The Horizon of Gene Therapy in Modern Medicine: Advances and Challenges

Arjmand, Babak; Larijani, Bagher; Hosseini, Marjan; Payab, Moloud; Gilany, Kambiz; Goodarzi, Parisa; Roudsari, Peyvand Parhizkar; Baharvand, Mobina Amanollahi; Mohammadi, Negin sadat Hoseini

doi:10.1007/5584_2019_463

Cited by 25 publications

(17 citation statements)

References 106 publications

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“…8 In this regard, novel mutations in some genes can be inherited in an autosomal dominant or autosomal recessive manner. 9 Here, we present a report of a novel homozygous TREX1 mutation in a child with a relatively severe AGS phenotype.…”

Section: Introductionmentioning

confidence: 89%

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

Sheikh-Hosseini

Moarefzadeh

Alavi-Moghaddam

et al. 2020

Journal of Pediatric Neurology

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Aicardi–Goutières' syndrome (AGS) is a rare heterogeneous genetic disorder characterized by encephalopathy and may bear resemblance to congenital infections. The prevalence of AGS is estimated at more than 4,000 worldwide. Mutations in TREX1 gene are present in ∼22% of patients. We present the case of a 2-year-old boy who came to the Biogene laboratory (Tehran, Iran) with a constellation of congenital disorders but no clear diagnosis. His clinical phenotype consisted of neonatal jaundice, relative microcephaly with diffuse cerebral atrophy in both hemispheres, developmental delay, hypotonia, and nystagmus. There was history of parental consanguineous marriage and prematurity. In our study, a homozygous potentially pathogenic mutation in TREX1 gene associated with AGS1 was detected. This mutation has not been reported in the other patients with AGS. A novel frameshift homozygous potentially pathogenic mutation in TREX1 is postulated to be the cause of disease in our patient.

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Section: Introductionmentioning

confidence: 89%

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

Sheikh-Hosseini

Moarefzadeh

Alavi-Moghaddam

et al. 2020

Journal of Pediatric Neurology

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“…Nevertheless, how exactly the agent improves ALS and who the target population is for the drug, are the questions that need further investigations to be answered ( 39 , 45 ). In addition, there are some therapeutic strategies that are at the research level ( 50 ). As an example, research has shown that Rasagiline is an anti-apoptotic agent which has a positive effect in the treatment of ALS especially if combined with riluzole.…”

Section: Current Therapeutic Approaches and Managementsmentioning

confidence: 99%

Organ on a Chip: A Novel in vitro Biomimetic Strategy in Amyotrophic Lateral Sclerosis (ALS) Modeling

et al. 2022

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Amyotrophic lateral sclerosis is a pernicious neurodegenerative disorder that is associated with the progressive degeneration of motor neurons, the disruption of impulse transmission from motor neurons to muscle cells, and the development of mobility impairments. Clinically, muscle paralysis can spread to other parts of the body. Hence it may have adverse effects on swallowing, speaking, and even breathing, which serves as major problems facing these patients. According to the available evidence, no definite treatment has been found for amyotrophic lateral sclerosis (ALS) that results in a significant outcome, although some pharmacological and non-pharmacological treatments are currently applied that are accompanied by some positive effects. In other words, available therapies are only used to relieve symptoms without any significant treatment effects that highlight the importance of seeking more novel therapies. Unfortunately, the process of discovering new drugs with high therapeutic potential for ALS treatment is fraught with challenges. The lack of a broad view of the disease process from early to late-stage and insufficiency of preclinical studies for providing validated results prior to conducting clinical trials are other reasons for the ALS drug discovery failure. However, increasing the combined application of different fields of regenerative medicine, especially tissue engineering and stem cell therapy can be considered as a step forward to develop more novel technologies. For instance, organ on a chip is one of these technologies that can provide a platform to promote a comprehensive understanding of neuromuscular junction biology and screen candidate drugs for ALS in combination with pluripotent stem cells (PSCs). The structure of this technology is based on the use of essential components such as iPSC- derived motor neurons and iPSC-derived skeletal muscle cells on a single miniaturized chip for ALS modeling. Accordingly, an organ on a chip not only can mimic ALS complexities but also can be considered as a more cost-effective and time-saving disease modeling platform in comparison with others. Hence, it can be concluded that lab on a chip can make a major contribution as a biomimetic micro-physiological system in the treatment of neurodegenerative disorders such as ALS.

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“…The first trial focused on the nasal epithelium and adenovirus vectors containing the CFTR gene was used in an attempt to restore CFTR function (1,(94)(95)(96)(97). The rationale behind this method was to restore the dysfunctional gene or to supplement the patient with the corrected version of the protein prior to irreversible damage (95,98,99). For this technique, the DNA has to penetrate the nucleus to be transcribed, which is the major barrier in gene therapy.…”

Section: Clinical Applications Of Cf-associated Moleculesmentioning

confidence: 99%

Research advances in molecular mechanisms underlying the pathogenesis of cystic fibrosis: From technical improvement to clinical applications (Review)

Tao

Sui

et al. 2020

Mol Med Rep

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Cystic fibrosis (CF) is a chronic disease causing severe impairment to the respiratory system and digestive tracts. Currently, CF is incurable. As an autosomal recessive disorder, the morbidity of CF is significantly higher among Caucasians of European descent, whereas it is less pervasive among African and Asian populations. The disease is caused by identical mutations (homozygosity) or different mutations (heterozygosity) of an autosomal recessive mutation at position 7q31.2-q31.1 of chromosome 7. Diagnostic criteria and guidelines work concurrently with laboratory detection to facilitate precise CF detection. With technological advances, the understanding of CF pathogenesis has reached an unprecedented level, allowing for increasingly precise carrier screening, more effective early stage CF intervention and improved prognostic outcomes. These advances significantly increase the life quality and expectancy of patients with CF. Given the numerous improvements in the field of CF, the current review summarized the technical advances in the study of the molecular mechanisms underlying CF, as well as how these improvements facilitate the clinical outcomes of CF. Furthermore, challenges and obstacles to overcome are discussed.

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The Horizon of Gene Therapy in Modern Medicine: Advances and Challenges

Cited by 25 publications

References 106 publications

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

Organ on a Chip: A Novel in vitro Biomimetic Strategy in Amyotrophic Lateral Sclerosis (ALS) Modeling

Research advances in molecular mechanisms underlying the pathogenesis of cystic fibrosis: From technical improvement to clinical applications (Review)

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