been reported to play a critical role in the development and progression of different human cancers, including bladder, cervical, colorectal, gastric, ovarian,…

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Rett syndrome drug studied at Vanderbilt approved for patients | VUMC Reporter

  by Craig Boerner The first drug to treat the symptoms of Rett syndrome was recently approved, following a Nature Medicine study publishing results from the pivotal phase 3 LAVENDER study led by investigators from Vanderbilt University Medical Center to evaluate efficacy and safety of trofinetide. Positive findings from the…

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Epigenetic silencing of OR and TAS2R genes expression in human orbitofrontal cortex at early stages of sporadic Alzheimer’s disease

doi: 10.1007/s00018-023-04845-1. Affiliations Expand Affiliations 1 Neurodegenerative Diseases Group, Hospital Universitario 12 de Octubre Research Institute (imas12), Madrid, Spain. vdacunhaalves@gmail.com. 2 Network Center for Biomedical Research, Neurodegenerative Diseases (CIBERNED), Madrid, Spain. vdacunhaalves@gmail.com. 3 PhD Program in Neuroscience, Autonoma de Madrid University, Madrid, Spain. vdacunhaalves@gmail.com. 4 Neurodegenerative Diseases Group, Hospital Universitario…

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Nanoscale Diesel-Exhaust Particulate Matter (DPM) Impairs Synaptic Plasticity of Human iPSCs-Derived Cerebral Organoids

Babadjouni, R., et al.: Nanoparticulate matter exposure results in neuroinflammatory changes in the corpus callosum. PLoS One 13, e0206934 (2018) Article  PubMed  PubMed Central  Google Scholar  Bershteyn, M., et al.: Human iPSC-derived cerebral organoids model cellular features of lissencephaly and reveal prolonged mitosis of outer radial glia. Cell Stem Cell 20,…

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Acadia Pharma (ACAD) Announces Nature Medicine Publishes Results from Pivotal Phase 3 LAVENDER Study Evaluating DAYBUE in Patients with Rett Syndrome

Study results provided basis for first FDA-approved treatment for Rett syndrome Acadia Pharmaceuticals Inc. (Nasdaq: ACAD) today announced that Nature Medicine published results from the pivotal Phase 3 LAVENDER™ trial, a 12-week randomized, double-blind, placebo-controlled study evaluating the efficacy and safety of DAYBUE™ in patients with Rett syndrome five to…

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Integrated multi-omics for rapid rare disease diagnosis on a national scale

Ethics The Australian Genomics Acute Care study has Human Research Ethics Committee approval (HREC/16/MH/251). Parents provided informed consent for participation in the study, following genetic counseling. Study design and participants The Acute Care Genomics program is a national multi-site study delivering ultra-rapid genomic testing to critically ill pediatric patients with…

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Acadia Pharma Announces Nature Medicine Publishes Results from Pivotal Phase 3 LAVENDER Study Evaluating DAYBUE in Patients with Rett Syndrome

Study results provided basis for first FDA-approved treatment for Rett syndrome Acadia Pharmaceuticals Inc. (Nasdaq: ACAD) today announced that Nature Medicine published results from the pivotal Phase 3 LAVENDER™ trial, a 12-week randomized, double-blind, placebo-controlled study evaluating the efficacy and safety of DAYBUE™ in patients with Rett syndrome five to…

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Integrated analysis of circRNA-associated ceRNA in ischemic stroke

1 Introduction Stroke is the leading cause of permanent disability (Diener and Hankey, 2020). The latest global burden of disease (GBD) study (GBD 2019 Diseases and Injuries Collaborators, 2020) indicated that stroke is the leading cause of death in the Chinese population. The overall lifetime risk of stroke in China…

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Multi-faceted CRISPR/Cas technological innovation aspects in the framework of 3P medicine

Golubnitschaja O, Baban B, Boniolo G, Wang W, Bubnov R, Kapalla M, et al. Medicine in the early twenty-first century: paradigm and anticipation – EPMA position paper 2016. EPMA J. 2016;7:23. Article  PubMed  PubMed Central  Google Scholar  Kropp M, Golubnitschaja O, Mazurakova A, Koklesova L, Sargheini N, Vo T-TKS, et…

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HuidaGene Therapeutics Announces Release of World’s First…

2 19.05.2023 – 04:50 Huidagene Therapeutics SHANGHAI and CLINTON, NJ, April 20 /PRNewswire/ HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage genome editing company, announced today that in the online journal National Science Review published comprehensive data from a study on the world‘s first G-to-Y converting DNA base editor, the glycosylase-based guanine…

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Bioinformatics-Based Identification of CircRNA-MicroRNA-mRNA Network for Calcific Aortic Valve Disease

Background. Calcific aortic valve disease (CAVD) is the most common native valve disease. Valvular interstitial cell (VIC) osteogenic differentiation and valvular endothelial cell (VEC) dysfunction are key steps in CAVD progression. Circular RNA (circRNAs) is involved in regulating osteogenic differentiation with mesenchymal cells and is associated with multiple disease progression,…

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HuidaGene Therapeutics Announces Publication of the World’s First Guanine Base-Editor

SHANGHAI and CLINTON, N.J., May 18, 2023 /PRNewswire/ — HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage genome-editing company, today announced the online National Science Review published the comprehensive data from a study of the world’s first DNA base editor converting G-to-Y, glycosylase-based guanine base editor (gGBE). Company has filed an international…

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HuidaGene Therapeutics Novel Cas12i DNA Gene Editing System Has Been Patented by…

17.05.2023 – 14:17 Huidagene Therapeutics SHANGHAI and CLINTON, NJ, April 20 /PRNewswire/ HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage company focused on the development of gene editing tools and gene therapies, announced today that the United States Patent and Trademark Office (USPTO) has granted the Company has granted patent US11,649,444B1 for…

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HuidaGene Therapeutics’ Novel DNA Gene-Editing System Cas12i Patent Granted by USPTO

SHANGHAI and CLINTON, N.J., May 16, 2023 /PRNewswire/ — HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage company focusing on developing gene editing tools and gene therapies, today announced that the United States Patent and Trademark Office (USPTO) has granted to the Company patent US11,649,444B1 with respect to its independently-developed DNA editing system,…

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Cellular ‘cruise control’ system safeguards RNA levels in Rett syndrome nerve cells

Cis-acting elements in the 3ʹUTR are highly associated with half-life changes. a Random forest classifier for prediction of mRNA sequence features relevant for half-life fold-change in human NEURTT and in cortical brain samples of the mouse Mecp2 y/-. Percent accuracy (Y-axis) of half-life fold-change predictions in human NEURTT (b) from…

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The genome-wide mutational consequences of DNA hypomethylation

Goldberg, A. D., Allis, C. D. & Bernstein, E. Epigenetics: A landscape takes shape. Cell 128, 635–638 (2007). Article  PubMed  Google Scholar  Mohn, F. & Schübeler, D. Genetics and epigenetics: Stability and plasticity during cellular differentiation. Trends Genet. 25, 129–136 (2009). Article  PubMed  Google Scholar  Takahashi, K. et al. Induction…

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Alternative CDC20 translational isoforms tune mitotic arrest duration

Musacchio, A. The molecular biology of spindle assembly checkpoint signaling dynamics. Curr. Biol. 25, R1002–R1018 (2015). Article  CAS  PubMed  Google Scholar  Lara-Gonzalez, P., Pines, J. & Desai, A. Spindle assembly checkpoint activation and silencing at kinetochores. Semin. Cell Dev. Biol. 117, 86–98 (2021). Article  CAS  PubMed  PubMed Central  Google Scholar …

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Epigenetic and epitranscriptomic regulation of axon regeneration

Goldberg JL, Klassen MP, Hua Y, Barres BA. Amacrine-signaled loss of intrinsic axon growth ability by retinal ganglion cells. Science. 2002;296:1860–4. Article  CAS  PubMed  Google Scholar  Blackmore M, Letourneau PC. Changes within maturing neurons limit axonal regeneration in the developing spinal cord. J Neurobiol. 2006;66:348–60. Article  CAS  PubMed  Google Scholar …

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The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research

Jones HB. Pathology. In: Wexler P. (eds). Information resources in toxicology (Fourth Edition). Academic Press: San Diego, 2009, pp 357–63. Griesinger W. Die Pathologie und therapie der psychischen krankheiten. (Krabbe:Stuttgart, 1861). Kraepelin E. Psychiatrie: ein Lehrbuch für Studierende und Aerzte. (Verlag von Johann Ambrosius Barth:Leipzig, 1899). Jauhar S, Johnstone M,…

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Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population | BMC Psychiatry

WHO. Autism spectrum disorders and other developmental disorders: From raising awareness to building capacity. Geneva: World Health Organization; 2013. Google Scholar  Sahin M, Sur M. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015;350:6263. Kim JY, Son MJ, Son CY, Radua J, Eisenhut M, Gressier F,…

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AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

Wang, D., Tai, P. W. L. & Gao, G. Adeno-associated virus vector as a platform for gene therapy delivery. Nat. Rev. Drug Discov. 18, 358–378 (2019). CAS  PubMed  PubMed Central  Google Scholar  Li, C. & Samulski, R. J. Engineering adeno-associated virus vectors for gene therapy. Nat. Rev. Genet. 21, 255–272…

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In Rett Models, Regulatory RNAs Appear To Be Altered

Regulatory RNAs involved in nerve cell signaling and structure were altered in cell and mouse models of Rett syndrome, with these changes also evident in tissue from deceased patients, a study reported. These findings aid in understanding the biological processes impaired in Rett and may reveal potential biomarkers to help…

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Environmental Factor – September 2021: Intramural Papers of the Month

IntramuralBy Nicholas Alagna, Kelley Christensen, Mimi Huang, Janelle Weaver, and Qing Xu DNTP develops whole-genome sequencing of cell-free DNA in blood Researchers from the Division of the National Toxicology Program have developed a protocol for whole-genome sequencing of low quantities of circulating cell-free DNA. Small amounts of DNA are typically…

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