Filtered By:
Therapy: Gene Therapy

This page shows you your search results in order of relevance. This is page number 18.

Order by Relevance | Date

Total 388 results found since Jan 2013.

Inflammation in sickle cell disease.
Abstract The primary β-globin gene mutation that causes sickle cell disease (SCD) has significant pathophysiological consequences that result in hemolytic events and the induction of the inflammatory processes that ultimately lead to vaso-occlusion. In addition to their role in the initiation of the acute painful vaso-occlusive episodes that are characteristic of SCD, inflammatory processes are also key components of many of the complications of the disease including autosplenectomy, acute chest syndrome, pulmonary hypertension, leg ulcers, nephropathy and stroke. We, herein, discuss the events that trigger infla...
Source: Clinical Hemorheology and Microcirculation - April 5, 2018 Category: Hematology Authors: Conran N, Belcher JD Tags: Clin Hemorheol Microcirc Source Type: research

Altered Long Non-Coding RNA Transcriptomic Profiles in Ischemic Stroke
Human Gene Therapy, Ahead of Print.
Source: Human Gene Therapy - April 5, 2018 Category: Genetics & Stem Cells Authors: Wenzhen He Duncan Wei De Cai Siqia Chen Shunxian Li Wenjie Chen Source Type: research

Neuroscience is the Next Oncology
by Michael D. Ehlers, MD, PhD Dr. Ehlers is with Biogen in Cambridge, Massachusetts. Innov Clin Neurosci. 2018;15(3–4):15–16 Funding: No funding was received for the preparation of this article. Disclosures: Dr. Ehlers is an employee and shareholder at Biogen Inc. in Cambridge, Massachusetts. Prominent and expensive failures in Alzheimer’s disease therapies have led to a contagious belief system in some parts of the biopharma industry that neuroscience is just too hard, too risky, and too uncertain. But, might this belief system itself be a residual bias of the past? Close inspection reveals all the signs of a coming...
Source: Innovations in Clinical Neuroscience - April 1, 2018 Category: Neuroscience Authors: ICNS Online Editor Tags: Commentary Current Issue Source Type: research

830 Fabry rat skin findings demonstrate potential roles of inflammation and lipoatrophy in Fabry disease
Fabry disease is an X-linked lysosomal disease caused by α-galactosidase A deficiency. Patients experience distal extremity pain and often develop renal failure, cardiomyopathy, and stroke. Dermatological manifestations include sweating abnormalities and angiokeratomas. To gain a better understanding of disease mechanisms, we generated a Fabry rat model using CRISPR/Cas9 technology and confirmed the absence of α-galactosidase A activity in tissues. Wild type (WT) and Fabry rats were indistinguishable at young ages (weaning-6 months), but aging (9 months+) Fabry rats developed an unkempt appearance, alopecia, and xeroderma.
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: J.J. Miller, O. Sokumbi, P.E. North, N.M. Dahms Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels which lead to disfigurement, overgrowth, stroke, pain and/or life-threatening bleeding, depending on the vessel size and the body site. Therapeutic options are severely limited and multi-disciplinary management remains challenging. To investigate the pathogenesis of 160 sporadic intracranial and extracranial VMs in which known genetic causes had been excluded, sequencing of affected tissue DNA was undertaken using next generation sequencing optimised for detection of low mutant allele frequency.
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: S. Polubothu, L. Al-Olabi, K. Dowsett, K. Andrews, P. Stadnik, R. Knox, W. Baird, M. Glover, C. Moss, A. Thomas, L. Biesecker, R. Semple, E. Patton, V. Kinsler Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

Current and promising therapies in autosomal recessive ataxias.
CONCLUSION: The aim of this review is to provide a comprehensive clinical profile and to review the current available therapies. We overview the physiopathology, neurological features and diagnostic approach of the common recessive ataxias. The emphasis is also put on potential drugs currently or soon-to-be in clinical trials. Promising gene therapies raise the possibility of treating specifically Friedreich's ataxia, Ataxia-telangiectasia, Wilson's disease and Niemann-Pick disease in the next few years. PMID: 29676235 [PubMed - as supplied by publisher]
Source: CNS and Neurological Disorders Drug Targets - April 18, 2018 Category: Drugs & Pharmacology Authors: Picher-Martel V, Dupre N Tags: CNS Neurol Disord Drug Targets Source Type: research

830 Fabry rat skin findings demonstrate potential roles of inflammation and lipoatrophy in Fabry disease
Fabry disease is an X-linked lysosomal disease caused by α-galactosidase A deficiency. Patients experience distal extremity pain and often develop renal failure, cardiomyopathy, and stroke. Dermatological manifestations include sweating abnormalities and angiokeratomas. To gain a better understanding of disease mechanisms, we generated a Fabry rat model using CRISPR/Cas9 technology and confirmed the absence of α-galactosidase A activity in tissues. Wild type (WT) and Fabry rats were indistinguishable at young ages (weaning-6 months), but aging (9 months+) Fabry rats developed an unkempt appearance, alopecia, and xeroderma.
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: J.J. Miller, O. Sokumbi, P.E. North, N.M. Dahms Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels which lead to disfigurement, overgrowth, stroke, pain and/or life-threatening bleeding, depending on the vessel size and the body site. Therapeutic options are severely limited and multi-disciplinary management remains challenging. To investigate the pathogenesis of 160 sporadic intracranial and extracranial VMs in which known genetic causes had been excluded, sequencing of affected tissue DNA was undertaken using next generation sequencing optimised for detection of low mutant allele frequency.
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: S. Polubothu, L. Al-Olabi, K. Dowsett, K. Andrews, P. Stadnik, R. Knox, W. Baird, M. Glover, C. Moss, A. Thomas, L. Biesecker, R. Semple, E. Patton, V. Kinsler Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

Combined Gene Therapy to Reduce the Neuronal Damage in the Mouse Model of Focal Ischemic Injury
AbstractResearch into stroke is driven by frustration over the limited available therapeutics. Targeting a single aspect of this multifactorial disease contributes to the therapeutic boundaries. To overcome this, we devised a novel multifactorial-cocktail treatment, using lentiviruses encoding excitatory amino acid transporter 2 (EAAT2(, glutamate dehydrogenase 2 (GDH2), and nuclear factor E2-related factor 2 (Nrf2) genes, that acts synergistically to address the effected excito-oxidative axis. Here, we used the vasoconstrictor endothelin-1 (ET-1) to induce focal ischemic injury in mice by direct injection into the striatu...
Source: Journal of Molecular Neuroscience - September 3, 2018 Category: Neuroscience Source Type: research

New gene therapy reprograms brain glial cells into neurons
(Penn State) A new gene therapy can turn certain brain glial cells into functioning neurons, which in turn could help repair the brain after a stroke or during neurological disorders like Alzheimer's or Parkinson's diseases.
Source: EurekAlert! - Biology - November 5, 2018 Category: Biology Source Type: news

Current Results of Lentiglobin Gene Therapy in Patients with Severe Sickle Cell Disease Treated Under a Refined Protocol in the Phase 1 Hgb-206 Study
Backgroundβ-globin gene transfer has the potential for substantial clinical benefit in patients with sickle cell disease (SCD). LentiGlobin Drug Product (DP) contains autologous CD34+ hematopoietic stem cells (HSCs) transduced with the BB305 lentiviral vector (LVV), encoding β-globin with an anti-sickling substitution (T87Q). The safety and efficacy of LentiGlobin gene therapy is being evaluated in the ongoing Phase 1 HGB-206 study (NCT02140554). Results in the initial 7 patients treated with LentiGlobin DP from steady state bone marrow harvested (BMH) HSCs using original DP manufacturing process (Group A) demons...
Source: Blood - November 21, 2018 Category: Hematology Authors: Tisdale, J. F., Kanter, J., Mapara, M. Y., Kwiatkowski, J. L., Krishnamurti, L., Schmidt, M., Miller, A. L., Pierciey, F. J., Shi, W., Ribeil, J.-A., Asmal, M., Thompson, A. A., Walters, M. C. Tags: 801. Gene Therapy and Transfer: Gene Therapy for Blood Cell Disorders Source Type: research

Efficacy Evaluation of Liver-Directed Gene Therapy in Fabry Mice
Conclusions: Collectively, these data provide strong evidence that our liver-directed AAV-mediated gene therapy approach holds considerable therapeutic potential for the treatment of Fabry disease. We anticipate that a single dose IV procedure will pose minimal burden to Fabry patients and will be a viable alternative to biweekly enzyme infusions, potentially reducing treatment-related morbidity whislt improving patient quality of life and potentially providing them with a functional long-term cure.DisclosuresKia: Freeline: Employment, Equity Ownership. McIntosh: Freeline: Consultancy. Hosseini: Freeline: Employment, Equit...
Source: Blood - November 21, 2018 Category: Hematology Authors: Kia, A., McIntosh, J., Rosales, C., Hosseini, P., Sheridan, R., Spiewak, J., Mills, K., Corbau, R., Nathwani, A. C. Tags: 801. Gene Therapy and Transfer: Poster I Source Type: research

Connecting Metainflammation and Neuroinflammation Through the PTN-MK-RPTP β/ζ Axis: Relevance in Therapeutic Development
Conclusion The expression of the components of the PTN-MK-RPTPβ/ζ axis in immune cells and in inflammatory diseases suggests important roles for this axis in inflammation. Pleiotrophin has been recently identified as a limiting factor of metainflammation, a chronic pathological state that contributes to neuroinflammation and neurodegeneration. Pleiotrophin also seems to potentiate acute neuroinflammation independently of the inflammatory stimulus while MK seems to play different -even opposite- roles in acute neuroinflammation depending on the stimulus. Which are the functions of MK and PTN in chronic neuroi...
Source: Frontiers in Pharmacology - April 11, 2019 Category: Drugs & Pharmacology Source Type: research

Therapeutic potential of AAV9-S15D-RLC gene delivery in humanized MYL2 mouse model of HCM
This study is focused on aspartic acid-to-valine (D166V) mutation in the myosin regulatory light chain, RLC (MYL2 gene), associated with a malignant form of HCM. Since myosin RLC phosphorylation is critical for normal cardiac function, we aimed to exploit this post-translational modification via phosphomimetic-RLC gene therapy. We hypothesized that mimicking/modulating cardiac RLC phosphorylation in non-phosphorylatable D166V myocardium would improve heart function of HCM-D166V mice. Adeno-associated virus, serotype-9 (AAV9) was used to deliver phosphomimetic human RLC variant with serine-to-aspartic acid substitution at S...
Source: Journal of Molecular Medicine - May 16, 2019 Category: Molecular Biology Source Type: research