Monogenic Disorders: An Overview.

Babar., Usman

doi:10.21474/ijar01/3294

Cited by 5 publications

(4 citation statements)

References 20 publications

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“…As explained previously, the share of the human population affected by monogenetic or relatively simple polygenetic disorders is quite limited (Aslamkhan, 2015;Babar, 2017). If RGS aims at moving towards multifactorial diseases and traits, it will require a better understanding of the complex and flexible interaction between genomics, environmental factors, and epigenetic alterations.…”

Section: Discussionmentioning

confidence: 99%

“…The exome makes up only 1.5% of the whole genome, but it contains all protein-coding genes. It has been estimated that more than 10,000 monogenic disorders affect around one percent of humans at birth, and about two percent of couples carry a single gene variation that could result in a child with a severe genetic disorder (Aslamkhan, 2015;Babar, 2017;Nuffield Council on Bioethics, 2018). However, the detection pace of new monogenic disorders is declining while, in contrast, detection pace of polygenic disorders and multifactorial traits, which affect a much larger share of the population, is increasing (Nuffield Council on Bioethics, 2018;…”

Section: Technical Factorsmentioning

confidence: 99%

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Contesting the Geneticization Thesis in Human Reproduction: Dealing with Spiral Shaped Processes and Technoscientific Imaginaries

Alón¹,

Guimón²,

Urbanos-Garrido³

2019

Preprint

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This paper questions the potential shift of reproduction towards assisted reproductive technologies due to benefits provided by genetic manipulation of embryos. In order to examine the viability of such a shift and its implications from a regulatory perspective, we relied on two panels of experts from Israel and Spain, using the Delphi method and a series of in-depth interviews. We anticipate, at a first stage, a continuous-steady growth in the use of IVF, supplemented by preimplantation genetic diagnosis and the introduction of CRISPR/Cas. At a second stage, attracting a growing share of fertile people would require developments in genomics. While it is unclear whether these developments will fully materialize, they could be replaced by technoscientific imaginaries generating perceived benefits. We conclude that the regulation of reproductive genetics is becoming more critical and complex. The aim should be to ensure good practices and equity, while providing more information to the public. A broad and inclusive societal debate may overcome the difficulty of drawing a clear line between medical uses and non-medical uses of genetic selection and engineering and may contribute to finding the right balance between allowing autonomous decisions of patients and protecting the public interest.

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Section: Discussionmentioning

confidence: 99%

Section: Technical Factorsmentioning

confidence: 99%

Contesting the Geneticization Thesis in Human Reproduction: Dealing with Spiral Shaped Processes and Technoscientific Imaginaries

Alón¹,

Guimón²,

Urbanos-Garrido³

2019

Preprint

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“…Genetic diseases and phenotypes can manifest as monogenic, polygenic, or complex conditions resulting from a combination of genetic and environmental factors [1–4]. Numerous clinical phenotypes are linked to mutations in specific genes, and disruptions in the regulatory mechanisms governing gene expression can also contribute to these conditions [5–10].…”

Section: Introductionmentioning

confidence: 99%

Unveiling the role of Tdark genes in genetic diseases and phenotypes through bioinformatics-based functional enrichment and network analyses

Kafita,

Dzobo,

Nkhoma

et al. 2024

Preprint

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In recent years, there has been growing interest in understanding the role of dark genes in genetic diseases and phenotypes. Despite their lack of functional characterisation, dark genes account for a significant portion of the human genome and are believed to play a role in regulating gene expression and cellular processes. We investigated the role of dark genes in genetic diseases and phenotypes by conducting integrative network analyses and functional enrichment studies across multiple large-scale molecular datasets. Our investigation revealed a predominant association of both dark and light genes with psoriasis. Furthermore, we found that the transcription factors UBTF and NFE2L2 are potential regulators of both dark and light genes associated with tuberculosis. In contrast, the transcription factors SUZ12 and TP63 are potential regulators of both dark and light genes associated with interstitial cystitis. Further network analysis of dark genes, including CALHM6, HCP5, PRRG4, DDX60L and RASA2, revealed a notably high weighted degree of association with genetic diseases and phenotypes. Moreover, our analysis revealed that numerous genetic diseases and phenotypes, including psoriasis, pick disease, tuberculosis, ulcerative colitis, interstitial cystitis, and Crohn's disease, exhibited shared gene linkages. Additionally, we conducted a protein-protein interaction analysis to reveal 16 dark genes that encode hub proteins, including R3HDM2, RPUSD4, FASTKD5, and MRPL15, that could play a role in many genetic diseases and phenotypes, and are widely expressed across body tissues. Our findings contribute to the understanding of the genetic basis of diseases and provide potential therapeutic targets for future research. Identifying dysregulated dark genes in disease states can lead to new strategies for prevention, diagnosis, and treatment, thus advancing our understanding of disease mechanisms.

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“…Researchers indicated that the genetic mechanism of monogenic traits might not be simple as we thought [6] , and the final phenotype of a monogenic disorder can be an amalgamation of multiple factors to some extent [7] . So far, the pathogenesis remains unknown even in many well-studied Mendelian disorders [8] , [9] , and one of the main reasons is that the genetic interaction of several genes may cause a large portion of the phenotypic variation sometimes [10] , [11] . Since the gene-gene interactions may play a larger role in disease susceptibility than a single gene [12] , more and more research studies have jumped out of the scope of monogenic pathogenicity.…”

Section: Introductionmentioning

confidence: 99%

An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases

Yuan

Zhang

Long

et al. 2022

Computational and Structural Biotechnology Journal

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Monogenic Disorders: An Overview.

Cited by 5 publications

References 20 publications

Contesting the Geneticization Thesis in Human Reproduction: Dealing with Spiral Shaped Processes and Technoscientific Imaginaries

Contesting the Geneticization Thesis in Human Reproduction: Dealing with Spiral Shaped Processes and Technoscientific Imaginaries

Unveiling the role of Tdark genes in genetic diseases and phenotypes through bioinformatics-based functional enrichment and network analyses

An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases

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