scholarly journals Genetic Diseases of the Kidney

2015 ◽  
Vol 8 (1) ◽  
pp. 136-147
Author(s):  
John Foreman
Keyword(s):  
Gene Therapy ◽  
Genetic Testing ◽  
Renal Disease ◽  
Genetic Diseases ◽  
Genetic Mutation ◽  
Renal Diseases ◽  
Genetic Mutations ◽  
Specific Gene ◽  
Number Of Genes ◽  
The Future

The number of genes associated with renal disease is increasing every day and this has led to a clearer understanding of the pathophysiology of renal disease in many disorders. It is also appreciated now that a genetic mutation(s) underlie many renal syndromes. Genetic testing may also offer the possibility to diagnose some renal diseases without the need for a renal biopsy. It also allows the prenatal diagnosis of certain renal diseases in at risk fetuses or identification of potential renal disease before it has become manifest. Finally, identification of a specific gene mutation holds the possibility of correction though gene therapy in the future. It is increasingly clear that many renal disorders in pediatrics are a consequence of genetic mutations. In the future, genetic testing will become as easy and as common as ordering a serum creatinine today.

scholarly journals Healing the Fundamental Unit of Heredity (Gene Therapy): Current Perspective and What the Future Holds

2021 ◽  
Vol 5 (2) ◽  
pp. 62
Author(s):  
Bunga Anggreini Sari ◽  
Azalia Talitha Zahra ◽  
Ganda Purba Tasti ◽  
Ziske Maritska
Keyword(s):  
Gene Therapy ◽  
Cancer Cells ◽  
Genetic Recombination ◽  
Ex Vivo ◽  
Genetic Diseases ◽  
Fundamental Unit ◽  
Embryonic Cells ◽  
Gene Therapy Application ◽  
Wide Range ◽  
The Future

The ability to make precise adjustments to the human genome has been a goal of healing in which gene also introduces as the fundamental unit of heredity, in biomolecular technology in genetic diseases have opened new knowledge such as gene therapy. Gene therapy is a technique to repair DNA where its usage is to treat the malignancy and inherited genetic diseases. Gene therapy is a choice to the genetic cloth that goals to remedy a sickness this is hard to deal with or perhaps has no treatment. Currently, gene remedy is done in approaches to patients, specifically embryonic cells and somatic cells, every in vivo and ex vivo. Moral considerations with modification of the difficulty's cells and oversight of regulation and reagents want to be taken into consideration within the gene therapy project. Applications for using gene remedies have begun to be widely used, which include in case of maximum cancers, coronary heart disorder, infectious sicknesses, and others. Gene therapy has spread to a wide range of applications then go beyond the modification of genetic disorders. Advances in genetic modification of cancer cells and immunity and the use of viruses and bacteria to control cancer cells have resulted in many clinical trials and product developments for cancer treatment. The miracles and blessings of gene therapy are might believe, but even though they are being studied and developed now and, in the future, so that the desire for gene therapy may be even better future.Keywords: gene therapy, genetic recombination, gene therapy application

scholarly journals Cutaneous mosaicisms: concepts, patterns and classifications

2013 ◽  
Vol 88 (4) ◽  
pp. 507-517 ◽  
Author(s):  
Samara Silva Kouzak ◽  
Marcela Sena Teixeira Mendes ◽  
Izelda Maria Carvalho Costa
Keyword(s):  
Gene Therapy ◽  
Genetic Diseases ◽  
Genetic Mutation ◽  
Cell Populations ◽  
Distinct Cell ◽  
Blaschko Lines

A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutaneous mosaicisms usually manifest by specific patterns on the skin and the archetypic pattern is the system of Blaschko lines, but others include checkerboard, phylloid, large patches without midline separation and lateralization. Since 1901, when Blaschko lines were first described, the study of mosasicism has helped to elucidate the behavior of numerous genetic diseases, generating therapeutic perspectives for these pathologies, including the promising gene therapy.

scholarly journals On Retinal Gene Therapy

2016 ◽  
Vol 236 (1) ◽  
pp. 1-7 ◽  
Author(s):  
M. Dominik Fischer
Keyword(s):  
Gene Therapy ◽  
Clinical Trials ◽  
Retinal Degeneration ◽  
Basic Science ◽  
Rare Disorders ◽  
Number Of Genes ◽  
The Future ◽  
Treatment Paradigm ◽  
New Treatment ◽  
Retinal Gene Therapy

Mutations in a large number of genes cause retinal degeneration and blindness with no cure currently available. Retinal gene therapy has evolved over the last decades to become a promising new treatment paradigm for these rare disorders. This article reflects on the ideas and concepts arising from basic science towards the translation of retinal gene therapy into the clinical realm. It describes the advances and present thinking on the efficacy of current clinical trials and discusses potential roadblocks and solutions for the future of retinal gene therapy.

Molecular imaging of gene therapy. The future in Parkinson's disease therapy?

2005 ◽  
Vol 32 (S 4) ◽  
Author(s):  
A.H Jacobs ◽  
R Hilker ◽  
L Burghaus ◽  
W.D Heiss
Keyword(s):  
Parkinson’S Disease ◽  
Gene Therapy ◽  
Parkinson's Disease ◽  
Molecular Imaging ◽  
Disease Therapy ◽  
The Future

SiRNA technology, the gene therapy of the future?

2008 ◽  
Vol 149 (4) ◽  
pp. 153-159 ◽  
Author(s):  
Zsuzsanna Rácz ◽  
Péter Hamar
Keyword(s):  
Gene Therapy ◽  
Short Interfering Rna ◽  
The Future ◽  
Interfering Rna

A genetikában új korszak kezdődött 17 éve, amikor a petúniában felfedezték a koszuppressziót. Később a koszuppressziót azonosították a növényekben és alacsonyabb rendű eukariótákban megfigyelt RNS-interferenciával (RNSi). Bár a növényekben ez ősi vírusellenes gazdaszervezeti védekezőmechanizmus, emlősökben az RNSi élettani szerepe még nincs teljesen tisztázva. Az RNSi-t rövid kettős szálú interferáló RNS-ek (short interfering RNA, siRNS) irányítják. A jelen cikkben összefoglaljuk az RNSi történetét és mechanizmusát, az siRNS-ek szerkezete és hatékonysága közötti összefüggéseket, a célsejtbe való bejuttatás virális és nem virális módjait. Az siRNS-ek klinikai alkalmazásának legfontosabb akadálya az in vivo alkalmazás. Bár a hidrodinamikus kezelés állatokban hatékony, embereknél nem alkalmazható. Lehetőséget jelent viszont a szervspecifikus katéterezés. A szintetizált siRNS-ek ismert mellékhatásait szintén tárgyaljuk. Bár a génterápia ezen új területén számos problémával kell szembenézni, a sikeres in vitro és in vivo kísérletek reményt jelentenek emberi betegségek siRNS-sel történő kezelésére.

Genetic Engineering of AAV Capsid Gene for Gene Therapy Application

2020 ◽  
Vol 20 (5) ◽  
pp. 321-332
Author(s):  
Yunbo Liu ◽  
Xu Zhang ◽  
Lin Yang
Keyword(s):  
Gene Therapy ◽  
Neutralizing Antibodies ◽  
Human Subjects ◽  
Genetic Diseases ◽  
Capsid Gene ◽  
Human Populations ◽  
Stable Gene ◽  
Efficient Gene ◽  
Gene Therapy Application

Adeno-associated virus (AAV) is a promising vector for in vivo gene therapy because of its excellent safety profile and ability to mediate stable gene expression in human subjects. However, there are still numerous challenges that need to be resolved before this gene delivery vehicle is used in clinical applications, such as the inability of AAV to effectively target specific tissues, preexisting neutralizing antibodies in human populations, and a limited AAV packaging capacity. Over the past two decades, much genetic modification work has been performed with the AAV capsid gene, resulting in a large number of variants with modified characteristics, rendering AAV a versatile vector for more efficient gene therapy applications for different genetic diseases.

Artificial RNA Editing with ADAR for Gene Therapy

2020 ◽  
Vol 20 (1) ◽  
pp. 44-54 ◽  
Author(s):  
Sonali Bhakta ◽  
Toshifumi Tsukahara
Keyword(s):  
Gene Therapy ◽  
Genetic Code ◽  
Molecular Mechanism ◽  
Rna Editing ◽  
Comparative Studies ◽  
Genetic Diseases ◽  
Adenosine Deaminases ◽  
Family Protein ◽  
Hydrolytic Deamination

Editing mutated genes is a potential way for the treatment of genetic diseases. G-to-A mutations are common in mammals and can be treated by adenosine-to-inosine (A-to-I) editing, a type of substitutional RNA editing. The molecular mechanism of A-to-I editing involves the hydrolytic deamination of adenosine to an inosine base; this reaction is mediated by RNA-specific deaminases, adenosine deaminases acting on RNA (ADARs), family protein. Here, we review recent findings regarding the application of ADARs to restoring the genetic code along with different approaches involved in the process of artificial RNA editing by ADAR. We have also addressed comparative studies of various isoforms of ADARs. Therefore, we will try to provide a detailed overview of the artificial RNA editing and the role of ADAR with a focus on the enzymatic site directed A-to-I editing.

Sign in / Sign up

Export Citation Format

Share Document