Genomics and Transcriptomics Research in Medicine

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Genetics and Genomics".

Deadline for manuscript submissions: closed (29 December 2023) | Viewed by 1368

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Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece
Interests: genomics; molecular biology; epitranscriptomics; biochemistry
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Genomics and transcriptomics research has revolutionized medicine by providing insights into the genetic and molecular basis of diseases. Genomics research involves the study of an individual's genetic makeup, including identifying genetic variations that may increase the risk of developing certain diseases. Transcriptomics research, on the other hand, focuses on the expression of genes and how they are regulated in different diseases. In medicine, genomics and transcriptomics research has led to the development of personalized medicine, which involves tailoring treatment strategies to each individual patient based on their unique genetic and molecular characteristics.

One major application of genomics and transcriptomics research in medicine is in cancer diagnosis and treatment. By analyzing the genetic and molecular characteristics of tumors, researchers can identify subtypes of cancer that may respond differently to treatment, as well as predict the likelihood of cancer recurrence and metastasis. This has led to the development of targeted therapies that specifically target cancer cells based on their genetic and molecular characteristics.

Genomics and transcriptomics research has also led to advances in the diagnosis and treatment of genetic disorders and diseases, including cardiovascular disease, diabetes, and Alzheimer's disease. By identifying the genetic and molecular factors that contribute to these diseases, researchers can develop new treatment strategies that target the underlying mechanisms of the disease.

Overall, genomics and transcriptomics research is transforming medicine by providing new insights into the genetic and molecular basis of disease. As this research continues to advance and become more widely available, we can expect to see even more personalized and effective approaches to disease diagnosis and treatment.

Dr. Panagiotis G. Adamopoulos
Guest Editor

Manuscript Submission Information

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Keywords

  • cancer genomics
  • transcriptomics
  • personalized medicine
  • targeted therapies
  • genetic mutations
  • cancer diagnosis
  • genetic disorders

Published Papers (1 paper)

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Research

18 pages, 9824 KiB  
Article
De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes
by Yann Loe-Mie, Christine Plançon, Caroline Dubertret, Takeo Yoshikawa, Binnaz Yalcin, Stephan C. Collins, Anne Boland, Jean-François Deleuze, Philip Gorwood, Dalila Benmessaoud, Michel Simonneau and Aude-Marie Lepagnol-Bestel
Life 2024, 14(2), 244; https://doi.org/10.3390/life14020244 - 9 Feb 2024
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Abstract
Schizophrenia (SZ) is a heterogeneous and debilitating psychiatric disorder with a strong genetic component. To elucidate functional networks perturbed in schizophrenia, we analysed a large dataset of whole-genome studies that identified SNVs, CNVs, and a multi-stage schizophrenia genome-wide association study. Our analysis identified [...] Read more.
Schizophrenia (SZ) is a heterogeneous and debilitating psychiatric disorder with a strong genetic component. To elucidate functional networks perturbed in schizophrenia, we analysed a large dataset of whole-genome studies that identified SNVs, CNVs, and a multi-stage schizophrenia genome-wide association study. Our analysis identified three subclusters that are interrelated and with small overlaps: GO:0007017~Microtubule-Based Process, GO:00015629~Actin Cytoskeleton, and GO:0007268~SynapticTransmission. We next analysed three distinct trio cohorts of 75 SZ Algerian, 45 SZ French, and 61 SZ Japanese patients. We performed Illumina HiSeq whole-exome sequencing and identified de novo mutations using a Bayesian approach. We validated 88 de novo mutations by Sanger sequencing: 35 in French, 21 in Algerian, and 32 in Japanese SZ patients. These 88 de novo mutations exhibited an enrichment in genes encoding proteins related to GO:0051015~actin filament binding (p = 0.0011) using David, and enrichments in GO: 0003774~transport (p = 0.019) and GO:0003729~mRNA binding (p = 0.010) using Amigo. One of these de novo variant was found in CORO1C coding sequence. We studied Coro1c haploinsufficiency in a Coro1c+/− mouse and found defects in the corpus callosum. These results could motivate future studies of the mechanisms surrounding genes encoding proteins involved in transport and the cytoskeleton, with the goal of developing therapeutic intervention strategies for a subset of SZ cases. Full article
(This article belongs to the Special Issue Genomics and Transcriptomics Research in Medicine)
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