A5070848755- Virus-based gene therapy research
- Muscle Physiology and Disorders
- Hemophilia Treatment and Research
- CRISPR and Genetic Engineering
- Blood Coagulation and Thrombosis Mechanisms
- Cardiomyopathy and Myosin Studies
- Viral Infectious Diseases and Gene Expression in Insects
- Cancer-related gene regulation
- Parvovirus B19 Infection Studies
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- CAR-T cell therapy research
- Cell Adhesion Molecules Research
- Viral gastroenteritis research and epidemiology
- Pluripotent Stem Cells Research
- Innovation and Socioeconomic Development
- SARS-CoV-2 and COVID-19 Research
- Tissue Engineering and Regenerative Medicine
- Animal Genetics and Reproduction
- Blood properties and coagulation
- S100 Proteins and Annexins
- Platelet Disorders and Treatments
University of Washington
2017-2023
University of Pennsylvania
2012-2017
Seattle University
2017
Children's Hospital of Philadelphia
2010-2016
Clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 is a genome-editing technology1,2 that utilizes archaeal and bacterial Cas9 nucleases to introduce double-stranded breaks in DNA at targeted sites. These can be used remove, replace, or add pieces of DNA. While not the first genome editor, CRISPR-Cas9 efficient cost-effective because cutting guided by strand RNA rather than protein. The potential uses health care are plentiful, from disrupting dominant genes cause...
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by the absence of dystrophin, membrane-stabilizing protein encoded DMD gene. Although mouse models provide insight into potential corrective therapy, data from genetically homologous large animals, such as dystrophin-deficient golden retriever (GRMD) model, may more readily translate to humans. To evaluate clinical translatability an adeno-associated virus serotype 9 vector (AAV9)–microdystrophin (μDys5)...
Processing by the proprotein convertase furin is believed to be critical for biological activity of multiple proteins involved in hemostasis, including coagulation factor VIII (FVIII). This belief prompted retention recognition motif (amino acids 1645-1648) design B-domain-deleted FVIII (FVIII-BDD) products current clinical use and drug development pipeline, as well experimental gene therapy strategies. Here, we report that processing fact deleterious FVIII-BDD secretion procoagulant...
Gene editing has shown promise for correcting or bypassing dystrophin mutations in Duchenne muscular dystrophy (DMD). However, preclinical studies have focused on young animals with limited muscle fibrosis and wasting, thereby favoring transduction, myonuclear editing, prevention of disease progression. Here, we explore muscle-specific gene following intramuscular delivery AAV6:CK8e-CRISPR/SaCas9 3- 8-year-old dystrophic CXMD dogs provide a qualitative comparison to...
Abstract Background Nebulin is a critical thin filament-binding protein that spans from the Z-disk of skeletal muscle sarcomere to near pointed end filament. Its massive size and actin-binding property allows it provide filaments with structural regulatory support. When this lost, nemaline myopathy occurs. Nemaline causes severe weakness as well defects on sarcomeric level. There no known cure for disease. Methods We studied whether structure function can be improved by introducing nebulin’s...
Following the publication of this paper [1], it was brought to authors’ attention that one contributing authors left off paper. The apologize for unfortunate oversight. In correction paper, they have included Dr. Paola Tonino in author list section.