International Genetics and Genomics of Diseases

8 babies spared from potentially deadly inherited diseases through new IVF 'mitochondrial donation' trial A groundbreaking trial in the U.K. has released data on eight babies born through a special IVF procedure to lower their risk of mitochondrial DNA disease. Mitochondria (pictured) carry unique DNA, but when that DNA is mutated, it can cause incurable diseases. A new trial looks at a way of lowering the risk of those conditions. (Image credit: MARK GARLICK/SCIENCE PHOTO LIBRARY via Getty Images).  Mitochondria, the powerhouses of cells, contain their own special DNA that gets passed from mother to child - but that DNA can sometimes carry mutations, causing diseases for which there are currently no cures. Now, in a new clinical trial, eight babies who had a high risk of inheriting such diseases from their moms appear to have been spared, thanks to an emerging technique called "mitochondrial donation." The approach used in the trial has been in development for many y...

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“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...