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: Jul 29, 2022
spot light Spotlight

Supporting undiagnosed participants when clinical genomics studies end.
Halley Meghan C et al. Nature genetics 2022 7

Many large research initiatives have cumulatively enrolled thousands of patients with a range of complex medical issues but no clear genetic etiology. However, it is unclear how researchers, institutions and funders should manage the data and relationships with those participants who remain undiagnosed when these studies end. In this Comment, we outline the current literature relevant to post-study obligations in clinical genomics research and discuss the application of current guidelines to research with undiagnosed participants.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
MJ Owen et al, Nat Comm, July 26, 2022

While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for genetic disease diagnosis and acute management guidance. Diagnosis is achieved in 13.5?h by expedited whole genome sequencing, with superior analytic performance for structural and copy number variants

Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review.
Raznahan Armin et al. JAMA psychiatry 2022 6

Rare genetic disorders modulating gene expression—as exemplified by gene dosage disorders (GDDs)—represent a collectively common set of high-risk factors for neuropsychiatric illness. Research on GDDs is rapidly expanding because these variants have high effect sizes and a known genetic basis. Moreover, the prevalence of recurrent GDDs (encompassing aneuploidies and certain copy number variations) enables genetic-first phenotypic characterization of the same GDD across multiple individuals, thereby offering a unique window into genetic influences on the human brain and behavior.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers Gaby et al. Genome medicine 2022 6 (1) 66

We find that upon re-evaluation of undiagnosed patients, both reanalysis of existing ES data as well as resequencing strategies are needed to identify additional genetic diagnoses. Importantly, not all patients are routinely re-evaluated in clinical care, prolonging their diagnostic trajectory, unless systematic reanalysis is facilitated. We have translated our observations into considerations for systematic and ad hoc reanalysis in routine genetic care.

news Latest News and Publications
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
Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review. External Web Site Icon
Fetyan Saja, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (2) 219-227
Circulating microRNA profiling is altered in the acute respiratory distress syndrome related to SARS-CoV-2 infection. External Web Site Icon
Garcia-Giralt Natalia, et al. Scientific reports 2022 0 0. (1) 6929
Identifying Potential Gene Defect Patterns Related to COVID-19 Based on Pharmacological and Bioinformatics Analysis for Lung Adenocarcinoma. External Web Site Icon
Lou Hongqiang, et al. International journal of general medicine 2022 0 0. 4285-4301
Artificial Intelligence Assisting the Early Detection of Active Pulmonary Tuberculosis From Chest X-Rays: A Population-Based Study. External Web Site Icon
Nijiati Mayidili et al. Frontiers in molecular biosciences 2022 9874475
TB-Net: A Tailored, Self-Attention Deep Convolutional Neural Network Design for Detection of Tuberculosis Cases From Chest X-Ray Images. External Web Site Icon
Wong Alexander et al. Frontiers in artificial intelligence 2022 5827299
Passive Immunotherapy Against SARS-CoV-2: From Plasma-Based Therapy to Single Potent Antibodies in the Race to Stay Ahead of the Variants. External Web Site Icon
Strohl William R, et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2022 0 0.
'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening. External Web Site Icon
Boardman Felicity et al. Social science & medicine (1982) 2022 301114972
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure. External Web Site Icon
Volozonoka Ludmila et al. Reproduction (Cambridge, England) 2022 163(6) 351-363
Association of Elevated Expression Levels of COL4A1 in Stromal Cells with an Immunosuppressive Tumor Microenvironment in Low-Grade Glioma, Pancreatic Adenocarcinoma, Skin Cutaneous Melanoma, and Stomach Adenocarcinoma. External Web Site Icon
Shin Hyo-Jae et al. Journal of personalized medicine 2022 12(4)


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.