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  • Open Access


    Single and Mitochondrial Gene Inheritance Disorder Prediction Using Machine Learning

    Muhammad Umar Nasir1, Muhammad Adnan Khan1,2, Muhammad Zubair3, Taher M. Ghazal4,5, Raed A. Said6, Hussam Al Hamadi7,*

    CMC-Computers, Materials & Continua, Vol.73, No.1, pp. 953-963, 2022, DOI:10.32604/cmc.2022.028958

    Abstract One of the most difficult jobs in the post-genomic age is identifying a genetic disease from a massive amount of genetic data. Furthermore, the complicated genetic disease has a very diverse genotype, making it challenging to find genetic markers. This is a challenging process since it must be completed effectively and efficiently. This research article focuses largely on which patients are more likely to have a genetic disorder based on numerous medical parameters. Using the patient’s medical history, we used a genetic disease prediction algorithm that predicts if the patient is likely to be diagnosed… More >

  • Open Access


    AAV-based gene therapy approaches for genetic forms of tauopathies and related neurogenetic disorders


    BIOCELL, Vol.46, No.4, pp. 847-853, 2022, DOI:10.32604/biocell.2022.018144

    Abstract Tauopathies comprise a spectrum of genetic and sporadic neurodegenerative diseases mainly characterized by the presence of hyperphosphorylated TAU protein aggregations in neurons or glia. Gene therapy, in particular adeno-associated virus (AAV)-based, is an effective medical approach for difficult-to-treat genetic diseases for which there are no convincing traditional therapies, such as tauopathies. Employing AAV-based gene therapy to treat, in particular, genetic tauopathies has many potential therapeutic benefits, but also drawbacks which need to be addressed in order to successfully and efficiently adapt this still unconventional therapy for the various types of tauopathies. In this Viewpoint, we More >

  • Open Access


    Kabuki-Syndrome and Congenital Heart Disease—A Twenty-Year Institutional Experience

    Reghan Conrey1,*, Sebastian Tume2, Carlos Bonilla-Ramirez3, Seema Lalani4, Dean McKenzie3,#, Marc Anders2,#

    Congenital Heart Disease, Vol.16, No.2, pp. 171-181, 2021, DOI:10.32604/CHD.2021.014409

    Abstract Background: Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality. Surgical outcomes and postoperative courses following congenital heart surgery in patients with Kabuki-Syndrome (KS) have not been well studied. Objectives: The purpose of this study was to describe the postoperative courses and associated outcomes in the largest set of KS patients undergoing congenital heart surgery to date. Methods: Patients with a confirmed molecular diagnosis of KS and a diagnosis of a CHD admitted to Texas Children’s Hospital between January 1, 2000 and January 1, 2020… More >

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