Published in: First Personal Medical Congress
COI code: IPMCMED01_012
Paper Language: English
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Authors Advances in personalized medicine in the ALS researchReza Rofougaran - Förste forskningsassistent, Dept. of Phamacology and Clinical Neuroscience, Umeå University, Sweden
Abstract:Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that eventually leads to the death of motor neurons and fatal paralysis. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others. Importantly, the genetic and phenotypic heterogeneity of ALS leads to a variety of responses to similar treatment regimens. The application of personalized medicine in ALS first requires genetic screening among ALS patients. As better drugs become available, it will be important to take into account the genetic profile status of the patient to determine if individuals with certain mutations would respond better to particular treatments. The genetic screening has other advantage in which it is possible to study the connections between gene modifiers with age of onset and disease progression in ALS populations. The recent study that conducted at Umeå university showed, depending on the mutation, the progression rates, distribution, end-stage SOD1 aggregate levels, and histopathology were differed in ALS mice model. These results will be discussed. Next generation sequencing (NGS) technologies have emerged as a powerful tool for the genetic screening of causative mutations and subgrouping of ALS patients. In this section, I will present some recent results. In the presentation, in the context of personalized medicine, I will also discuss more about patient-derived fibroblast lines expressing different mutant SOD1 as a tool to study the role of misfolding SOD1 in the ALS pathogenesis. I consider that gene therapy has great potential for personalized medicine approaches in ALS, either by antisense oligonucleotide, small interference RNA or any other method such as antibodies targeting pathological proteins. These techniques have already been tested and appear to be effective in SOD1, TDP-43, C9ORF72 and FUS animal models. I will review application of gene therapies relevant in personalized medicine approach in the ALS research.
COI code: IPMCMED01_012
how to cite to this paper:If you want to refer to this article in your research, you can easily use the following in the resources and references section:
Rofougaran, Reza, 2016, Advances in personalized medicine in the ALS research, First Personal Medical Congress, تهران, دانشگاه علوم پزشكي ايران - پژوهشكده ملي مهندسي ژنتيك و زيست فناوري ايران، مركز همكاري هاي فناوري و نوآوري هاي رياست جمهوري, https://www.civilica.com/Paper-IPMCMED01-IPMCMED01_012.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Rofougaran, Reza, 2016)
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