Researchers at University of California San Diego (UCSD) School of Medicine have identified six loci or regions of the human genome that are significantly linked to personality traits. Findings from this new study, which were published recently in Nature through an article entitled “Genome-wide analyses for personality traits identify six…

A new research study, led by scientists at the Children’s Hospital of Philadelphia (CHOP), has uncovered a gene region that raises the risk a child will have a middle ear infection, known clinically as acute otitis media (AOM). The new findings, published recently in Nature Communications through an article entitled…

Scientists at Johns Hopkins University believe they are closer to understanding the genetic mechanism of a rare, complex, multiple-gene disorder called Hirschsprung's disease. The results from the latest study—entitled “Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease” and published in Cell—suggest that many patients develop…

Gliomas are the most common malignant brain tumors in humans, constituting about 30% of all brain and central nervous system tumors and 80% of all malignant brain tumors. Gliomas are very severe human brain tumors that are rarely curable. Interestingly, these tumors are strikingly similar in dogs and humans. Moreover,…

The strength of genome-wide association studies (GWAS) lies in their ability to identify new disease biomarkers through large-scale genomic comparisons of afflicted individuals and unaffected controls. Now, using this powerful technique, an international collaboration of researchers has identified five new gene regions that increase a woman's risk of developing endometrial…

Researchers at the University of Chicago and Stanford University have described in a new study how thousands of RNA splice mutations affect gene regulation in traits such as height  and diseases such as multiple sclerosis. The findings highlight the need for a better understanding of the role of RNA splicing…

A new research study, led by scientists at St. Jude Children's Research Hospital, has identified a rare genetic variation associated with a dramatically increased risk of severe acute pancreatitis in acute lymphoblastic leukemia (ALL) patients treated with the chemotherapy agent asparaginase. Asparaginase is an essential agent used to treat ALL…

Effectively putting the genome on the couch, a team of medical researchers and psychologists has identified genetic variants associated with subjective well-being, depression, and neuroticism. This investigation of behavioral genetics was unusually fruitful mainly because it was so wide-ranging. More than 190 scientists conducted genome-wide association studies (GWAS), and they…

Thousands of genetic variants have been associated with different diseases, but these variants still retain their most treacherous secrets—the mechanisms by which they contribute to disease processes. The trick is these mechanisms typically involve multiple conspirators—not just genes, but also transcription factors, enhancers, and promoters. If these networks could be…

The protective effect of the sickle cell allele and its increased prevalence in sub-Saharan Africa is evidence of the selection pressure that malaria has had on human evolution. However, remarkably few other polymorphisms have been observed to be associated with parasite resistance in large population studies.       Now, researchers with MalariaGEN—an…

Tute Genomics said today a company database containing 8.5 billion annotations of genetic variants will be made publicly accessible through Google Genomics, through a partnership with Google as well as Xiaoming Liu, Ph.D., and his team at the University of Texas, Houston Health Science Center’s Human Genetics Center. According to…

The National Institutes of Health has issued a final NIH Genomic Data Sharing (GDS) policy to promote data sharing as a way to speed the translation of data into knowledge, products, and procedures that improve health while protecting the privacy of research participants. The final policy was posted in the…

Technological advances such as high-throughput sequencing are transforming medicine from symptom-based diagnosis and treatment to personalized medicine as scientists employ novel rapid genomic methodologies to gain a broader comprehension of disease and disease progression. As next-generation sequencing becomes more rapid, researchers are turning toward large-scale pan-omics, the collective use of…