International Genetics and Genomics of Diseases

“Delete-To-Recruit” – Scientists Discover Simpler Approach to Gene Therapy Repositioning genes awakens fetal hemoglobin to treat disease. CRISPR editing may change future gene therapy. Researchers have discovered a promising new approach to gene therapy by reactivating genes that are normally inactive. They achieved this by moving the genes closer to regulatory elements on the DNA known as enhancers. To do so, they used CRISPR-Cas9 technology to cut out the piece of DNA separating the gene from its enhancer. This method could open up new ways to treat genetic diseases. The team demonstrated its potential in treating sickle cell disease and beta-thalassemia, two inherited blood disorders. In these cases, a malfunctioning gene might be bypassed by reactivating an alternative gene that is usually turned off. This technique, called “delete-to-recruit,” works by altering the distance between genetic elements without introducing new genes or foreign material. The study was conducted by r...

Scientists uncover genetic innovation underlying evolution of ants Scientists from the Global Ant Genomics Alliance on Monday published groundbreaking research in the international academic journal Cell, revealing the genetic foundations underlying major adaptive changes in ant evolution and their co-evolving social traits. Despite their small size, ants display impressive organizational capabilities. They are able to build intricate nests without the use of language for communication, and they exhibit a remarkably efficient division of labor. By analyzing the whole-genome data of 163 ant genomes collected worldwide, the research team reconstructed the evolutionary tree of the Formicidae family, encompassing 12 of its 16 extant subfamilies. The team's research clarifies the complex phylogenetic relationships among ant species and traces the common ancestor of extant ants back to the late Jurassic period about 157 million years ago, shedding light on the origin of ant sociality in t...

A Qualitative Study on the Barriers and Enablers to Effective Hypertension Management Background: Hypertension remains a significant public health challenge in Ghana. Understanding the experiences of hypertensive patients can inform strategies to improve their management. This study explored the perceived enablers and barriers to hypertension management among patients in the Ashanti region, Ghana, using the Chronic Care Model as a framework. Methods: In-depth interviews were conducted with 20 hypertensive patients receiving care at Komfo Anokye Teaching Hospital. Inductive thematic analysis was employed to identify key themes and subthemes. Results: Several barriers to hypertension management emerged, including economic constraints, environmental and lifestyle factors, knowledge and awareness deficits, medication-related issues, and policy and provider-level barriers. Conversely, enablers such as patient empowerment, education, healthcare access, and policy and provider support and re...

Peripheral blood RNA modifications as a novel diagnostic signature for polycystic ovary syndrome Polycystic ovary syndrome (PCOS) is the most prevalent ovulatory and endocrine disorder affecting reproductive-aged women, yet the absence of a specific, rapid molecular diagnostic marker results in diagnostic delays and inaccuracies. Given the critical role of RNA modifications in disease pathology, this study utilized a high-throughput RNA modification profiling platform to investigate 15 types of peripheral blood RNA modification patterns in individuals with ovulatory disorders, including PCOS and primary ovarian insufficiency (POI), and control subjects. Our results revealed that distinct modification profiles correspond to specific disease states, with significant shifts in RNA modification inter-correlations observed across conditions. Additionally, specific RNA modifications were associated with clinical features, such as serum levels of testosterone and the follicle number per ovar...

Genomic alterations in Bacteroides fragilis favor adaptation in colorectal cancer microenvironment Background The occurrence and development of colorectal cancer (CRC) is an incredibly long process that involves continuous changes in the tumor microenvironment. These constant changes may ultimately result in genetic alterations and changes in the metabolic processes of some symbiotic bacteria as a way to adapt to the changing environment. Patients with CRC exhibit an altered abundance of Bacteroides fragilis (B. fragilis) as indicated by several studies. To better understand the genomic characteristics and virulence spectrum of B. fragilis strains in tumor tissues, B. fragilis strains were isolated from tumor and paracancerous tissues of CRC patients. Methods The isolates were identified using 16 S rRNA sequencing, morphological analysis, physiological and biochemical characterization and PCR, and they were then subjected to whole genome sequencing (WGS) analysis. Results A strain of B...

The Effect of Medication Adherence and Spirituality in Quality of Life of Patients with Rheumatic Diseases Background:   Spirituality is significantly associated with the quality of life of patients suffering from rheumatic diseases, helping them to cope with pain and improve emotional well-being. There is a gap in the literature regarding the relationship between spirituality, quality of life and treatment adherence in patients with rheumatic diseases, especially rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), as relevant studies, especially in the Greek population, are limited. Aims:   The present study aimed to evaluate the effect of medication adherence and spirituality on the quality of life of patients with rheumatic diseases. Methods:   This was a cross-sectional study conducted in adult patients with rheumatoid arthritis and systemic lupus erythematosus from the region of Crete. Data were collected via a self-administrated questionnaire consisti...