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Treatments and trials for the fetal patient: imposing the burdens of enthusiasm?
Published in Dagmar Schmitz, Angus Clarke, Wybo Dondorp, The Fetus as a Patient, 2018
The last forty years have seen immense strides in the understanding of human genetics and the genetic contribution to disease. This began with the mapping (localization) and then the cloning (isolation) and sequencing of small numbers of disease genes. The Human Genome Project, that determined the DNA base sequence of all human chromosomes, then changed the pace of disease gene identification. Many disease-relevant genes have now been sequenced, or their previously known gene sequence has now been recognized as associated with disease, and our understanding of the mechanisms of disease has grown enormously. For example, the mapping and isolation of the gene for Duchenne muscular dystrophy (DMD) enabled the recognition of the dystrophin protein, which has led to massive progress in understanding muscle structure and function in both health and disease. However, while real progress has been made towards developing treatments for DMD, there have not yet been many comparable cases of therapeutic advance grounded in a knowledge of the genetic basis of the disease. There is a frustratingly long time lag between determining the sequence of a disease gene and intervening with an effective treatment designed on the basis of an improved understanding of the disease mechanism.
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
Published in Neurological Research, 2021
Safdar Abbas, Beatrice Brugger, Muhammad Zubair, Sana Gul, Jasmin Blatterer, Julian Wenninger, Khurram Rehman, Benjamin Tatrai, Muzammil Ahmad Khan, Christian Windpassinger
The genetic analysis was performed by following the strategy of positional cloning approach. In order to identify the disease linked homozygous-by-descend (HBD) region, genome-wide SNP genotyping was performed on three affected individuals (IV-9, V-3 & V-4). The data were analyzed using the HomozygosityMapper tool [18]. For disease gene identification, whole exome sequencing was performed for two affected individuals (IV-9 and V-3). The exome variant file (i.e. VCF) was annotated through online wANNOVAR tool [19]. Primarily, the exome data was selectively analyzed for the common HBD regions and variants filtering was performed for reported HSP genes within the HBD interval. The candidate variants were further analyzed using in silico prediction tools such as Polyphen-2, I-mutant2, Mutationtaster and SIFT for pathogenicity determination.
Identification of disease genes and assessment of eye-related diseases caused by disease genes using JMFC and GDLNN
Published in Computer Methods in Biomechanics and Biomedical Engineering, 2022
Samar Jyoti Saikia, S. R. Nirmala
Table 2 showcases the proposed technique’s comparison with the prevailing methods namely tensor factorization with RNA-seq (TFR) (Jiang 2017), PEGPUL (Jowkar and Mansoori 2016) and also HMM-centered positive-unlabeled (PU) learning (Nikdelfaz and Jalili 2018) that are stated in relative work segment concerning ‘3’ metrics F-measure, precision and recall. Table 2 results showcase that while analogized with the existent techniques, the proposed technique operates efficiently in favor of disease gene identification.