Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: May 16, 2022
spot light Spotlight

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.


news Latest News and Publications
COVID-19 Vaccines and SARS-CoV-2 Transmission in the Era of New Variants: A Review and Perspective. External Web Site Icon
Marcelin Jasmine R, et al. Open forum infectious diseases 2022 0 0. (5) ofac124
Emergence and spread of a sub-lineage of SARS-CoV-2 Alpha variant B.1.1.7 in Europe, and with further evolution of spike mutation accumulations shared with the Beta and Gamma variants. External Web Site Icon
Stadtmüller Marlena, et al. Virus evolution 2022 0 0. (1) veac010
Genetic differentiation and diversity of SARS-CoV-2 omicron variant in Its early outbreak. External Web Site Icon
Weng Shenghui, et al. Biosafety and health 2022 0 0.
Is There Less Alteration of Smell Sensation in Patients With Omicron SARS-CoV-2 Variant Infection? External Web Site Icon
Rodriguez-Sevilla Juan Jose, et al. Frontiers in medicine 2022 0 0. 852998
Monoclonal Antibody Therapy in Kidney Transplant Recipients With Delta and Omicron Variants of SARS-CoV-2: A Single-Center Case Series. External Web Site Icon
Fernandes Guillaume, et al. Kidney medicine 2022 0 0. 100470
Multiclass Convolution Neural Network for Classification of COVID-19 CT Images. External Web Site Icon
Woan Ching Serena Low, et al. Computational intelligence and neuroscience 2022 0 0. 9167707
Searching and designing potential inhibitors for SARS-CoV-2 Mpro from natural sources using atomistic and deep-learning calculations. External Web Site Icon
Tam Nguyen Minh, et al. RSC advances 2022 0 0. (61) 38495-38504
Sickle Cell Disease and COVID-19 Infection: Importance of COVID-19 Testing and Approach to Management. External Web Site Icon
Umar Zaryab, et al. Cureus 2022 0 0. (3) e23604
COVID-19 Infection in Patients with Humoral Immunodeficiency: A Case Series and Literature Review. External Web Site Icon
Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2022 0 0. 21526575221096044
Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report. External Web Site Icon
Chung Ming Hin, et al. Frontiers in pediatrics 2022 0 0. 794110

More


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

TOP