International Genetics and Genomics of Diseases

DNA Nanostructure as an Efficient Drug Delivery Platform for Immunotherapy Immunotherapy has received increasing attention due to its low potential side effects and high specificity. For instance, cancer immunotherapy has achieved great success. CpG is a well-known and commonly used immunotherapeutic and vaccine adjuvant, but it has the disadvantage of being unstable and low in efficacy and needs to be transported through an effective nanocarrier. With perfect structural programmability, permeability, and biocompatibility, DNA nanostructures are one of the most promising candidates to deliver immune components to realize immunotherapy. However, the instability and low capability of the payload of ordinary DNA assemblies limit the relevant applications. Consequently, DNA nanostructure with a firm structure, high drug payloads is highly desirable. In the paper, the latest progress of biostable, high-payload DNA nanoassemblies of various structures, including cage-like DNA nanostructure, ...

Seasonality of brain function: role in psychiatric disorders Seasonality patterns are reported in various psychiatric disorders. The current paper summarizes findings on brain adaptations associated with seasonal changes, factors that contribute to individual differences and their implications for psychiatric disorders. Changes in circadian rhythms are likely to prominently mediate these seasonal effects since light strongly entrains the internal clock modifying brain function. Inability of circadian rhythms to accommodate to seasonal changes might increase the risk for mood and behavior problems as well as worse clinical outcomes in psychiatric disorders. Understanding the mechanisms that account for inter-individual variations in seasonality is relevant to the development of individualized prevention and treatment for psychiatric disorders. Despite promising findings, seasonal effects are still understudied and only controlled as a covariate in most brain research. Rigorous neuroimag...

How pre-marital genetic screening will empower families It has taken a significant step to secure the health of future generations as it makes it mandatory for Emiratis to undergo genetic screening before marriage. The genetic screening, which will become an integral part of the premarital screening programme from January 2025, involves testing 570 genes and covers over 840 disorders. According to the Ministry of Health and Prevention (MOHAP), these tests can identify if couples carry shared genetic mutations that might be passed on to their future children. However, various factors can influence a child's health, and genetic screening is just one aspect to consider in family planning. Often, these mutations remain hidden, only surfacing when both parents are carriers. The results empower couples to make informed decisions about family planning. A simple process Dr Shanitha Fathima, a specialist obstetrician and gynecologist at Medcare Royal Speciality Hospital, explains the first ...

Study Reveals Genetic and Linguistic Roots of Indo-European Populations A comprehensive study involving 91 researchers, including Eske Willerslev from the Lundbeck Foundation GeoGenetics Centre at the University of Copenhagen, has provided critical insights into the genetic and linguistic origins of Indo-European populations. The findings, identify two significant migrations during the Bronze Age that contributed to the spread of steppe ancestry across the Mediterranean. The genetic research links Spanish, French and Italian populations to Bell Beaker ancestry, while Greek and Armenian populations have been connected directly to Yamnaya ancestry from the Pontic Steppe region. Analyses of Steppe Ancestry Distribution According to the study published on the preprint server bioRxiv, steppe ancestry in Western Europe is attributed to Bell Beaker populations, who combined their genetic profile with local Neolithic farmers. These migrations align with linguistic theories suggesting a shared ...

Geneticists Solve the Mystery of Why Some Cats Are Orange-and Why They Tend to Be Males Orange cats have earned an online reputation for being chaotic, energetic rascals. But among scientists, they’ve long been known for something else: the enduring mystery of their distinctive coats. Now, two independent studies by American and Japanese scientists have probed the genetic origins of these cats’ color—and, working separately, the teams reached the same conclusion. They suggest that orange cats have their bright, warm pelts as a result of genetic variations on their X chromosomes. The papers, which have not yet been peer-reviewed, were recently posted to the preprint server bioRxiv. Scientists Greg Barsh from Stanford University and Hiroyuki Sasaki from Japan’s Kyushu University and their teams studied feline genomes to pinpoint which protein encoded by a cat’s genes brought out the orange hue. What they found was astonishing: a tiny deletion on the cat’s DNA influenced its entire color ...

Gene vs. genome: What is the difference? Genes are specific segments of DNA that influence certain aspects of growth and health. Collectively, scientists refer to all of an organism’s genes as a genome. DNA is the genetic material or code that tells cells in the body how to replicate themselves. Almost every cellTrusted Source in an organism’s body contains a complete copy of its genome, packaged into chromosomes. Chromosomes are thread-like structures consisting of DNA and protein that sit inside cells. This article will explain what DNA, genes, and genomes are. It will also look at the differences between a gene and a genome and answer some frequently asked questions. What are genes? Genes consist of DNA, which is the genetic material that tells cells how to reproduce. Strands of DNA look like a twisted ladder, which scientists call a double helix. DNA consists of four chemicals, which are known as bases. They are: adenine (A) cytosine (C) guanine (G) thymine (T) The order of these c...

Comprehensive review on gene mutations contributing to dilated cardiomyopathy Dilated cardiomyopathy (DCM) is one of the most common primary myocardial diseases. However, to this day, it remains an enigmatic cardiovascular disease (CVD) characterized by ventricular dilatation, which leads to myocardial contractile dysfunction. It is the most common cause of chronic congestive heart failure and the most frequent indication for heart transplantation in young individuals. Genetics and various other factors play significant roles in the progression of dilated cardiomyopathy, and variants in more than 50 genes have been associated with the disease. However, the etiology of a large number of cases remains elusive. Numerous studies have been conducted on the genetic causes of dilated cardiomyopathy. These genetic studies suggest that mutations in genes for fibronectin, cytoskeletal proteins, and myosin in cardiomyocytes play a key role in the development of DCM. In this review, we provide a c...

Scientists Finally Crack 60-Year Mystery Behind Diabetes ‘Wonder Drug’ Metformin The antidiabetic drug metformin, widely prescribed for managing Type 2 diabetes, has long been recognized for its capacity to reduce blood glucose levels, attenuate inflammation, and slow tumor progression. Despite its widespread use for over 60 years, the precise molecular mechanisms underlying its effects have remained unclear. A recent study from Northwestern Medicine, published in Science Advances, sheds light on this longstanding question by identifying mitochondrial complex I as a primary target of metformin. Targeting Mitochondria To Regulate Blood Sugar Metformin exerts its glucose-lowering effects by disrupting energy production within the mitochondria, a key organelle responsible for cellular metabolism. The study demonstrates that the drug inhibits mitochondrial complex I, a crucial component of the mitochondrial electron transport chain. This disruption impairs cellular energy production in sel...

SCD patients free of VOEs after treatment with gene-editing therapy Nearly all the patients with severe sickle cell disease (SCD) who were treated with renizgamglogene autogedtemcel (reni-cel) remained free of vaso-occlusive events (VOEs) for up to two years, new data from the Phase 1/2/3 RUBY clinical trial shows. The treatment also increased total hemoglobin levels and was well tolerated, according to a company press release from Editas Medicine, the developer of the gene-editing therapy. Data from 28 patients was presented at the Annual Meeting and Exposition of the American Society of Hematology (ASH) in a poster presentation titled, “Reni-Cel, an Investigational AsCas12a Gene-Edited Cell Medicine, Led to Sustained Hemoglobin Normalization and Increased Fetal Hemoglobin in Patients with Severe Sickle Cell Disease Treated in the RUBY Trial.” The presentation was made by Rabi Hanna, MD, from the department of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation at Cl...

For kids with rare genetic disorders, customized CRISPR treatments offer hope Lucy Landman was born with a very rare genetic disorder that causes severe intellectual disability, weak muscles and seizures, among other symptoms. "She is expected to very much never be able to live independently, likely never be potty trained, likely never speak," says Geri Landman, Lucy's mother. Lucy, who is now 3 years old, has trouble with coordinating her muscles. She "walks like she's drunk most of the time," Landman says. "It's hard to watch your child suffer. And Lucy does, some days, suffer a lot." There are only a handful of kids in the world with Lucy's disorder, which is called PGAP-3 CDG. There's no way to treat it. In principle, CRISPR, the gene-editing technique that enables scientists to easily make very precise changes in genes, could be a godsend for patients like Lucy. CRISPR can edit the pairs of genetic letters, or bases, that make up D...

Scientists Identify Genes That Shape People's Teeth A group of genes drive the shape of each person’s teeth, including at least one gene inherited from Neanderthals, a new study published Dec. 12 in Current Biology found. There are 18 sets of genes that influence the size and shape of teeth, 17 of which had not been previously linked to tooth development, researchers reported. This includes a gene believed to be inherited from Neanderthals due to interbreeding with ancient humans. “We have now identified numerous genes that impact the development of our teeth, some of which are responsible for differences between ethnic groups,” researcher Kaustubh Adhikari, a statistical geneticist with the University College London, said in a news release from the university. These genetic revelations help inform scientists' understanding of human evolution, but they’ll also potentially contribute to better dental health, said lead researcher Qing Li, a postdoctoral researcher with Fudan Uni...

Genetic Mechanism Links Emotional Experiences to Behavior Changes Researchers have identified a genetic mechanism that regulates behavioral adaptations to emotional experiences by forming R-loops, unique RNA:DNA structures that activate target genes. The study focused on NPAS4, a gene implicated in stress and drug addiction, showing how blocking R-loops prevents maladaptive behaviors like cocaine seeking and stress-induced anhedonia in mice. This mechanism demonstrates how emotional experiences influence brain circuits by altering gene expression through enhancer RNA. The findings could pave the way for RNA-based therapies to treat psychiatric disorders linked to stress and substance use.R-Loop Role: R-loops form RNA:DNA structures to activate genes like NPAS4 during emotional experiences. Behavioral Impact: Blocking R-loops in brain regions prevents drug-seeking and stress-induced behaviors in mice. Therapeutic Potential: Insights could guide the development of RNA-based treatments fo...