International Genetics and Genomics of Diseases

Pancreatic Cancer Treatment Outcome Predicted By Genetic Test A genetic tool developed in Japan allows clinicians to determine which patients may benefit the most from pancreatic cancer surgery to remove advanced tumors after first undergoing treatment to shrink the tumors. The tumor marker gene (TMG) model involves combining the patients’ genetics with that of their tumor and was able to differentiate between patients who did well after surgery and those who did not. The research team, led by Nagoya University, now wants to further develop the TMG model score they created and to validate it for potential wider use. “We found that the TMG model could more accurately identify which patients would really benefit from surgery. This could prevent some from undergoing unnecessary procedures and offer surgical opportunities to others who might have been overlooked,” said lead investigator Haruyoshi Tanaka from the Department of Surgery at Nagoya University Hospital in a press statement. ...

Human Brain Organoids Model Abnormal Prenatal Neural Development Induced by Thermal Stimulation The developing human foetal brain is sensitive to thermal stimulation during pregnancy. However, the mechanisms by which heat exposure affects human foetal brain development remain unclear, largely due to the lack of appropriate research models for studying thermal stimulation. To address this, we have developed a periodic heating model based on brain organoids derived from human pluripotent stem cells. The model recapitulated neurodevelopmental disruptions under prenatal heat exposure at the early stages, providing a paradigm for studying the altered neurodevelopment under environmental stimulation. Our study found that periodic heat exposure led to decreased size and impaired neural tube development in the brain organoids. Bulk RNA-seq analysis revealed that the abnormal WNT signalling pathway and the reduction of G2/M progenitor cells might be involved in heat stimulation. Further investi...

Increased Risk of Dermatomyositis in Patients with Psoriasis: A Retrospective Cohort Study Purpose This study aimed to investigate the risk of dermatomyositis among patients with psoriasis in a large population. Patients and Methods Individuals aged ≥20 years with records in the TriNetX database from January 1, 2002 to December 31, 2022 were included. Diagnoses of psoriasis, non-psoriasis, dermatomyositis, and associated comorbidities were established using the International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) code. Patients who were diagnosed with dermatomyositis before the index date were excluded. Propensity score matching (PSM) was performed in a 1:1 ratio between the psoriasis group and non-psoriasis group. Kaplan–Meier curves were used to determine the cumulative incidence of dermatomyositis, and the Cox proportional hazard model was used to estimate the hazard ratio between the two groups. Results After PSM, 301018 individuals were includ...

Association Between Four Non-Insulin-Based Insulin Resistance Indices and the Risk of Post-Stroke Depression Purpose Research suggests that insulin resistance (IR) is associated with acute ischemic stroke (AIS) and depression. The use of insulin-based IR assessments is complicated. Therefore, we explored the relationship between four non-insulin-based IR indices and post-stroke depression (PSD). Patients and Methods A total of 638 consecutive AIS patients were enrolled in this prospective cohort study. Clinical data were collected to compute indices such as the triglyceride glucose (TyG) index, triglyceride glucose-body mass index (TyG-BMI), insulin resistance metabolic score (METS-IR), and triglyceride/high-density lipoprotein cholesterol ratio (TG/HDL-C). One month post-stroke, neuropsychological assessments were conducted using the 17-item Hamilton Depression Scale. Binary logistic regression analysis was performed to explore the relationship between the four non-insulin-based IR i...

Prof. Yipeng Liu, The First Affiliated Hospital of Shandong First Medical University, China  

Bioinformatics analysis of differentially expressed genes in hyperplastic scars using microarray data Objective Using DNA microarray technology, we compared the differences in mRNA expression profiles between human hypertrophic scars (HTS) and normal skin tissues. Analyzing the differential genes in bioinformatics, to explore the pathogenesis of HTS at the molecular level, and to provide new targets for clinical treatment of HTS. Methods Three HTS samples and their adjacent normal skin samples were collected. The extraction of total RNA was performed for cDNA microarray analysis. The screening of differentially expressed genes was carried out by using Genespring 10.0 software, and cluster analysis was performed between HTS and normal skin groups within the group, and Gene Ontology (GO) and biological pathway analysis were performed for differentially expressed genes by using DAVID Bioinformatics Resources 6.7. Results In the 3 HTS samples, 3832 mRNAs overlapped in 3 HTS samples with m...

Long-acting release of fluocinolone acetonide microspheres using electrospray technology for noninfectious uveitis therapy Intravitreous long-acting drug delivery system offers an excellent alternative to multiple injections for the treatment of noninfectious uveitis (NIU). However, the adverse effects of non-biodegradable intravitreal implants of fluocinolone acetonide (FA), such as postoperative hypotony and secondary injury during removal of the implant matrix, are frequent occurrence to affect patient’s compliance. Herein, biodegradable poly (lactic-co-glycolic acid) (PLGA)-based microspheres (MS) containing fluocinolone acetonide (FA@MS) were prepared using an optimized electrospray technology with a voltage of 10.07 kV and the receiving distance of 9.87 cm. The obtained FA@MS with the average particle size of 2.25 μm possessed the high encapsulation efficiency (94.85%) and drug content (9.48%). In vitro release demonstrated that FA@MS exhibited sustained release for 30 days, and...

New blood test detects tumor-derived cell-free RNA with high sensitivity Somewhere in the body of a patient, a small clump of cells, growing undetected, has begun to form a tumor. It has yet to cause pain or visible symptoms of illness. Several months from now, or perhaps years, those first signs will prompt a doctor's inquiry, a referral to a specialist, and an eventual diagnosis. Treatment will depend on how long the cancer has gone unnoticed and how far it has spread. There were early signs, though not ones the patient or doctor could have noticed. Small fragments of RNA, cast off from dying cells or spit out of the tumor's twisted transcriptions, floating about in the bloodstream—early signals of a tissue in distress. A new method developed by Stanford researchers aims to bring the moment of detection much closer to the beginning. They have developed a blood-based method called RARE-seq that detects tumor-derived cell-free RNA with around 50 times the sensitivity of standar...

Your DNA Could Be the Next Target: Scientists Warn of Looming Cyber Threats to Genetic Data As the digital revolution transforms modern medicine, a less visible but equally powerful frontier is emerging—one that involves code of a different kind: DNA. The same sequences used to fight cancer, personalize treatment, and trace ancestry are now the focus of a growing cyber threat. A recent study conducted by Dr. Anjum and his team at the University of Portsmouth has issued a stark warning: cybercriminals could potentially target and exploit DNA data, particularly through the vulnerabilities of widely adopted Next-Generation Sequencing (NGS) platforms. ALSO READ: Call for Cyber Experts: Join FCRF Academy as Trainers and Course Creators These platforms digitize genetic samples and transfer them to cloud-based systems for analysis—a practice that, while revolutionizing biotechnology, has exposed the field to the risks familiar in other domains of cybersecurity. The threat isn’t just theoretic...

International Research Awards on Genetics and Genomics of Diseases

Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of <5%, and transfer resulted in a live birth. The mutant load of embryos diagnosed in this case was skewed to the extremes. Skewed segregation patterns have been observed in common mutations, but this case suggests that the same phenomenon may be seen in this rare mutation. Mitochondrial DNA (mtDNA) disorders are usually heteroplasmic, with cells harboring both wild-type and mutated mtDNA. They may become apparent once the number of affected mitochondria reaches a certain level. The threshold varies from tissue to tissue, and the percentage level of mutant mtDNA (mutant load, ML) also varies between and within individuals, making it difficult to esta...

The genetic mystery of why some people develop autism Genetic factors are thought to play a major role in the development of autism – but for decades what they are has proven elusive. Now scientists are starting to uncover clues. Until the 1970s, the prevailing belief in psychiatry was that autism was a consequence of bad parenting. In the 1940s, the Austrian psychiatrist Leo Kanner had coined the controversial "refrigerator mother" theory suggesting that autism arose from early childhood trauma, created by mothers who were cold, uncaring and rejected their children. Daniel Geschwind, a neuroscience and genetics professor at the University of California, Los Angeles (UCLA), says that this is now rightly recognised as being deeply damaging and wrong – but it took the better part of three decades for Kanner's theory to be debunked. It was not until 1977, when a couple of psychiatrists carried out a landmark study demonstrating that autism often runs in identical twins, th...

Oncogenic gene fusions in cancer: from biology to therapy Oncogenic gene fusions occur across a broad range of cancers and are a defining feature of some cancer types. Cancers driven by gene fusion products tend to respond well to targeted therapies, where available; thus, detection of potentially targetable oncogenic fusions is necessary to select optimal treatment. Detection methods include non-sequencing methods, such as fluorescence in situ hybridization and immunohistochemistry, and sequencing methods, such as DNA- and RNA-based next-generation sequencing (NGS). While NGS is an efficient way to analyze multiple genes of interest at once, economic and technical factors may preclude its use in routine care globally, despite several guideline recommendations. The aim of this review is to present a summary of oncogenic gene fusions, with a focus on fusions that affect tyrosine kinase signaling, and to highlight the importance of testing for oncogenic fusions. We present an overview of...

Scientists Astonished by Surprising Evolutionary Twist in Frog Sex Genes African clawed frogs are known for their flat bodies, vocal organs, and claws on the first three toes of the hind feet. Credit: Adam Bewick. Researchers at McMaster University discovered eight different sex chromosomes in 11 species of African clawed frogs, revealing surprising genetic diversity. The study found these chromosomes in genome regions with high genetic recombination, challenging existing theories about sex-determining gene evolution. This research highlights how crucial biological traits like sexual differentiation can evolve rapidly through newly developed genes. Genetic Diversity in African Clawed Frogs Researchers at McMaster University have discovered surprising genetic diversity in how sex is determined in the African clawed frog, one of the most extensively studied amphibians in the world. Through genomic analysis, scientists identified eight distinct sex chromosomes across 11 species of the...

Breakthrough Gene Therapy Turns Immune Cells Against Cancer A groundbreaking study led by researchers from Israel, the US, and China has developed a genetic method to reprogram immune cells, transforming them from cancer promoters into powerful tumor fighters. The findings, published by the Weizmann Institute of Science, could pave the way for new immunotherapy treatments for solid cancers. Macrophages: The Double-Edged Sword of the Immune System Macrophages are versatile immune cells that typically help the body fight infections and diseases. However, in many cancers, they switch sides, protecting tumors, aiding their growth, and even helping them spread. “Macrophages are like the Swiss Army knife of the immune system—they can perform many functions, but in cancer, they’re hijacked to help tumors survive,” explained Prof. Ido Amit, lead researcher at Weizmann’s Systems Immunology Department. Gene-Editing Breakthrough: The Zeb2 Switch Using CRISPR-Cas9 gene editing and AI-powered singl...

Exploring career opportunities in healthcare genomics Genomics is a field of healthcare focused on studying an organism's genes and their interactions with each other and the surrounding environment. Historically, genomics was perceived as a field constrained by high costs and complexity, but this narrative has gradually shifted over the past decade. However, there’s limited awareness about the career opportunities in genomics and the path to building a career in this promising field. The field of genomics is evolving rapidly, and we see several key trends driving change:From Late-Stage to Preventive Genomics: Genomics is no longer limited to late-stage disease management. Early screening tests enable routine preventive care and early intervention. The Rise of AI and Machine Learning: Advanced technologies are transforming how we interpret genomic data, enabling faster, more precise diagnostics.   Rare Disease Testing: There has been significant growth in developing genomic solutio...