Translational Research in Genetics and Genomics

Contents:

  • Journal of Translational Genetics and Genomics
  • Translational Research
  • Top Level TCD Links
  • Translational Research in Genetics and Genomics
  • References

    • Evidence suggests that sporadic parathyroid carcinomas rarely, if ever, evolve through an identifiable benign tumor intermediate. A few genes have been directly implicated in the pathogenesis of sporadic parathyroid cancer; somatic and less common germline mutations in the CDC73 tumor suppressor gene are the most frequent finding and the only firmly established molecular drivers of parathyroid cancer.

    There are many coronary artery disease CAD cases in which the explanation for its development cannot be readily explained by traditional risk factors. A systematic review of the literature was conducted to address the relationship between ADAMTS7 polymorphism and atherosclerosis.

    Journal of Translational Genetics and Genomics

    The single nucleotide polymorphs SNPs included rs, rs, rs, rs, for coronary atherosclerosis and rs, rs and rs for coronary artery calcification. The most consistent evidence for an association with coronary artery stenosis on coronary angiogram was with ADAMTS7 rs risk allele A vs. Whole exome sequencing technology has permitted the discovery of genes that cause Mendelian disorders and was used in clinical laboratories.

    However, identifying the disease causing variant s for a specific disorder from thousands of variants is challenging. In this study, we describe the In this study, we describe the Cincinnati Clinical Exome Pipeline Analysis Suite CCEPAS that utilizes a four-level framework into one analysis procedure that rapidly identify the most likely causative gene variants to establish a clinical diagnosis. We applied this pipeline to clinical cases by first translating phenotypic information into candidate gene lists using Pheno2Gene.

    This list of candidate genes was given to the VarEval algorithm to guide variant filtering and prioritization. Finally, a short list of filtered variants was produced for clinical interpretation. We demonstrated the development and implementation of CCEPAS to aid in the variant prioritization and filtering to produce a short list of candidate variants for clinical diagnosis. Its unique Pheno2Gene tool utilized an extensive list of resources and provided an accurate, sensitive and specific way to obtain gene lists from clinical feature keywords.

    X chromosome inactivation XCI is a strategy used by mammals to silence genes along one of the two female X chromosomes and equilibrate expression dosage between XY males and XX females. This epigenetically-inherited silencing is established during early embryonic development and maintained This epigenetically-inherited silencing is established during early embryonic development and maintained thereafter through cell divisions. Seeding of multiple repressive epigenetic marks along the inactive X chromosome Xi makes inactivation extremely robust and difficult to reverse upon single genetic perturbations.

    Reversal of XCI has, however, been observed when somatic cells are reprogrammed towards pluripotency, and in vitro reprogramming techniques have been used in recent years to dissect Xi gene reactivation mechanisms. These studies pave the way for developing novel therapeutic approaches for X-linked diseases.

    Here, the author reviews Xi reactivation during pluripotent reprogramming of mouse and human somatic cells, highlight recent advances and species-specific differences, and discuss the relevance for human diseases. Atopic dermatitis AD is a chronic and relapsing inflammatory skin disease, generally the first clinical manifestation of atopy and the start of atopic march.

    Translational Research

    Effective treatment of AD could potentially interrupt the progression of atopic march. MicroRNAs miRNAs , a recently described class of gene expression regulators in inflammatory conditions, affect expression of numerous proteins.

    Module 11: Association Genetics - Conifer Translational Genomics Network

    The role of miRNAs has been investigated in several atopic conditions, including asthma, eosinophilic esophagitis, allergic rhinitis as well as atopic dermatitis. They have been shown to be involved in the morphogenesis of skin. The therapeutic effects of inhibition or overexpression of miRNAs have been demonstrated in murine models.

    Top Level TCD Links

    In this new book, noted geneticist and veteran OUP author, Moyra Smith, present a comprehensive critical review of the translation of genetic. There are varying definitions of translational research [2] that have been . Khoury M.J. Translational research in cancer genetics: the road less.

    Considering their role as master switches of complex cellular processes, they could be potential therapeutic targets for inflammatory skin conditions including atopic dermatitis. MiRNAs can be detected in different cell-free body fluids, such as serum, plasma, urine and saliva, raising the obvious question whether they can be used as biomarkers of disease. This review article summarizes what is known so far abut miRNAs and atopic dermatitis. The dosage compensation in placental mammals is achieved by silencing of one copy of the X chromosomes in a female cell by a process called X chromosome inactivation XCI.

    XCI ensures equal gene dosage for X-linked genes between the two genders. Although the choice of X chromosome to be silenced Although the choice of X chromosome to be silenced is random, once the silencing of the X chromosome has been established, this process is highly regulated and maintained throughout subsequent cell divisions.

    A long non-coding RNA, Xist, and its interacting proteins execute this multistep process, but several of these regulatory proteins remain unidentified.

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    2. Translational Research in Genetics and Genomics - Moyra Smith - Oxford University Press.
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    Recent technological advances based on the genetic and proteomics screening have identified several new regulatory factors as well as dissected the molecular details of XCI regulation. Moreover, identification of regulators of XCI offers an opportunity to explore reactivation of the inactive X chromosome Xi as a potential therapeutic strategy to treat X-linked diseases, like Rett syndrome. Here, we summarize recent reports that identified new regulatory proteins and RNA species playing a crucial role in Xist localization and spreading, recruitment of silencing machinery to the Xi, Xist interaction with chromatin, and structural organization of the Xi in the nuclei.

    Review Open Access Challenges in implementing genomic medicine: Dorkins Many important medical conditions may be the result of an inherited mutation in one of a number of different genes. Read more Many important medical conditions may be the result of an inherited mutation in one of a number of different genes. Back This article belongs to the Special Issue Personalized genomic medicine: Original Article Open Access Which came first: Review Open Access Biomarkers and therapeutic targets: Lambert, Punit Jhaveri, Pooja Jhaveri Eosinophilic esophagitis EoE is a chronic inflammatory disease that is increasingly recognized as the cause of common gastrointestinal symptoms including dysphagia, chest and abdominal pain, heartburn, food impaction, and food refusal in children and adults.

    Read more Eosinophilic esophagitis EoE is a chronic inflammatory disease that is increasingly recognized as the cause of common gastrointestinal symptoms including dysphagia, chest and abdominal pain, heartburn, food impaction, and food refusal in children and adults. Hogendoorn Ewing sarcoma EWS is a bone- and soft tissue tumour affecting primarily children and young adults.

    Read more Ewing sarcoma EWS is a bone- and soft tissue tumour affecting primarily children and young adults. Read more The mitochondrion is a unique organelle that predominantly functions to produce useful cellular energy in the form of adenosine triphosphate ATP.

    Translational Research in Genetics and Genomics

    Read more Leukocyte adhesion deficiency type 1 LAD-I characterized by immune-deficiency and leukocytosis is rare in infant patients. Sanoja, Hua Li, F. Jay Fricker, Stephen F.

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    Read more Parathyroid carcinoma is a rare but clinically-aggressive tumor. Read more X chromosome inactivation XCI is a strategy used by mammals to silence genes along one of the two female X chromosomes and equilibrate expression dosage between XY males and XX females. Read more Atopic dermatitis AD is a chronic and relapsing inflammatory skin disease, generally the first clinical manifestation of atopy and the start of atopic march.

    Review Open Access Novel molecular players of X chromosome inactivation: Read more The dosage compensation in placental mammals is achieved by silencing of one copy of the X chromosomes in a female cell by a process called X chromosome inactivation XCI. Letter to Editor Open Access Gene dosage defects in primary immunodeficiencies and related disorders: Editorial Open Access Awakening the sleeping giant: Once a promising intervention is identified in genomics, critical research is needed in order to determine if the application should be recommended for routine use in a health care setting.

    Behavioral and communication research also are needed to determine patterns of utilization and patient communication. Comparative effectiveness research CER also is needed to determine the clinical validity and utility of the applications, in comparison with existing practice. Additionally, health services and implementation research can track integration of tests in practice and measure disparities in access [13].

    Additionally, multi-level research should also be performed to evaluate how an individual's external environment family dynamics, neighborhood factors, state and federal policies, etc. If we continue to perform T0-T1 research without also addressing behavioral, CER, implementation, utilization, surveillance, and multi-level research, the promise of genomic medicine for improving health and preventing disease will not be fulfilled.

    National Center for Biotechnology Information , U. Journal List Appl Transl Genom v. Published online Sep Schully and Muin J. This article has been cited by other articles in PMC. Applied and Translational Genomics website. Clinical research at a crossroads: Charting a course for genomic medicine from base pairs to bedside. Beyond base pairs to bedside: The continuum of translation research in genomic medicine: Translational research in cancer genetics: Prioritizing genomic applications for action by level of evidence: How can we stimulate translational research in cancer genomics beyond bench to bedside?

    Horizon scanning for translational genomic research beyond bench to bedside. Translation of genetics research to clinical medicine: Are randomized trials obsolete or more important than ever in the genomic era?

    References

    X chromosome inactivation XCI is a strategy used by mammals to silence genes along one of the two female X chromosomes and equilibrate expression dosage between XY males and XX females. Clinically managed by food avoidance, steroid therapy, recurring endoscopic evaluations and dilations as needed, eosinophilic esophagitis is a poorly understood disease process with limited therapies and even fewer diagnostic tools to predict and surveil active inflammation. Considering their role as master switches of complex cellular processes, they could be potential therapeutic targets for inflammatory skin conditions including atopic dermatitis. Published online Sep Mismatch Peter Gluckman and Mark Hanson. Interestingly, the field of gene therapy may provide an opportunity for effective therapeutic intervention by introducing a genetic payload to a particular cellular gene to induce the correction.

    Comparative effectiveness research in cancer genomics and precision medicine: Multilevel research and the challenges of implementing genomic medicine. Support Center Support Center.