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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: May 16, 2022
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Recommendations for whole genome sequencing in diagnostics for rare diseases
E Souche et al, EJHG, May 16, 2022

EuroGentest is a European initiative, aiming to promoting accurate, reliable and high-quality genetic diagnostics across Europe. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri Michela et al. JAMA 2022 4

What is the difference in clinical outcomes among 3 corticosteroid regimens (0.75 mg/kg of daily prednisone, 0.90 mg/kg of daily deflazacort, or 0.75 mg/kg of intermittent prednisone for 10 days on and then 10 days off) as initial treatment for boys with Duchenne muscular dystrophy? This randomized clinical trial included 196 boys with Duchenne muscular dystrophy; the clinical outcome was a global outcome that incorporated a measure of rising from the floor, forced vital capacity, and global satisfaction with treatment assessed over 3 years. Daily prednisone and daily deflazacort resulted in significantly better outcomes compared with intermittent prednisone; there was no significant difference between the 2 daily regimens.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics
VA Yepez et al, Genome Medicine, April 5, 2022

Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. We implemented an automated RNA-seq protocol and a computational workflow with which we analyzed skin fibroblasts of 303 individuals with a suspected mitochondrial disease that previously underwent WES.

Precision Public Health in Action: Enhancing models to predict risk of adverse treatment outcomes in people with hemophilia
CJ Bean et al, CDC Blog Post, March 29, 2022

CDC investigators have developed a genetic inhibitor risk prediction tool hat is based on information about the genetic variant causing a person’s hemophilia, genetic variation in the HLA region and in immune response genes. However, this tool has thus far been evaluated in a relatively small number of people with hemophilia. In this newly funded project, investigators will evaluate the performance of the existing inhibitor risk prediction tool in a diverse patient population. Previous studies of the prediction tool were conducted in populations of non-Hispanic, White persons with hemophilia.

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