Gene therapy: Myth or reality?

Fischer, Alain

doi:10.1016/j.crvi.2016.04.011

Cited by 6 publications

(5 citation statements)

References 31 publications

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“…Fourth, genetic counseling of the relatives is only relevant if a diagnosis is at hand. Finally, molecular diagnosis promotes new treatment modalities either based on modification of the signaling pathway in which the mutated gene product is involved or by gene therapy or gene editing (85, 86). Nevertheless, a molecular diagnosis comes at a cost.…”

Section: The Thin Line Between Diagnostic and Research Settingsmentioning

confidence: 99%

Exome and genome sequencing for inborn errors of immunity

Meyts

Bosch

Bolze

et al. 2016

Journal of Allergy and Clinical Immunology

166

148

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The advent of next generation sequencing (NGS) in 2010 has transformed medicine and particularly the growing field of monogenic inborn errors of immunity, including primary immunodeficiencies (PID). NGS has facilitated the discovery of novel disease-causing genes and the genetic diagnosis of patients with PID. Whole-exome sequencing (WES) is presently the most cost-effective approach for PID research and diagnostics, though whole genome sequencing (WGS) offers several advantages. The scientific or diagnostic challenge consists in selecting one or two candidate variants among thousands of NGS calls. Variant- and gene-level computational methods as well as immunological hypotheses can help to narrow down this genome-wide search. The key to success is a well-informed genetic hypothesis on three key aspects: mode of inheritance, clinical penetrance, and genetic heterogeneity of the condition. This determines the search strategy and the frequency cut-offs for candidate alleles. Subsequent functional validation of the disease-causing effect of the candidate variant is critical. Even the most up-to-date dry lab cannot clinch this validation without a seasoned wet lab. The multifariousness of variations entails an experimental rigor even greater than traditional Sanger sequencing-based approaches, in order not to assign PID to false positives. Finding the needle in the haystack takes patience, prudence, and discernment.

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Section: The Thin Line Between Diagnostic and Research Settingsmentioning

confidence: 99%

Exome and genome sequencing for inborn errors of immunity

Meyts

Bosch

Bolze

et al. 2016

Journal of Allergy and Clinical Immunology

166

148

View full text Add to dashboard Cite

show abstract

“…The domain of gene therapy has a history spanning two decades, tracing its roots in the late 1980s when gene manipulation in mammalian cells was first explored [154][155][156]. Around the year 2000, gene therapy achieved its initial breakthroughs, particularly in the highly specialised domain of addressing severe inherited T-cell immune deficiencies through ex vivo gene transfer into hematopoietic stem (HS) or progenitor cells (C) [157]. The possible healing benefits of PEDF have been assessed in lentiviral gene transfer models.…”

Section: Molecular and Gene Therapies With Pedf In Cancermentioning

confidence: 99%

The Various Roles of PEDF in Cancer

Elmi,

Dass,

Dass

2024

Cancers

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Pigment epithelium-derived factor (PEDF) is a natural immunomodulator, anti-inflammatory, anti-angiogenic, anti-tumour growth and anti-metastasis factor, which can enhance tumour response to PEDF but can also conversely have pro-cancerous effects. Inflammation is a major cause of cancer, and it has been proven that PEDF has anti-inflammatory properties. PEDF’s functional activity can be investigated through measuring metastatic and metabolic biomarkers that will be discussed in this review.

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“…Carriers are usually genetically engineered vectors, responsible to deliver the corrected gene and its expression within humans at certain levels, depending on the disease [ 112 ]. Gene therapy has been used with great success to a variety of immunodeficiencies, and as expected, its application has been widely extended to other chronic inherited diseases, including β-type hemoglobinopathies [ 113 ].…”

Section: Gene Therapy For Hemoglobinopathiesmentioning

confidence: 99%

Genome-based therapeutic interventions for β-type hemoglobinopathies

et al. 2021

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For decades, various strategies have been proposed to solve the enigma of hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in terms of effectiveness and safety. So far, the most prevalent and promising treatment options for patients with β-types hemoglobinopathies, among others, predominantly include drug treatment and gene therapy. Despite the significant improvements of such interventions to the patient’s quality of life, a variable response has been demonstrated among different groups of patients and populations. This is essentially due to the complexity of the disease and other genetic factors. In recent years, a more in-depth understanding of the molecular basis of the β-type hemoglobinopathies has led to significant upgrades to the current technologies, as well as the addition of new ones attempting to elucidate these barriers. Therefore, the purpose of this article is to shed light on pharmacogenomics, gene addition, and genome editing technologies, and consequently, their potential use as direct and indirect genome-based interventions, in different strategies, referring to drug and gene therapy. Furthermore, all the latest progress, updates, and scientific achievements for patients with β-type hemoglobinopathies will be described in detail.

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Gene therapy: Myth or reality?

Cited by 6 publications

References 31 publications

Exome and genome sequencing for inborn errors of immunity

Exome and genome sequencing for inborn errors of immunity

The Various Roles of PEDF in Cancer

Genome-based therapeutic interventions for β-type hemoglobinopathies

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