GENETIC RISK: With New Disease Genes, a Bounty of Questions

Science ◽  
2008 ◽  
Vol 319 (5871) ◽  
pp. 1754-1755 ◽  
Author(s):  
J. Couzin
Keyword(s):  
Genetic Risk ◽  
Disease Genes ◽  
New Disease

scholarly journals Capturing New Disease Genes in Psoriasis and Other Skin Diseases

2021 ◽  
Vol 141 (8) ◽  
pp. 1881-1884
Author(s):  
Jefferson K. Chen ◽  
Ghaidaa Kashgari ◽  
Bogi Andersen
Keyword(s):  
Skin Diseases ◽  
Disease Genes ◽  
New Disease

Using Functional Linkage Gene Networks to Study Human Diseases

2011 ◽  
pp. 275-293
Author(s):  
Bolan Linghu ◽  
Guohui Liu ◽  
Yu Xia
Keyword(s):  
Gene Networks ◽  
Molecular Mechanisms ◽  
Common Disease ◽  
Disease Genes ◽  
New Disease ◽  
Cellular Functions ◽  
Proteomic Data ◽  
Functional Linkage ◽  
Disease Associations ◽  
Shed Light

A major challenge in the post-genomic era is to understand the specific cellular functions of individual genes and how dysfunctions of these genes lead to different diseases. As an emerging area of systems biology, gene networks have been used to shed light on gene function and human disease. In this chapter, first the existence of functional association for genes working in a common biological process or implicated in a common disease is demonstrated. Next, approaches to construct the functional linkage gene network (FLN) based on genomic and proteomic data integration are reviewed. Finally, two FLN-based applications related to diseases are reviewed: prediction of new disease genes and therapeutic targets, and identification of disease-disease associations at the molecular level. Both of these applications bring new insights into the molecular mechanisms of diseases, and provide new opportunities for drug discovery.

GENETICS: Enhanced: Delivering New Disease Genes

Science ◽  
2006 ◽  
Vol 314 (5804) ◽  
pp. 1403-1405 ◽  
Author(s):  
L. R. Cardon
Keyword(s):  
Disease Genes ◽  
New Disease

Current advances in lupus genetic and genomic studies in Asia

Lupus ◽  
2010 ◽  
Vol 19 (12) ◽  
pp. 1374-1383 ◽  
Author(s):  
YJ Yuan ◽  
XB Luo ◽  
N. Shen
Keyword(s):  
Risk Factors ◽  
Ethnic Groups ◽  
Lupus Erythematosus ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Disease Genes ◽  
Asian Populations ◽  
Genetic Components ◽  
Genomic Studies ◽  
Interferon Pathway

The genetic components in systemic lupus erythematosus (SLE) have long been established, however, it has been unclear for many years whether the same genetic risk factors for SLE are shared across different ethnic groups. Over the past few years, a number of genetic and genomic studies have been conducted in Asian populations to address this question. These studies have demonstrated that genetic heterogeneity does exist in SLE across different ethnic groups. With these studies, it has been established that a number of genes associated with SLE in Caucasians are also risk factors in Asians: HLA class II genes, STAT4, BANK1, BLK, IRF5, TNFSF4, ITGAM, etc., while there are also novel genetic risk factors identified by these studies in Asians, for instance, the ETS1 and WDFY4 in Chinese. For the genomic studies, the interferon signature has been confirmed as a major lupus molecular phenotype in Asians the same as in Caucasians; microRNA expression profiling and its novel role in regulating the interferon pathway has been first revealed in Asians. Further understanding of the function of lupus disease genes and delineating the key molecular pathway(s) will enhance the development of novel therapeutic targets and biomarkers for individualized clinical management for lupus patients.

scholarly journals Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

2021 ◽  
Author(s):  
Bo Yuan ◽  
Katharina Schulze ◽  
Nurit Assia Batzir ◽  
Jefferson Sinson ◽  
Hongzheng Dai ◽  
...  
Keyword(s):  
Clinical Care ◽  
Large Deletion ◽  
Disease Genes ◽  
New Disease ◽  
Genomic Deletions ◽  
Pathogenic Variation ◽  
Novel Strategy ◽  
Meta Analyses ◽  
Nonallelic Homologous Recombination ◽  
Computational Analyses

AbstractIn medical genetics, discovery and characterization of new “disease genes” and alleles depend on patient ascertainment strategies to enrich previously uncharacterized alleles. Here, we present a novel strategy of new allele and gene discovery for recessive/biallelic disease traits. In this approach, patients with large recurrent genomic deletions mediated by nonallelic homologous recombination (NAHR) are sequenced, and new discoveries are revealed in the hemizygous chromosomal regions in trans to the large deletion, essentially enabling haploid genomic segment genetics. We demonstrate through computational analyses that a collection of 30 large recurrent genomic deletions scattered in the human genome contribute to more than 10% of individual disease load for 2.13% of all known “recessive disease genes”. We performed meta-analyses for all literature reported patients affected with the 13 genes whose carrier burden are predicted to be almost exclusively from large recurrent genomic deletions. The results suggest that current sequencing efforts for personal genomes with large recurrent deletions is under-appreciated. By retrospective analyses of previously undiagnostic exome sequencing (ES) data on 69 subjects harboring 26 types of recurrent deletions, probable diagnostic variants were uncovered in genes including COX10, ERCC6, PRRT2 and OTUD7A, demonstrating new disease allele/gene/mechanism characterization. Findings from this study support the contention that more whole genome sequencing (WGS) may further resolve molecular diagnoses and provide evidence for multi-locus pathogenic variation (MPV). Such analyses benefit all stakeholders in both research development and patient clinical care.

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