Browse Articles

The authors use known Parkinson's disease-associated genetic variants to compare the prevalence of sleep dysfunction between males and females diagnosed with Parkinson's disease.

Here, seeking to identify the risk of coronary artery disease (CAD), a major cause of cardiovascular disease, the authors used Mendelian randomization. With this method they identified several traits such as blood pressure readings, LDL cholesterol and BMI as significant risk factors. While other traits were not found to be significant risk factors.

Autism Spectrum Disorder (ASD) and Alzheimer's Disease (AD) are distinct conditions, but research suggests a link, as individuals with ASD are 2.5 times more likely to develop AD. A study employing genome-wide association studies and Mendelian randomization revealed shared genetic factors, particularly in synaptic regulation pathways, that may increase the risk of AD in those with ASD. These findings provide insights into the genetic underpinnings connecting the two disorders.

Enzymes that metabolize carbohydrates and lipids play a key role in our health, including global health challenges like cardiovascular diseases and diabetes. To learn more about these important enzymes, Gandhi and Gandhi test whether various natural substances (ginger, Aloe vera, lemon, and mint leaves) affect the activity of α-amylase and lipase enzymes.

While the genetic basis of hip fracture risk has been studied extensively in adults, it is not known whether parental history of bone fractures affects their children's fracture risk. In this article, the authors investigated whether a parental history of bone fractures influences the rate of fractures in their children. They found that adolescent children whose parents had a more extensive history of fractures were more likely to have a history of fractures themselves, suggesting that parents' medical histories may be an important consideration in future pediatric health research.

Coronary heart disease (CHD) is the leading cause of death in the U.S., responsible for nearly 700,000 deaths in 2021, and is marked by artery clogging that can lead to heart attacks. Traditional prediction methods require expensive clinical tests, but a new study explores using machine learning on demographic, clinical, and behavioral survey data to predict CHD.

Although the 5-year survival rate for colorectal cancer is below 10%, it increases to greater than 90% if it is diagnosed early. We hypothesized from our research that analyzing non-synonymous single nucleotide variants (SNVs) in a patient's exome sequence would be an indicator for high genetic risk of developing colorectal cancer.

Major Depressive Disorder (MDD), and Post-Traumatic Stress Disorder (PTSD) are two of the fastest growing comorbid diseases in the world. Using publicly available datasets from the National Institute for Biotechnology Information (NCBI), Ravi and Lee conducted a differential gene expression analysis using 184 blood samples from either control individuals or individuals with comorbid MDD and PTSD. As a result, the authors identified 253 highly differentially-expressed genes, with enrichment for proteins in the gene ontology group 'Ribosomal Pathway'. These genes may be used as blood-based biomarkers for susceptibility to MDD or PTSD, and to tailor treatments within a personalized medicine regime.

Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. In this paper, the authors attempt to identify variations in stretches of up to 8 nucleotides in the protein-coding portions of the CFTR gene that are associated with disease development. This would allow screening of newborns or even fetuses in utero to determine the likelihood they develop cystic fibrosis.

In the United States, there are currently 17.8 million affected by atopic dermatitis (AD), commonly known as eczema. It is characterized by itching and skin inflammation. AD patients are at higher risk for infections, depression, cancer, and suicide. Genetics, environment, and stress are some of the causes of the disease. With the rise of personalized medicine and the acceptance of gene-editing technologies, AD-related variations need to be identified for treatment. Genome-wide association studies (GWAS) have associated the Filaggrin (FLG) gene with AD but have not identified specific problematic single nucleotide polymorphisms (SNPs). This research aimed to refine known SNPs of FLG for gene editing technologies to establish a causal link between specific SNPs and the diseases and to target the polymorphisms. The research utilized R and its Bioconductor packages to refine data from the National Center for Biotechnology Information's (NCBI's) Variation Viewer. The algorithm filtered the dataset by coding regions and conserved domains. The algorithm also removed synonymous variations and treated non-synonymous, frameshift, and nonsense separately. The non-synonymous variations were refined and ordered by the BLOSUM62 substitution matrix. Overall, the analysis removed 96.65% of data, which was redundant or not the focus of the research and ordered the remaining relevant data by impact. The code for the project can also be repurposed as a tool for other diseases. The research can help solve GWAS's imprecise identification challenge. This research is the first step in providing the refined databases required for gene-editing treatment.