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GenoMed Connect

ISSN: 3006-9033
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Volume 2

Articles

All Articles
Review Article

Published: 24 Jun 2025

Epigenetic Insights into Bladder Cancer: The Role of Urine DNA Methylation Assays: Mini Review

Volume 2

Bladder cancer remains a major global health challenge due to its high incidence, recurrence rates, and reliance on invasive diagnostic procedures. While conventional methods, such as cystoscopy and urine cytology, are considered standard, they often demonstrate limited sensitivity, particularly in detecting early-stage disease. Epigenetic alterations, particularly DNA methylation, are now recognized as critical in bladder cancer development and progression. Non-invasive urine-based DNA methylation assays have emerged as promising diagnostic and..

Journal: GenoMed Connect
Research Article

Published: 23 Jun 2025

Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children

Volume 2

Progressive familial intrahepatic cholestasis (PFIC) is a rare group of genetic disorders that typically presents in infants and children, often progressing to end-stage liver disease. We used whole genome sequencing (WGS) for diagnosis to assess phenotypic features and outcomes in Pakistani children with different types of PFIC. The study included 116 pediatric participants with five PFIC types: PFIC1, ATP8B1 gene (n = 19); PFIC2, ABCB11 (n = 28); PFIC3, ABCB4..

Journal: GenoMed Connect
Research Article

Published: 21 Apr 2025

Identification of Hub Genes and Molecular Mechanisms of Association of PCOS, Breast, and Ovarian Cancers Using an Integrated Bioinformatics Analysis

Volume 2

Background: Oxidative stress plays a crucial role in various aspects of cancer and other diseases. While reactive oxygen species (ROS) serve as key signal molecules in physiological processes for the normal functioning of the female reproductive system, they have also been implicated in pathological processes such as polycystic ovary syndrome (PCOS). Some studies have reported a significantly higher risk of endometrial cancer in women with PCOS. However, the association of..

Journal: GenoMed Connect
Perspective

Published: 28 Feb 2025

Precision Medicine for Autoimmunity: From CAAR-T Cells to AI-Driven CRISPR-Based Therapies, Challenges and Perspectives

Volume 2

This manuscript examines advancements in antigen-specific immunosuppression, as well as the potential and challenges of applying gene-editing technologies to autoimmune diseases driven by autoantibodies (AAbs). Current approved treatments fail to reach long-lived plasma cells (LLPCs), which may continue secreting pathogenic AAbs after immunobiological courses in some autoimmune illnesses. New approaches, some tested in vitro and some already undergoing clinical trials, such as the chimeric autoantibody receptor (CAAR)-T cells, BiTEs, affinity..

Journal: GenoMed Connect
Editorial

Published: 15 Jan 2025

The Potential of Artificial Intelligence and Machine Learning in Pharmacovigilance: An Update

Volume 2

The integration of artificial intelligence (AI) and machine learning (ML) into pharmacovigilance (PV) marks a transformative step towards enhancing drug safety and patient outcomes. With their unparalleled ability to analyze vast and complex datasets, AI/ML technologies offer unprecedented opportunities to revolutionize adverse drug event (ADE) monitoring, signal detection, and causality assessment. This editorial explores the state-of-the-art applications, key challenges, and actionable strategies to unlock the full potential of AI in..

Journal: GenoMed Connect
Research Article

Published: 09 Jan 2025

How Caffeine Affects Alpha-Amylase: An In Vivo Study

Volume 2

Background: Caffeine is a widely consumed psychostimulant with various effects, including weight and metabolic parameters. Caffeine consumption has been associated with increased blood glucose levels and reduced insulin sensitivity. Since xanthine derivatives like caffeine can activate alpha-amylase, an enzyme essential for carbohydrate-to-glucose conversion, this study investigates whether this translates to increased amylase activity in living organisms and explores potential gene expression changes. Methods: Male NMRI mice were divided to 5..

Journal: GenoMed Connect
Research Article

Published: 12 Dec 2024

The Placement of Auer Rods as a Single Diagnostic Criterion for the Highest-Risk Category of Myelodysplastic Syndromes: A Single-Institution Study and Critical Analysis

Volume 2

Accurate determination of prognostic risk is critical for patients and treating clinicians. The French-American-British classification of myelodysplastic syndromes (MDS) described refractory anemia with excess blasts (RAEB) in transformation (RAEB-T), including two subsets with <20% bone marrow (BM) blasts, which were reclassified as RAEB-2, the highest-risk MDS category in the 2001 World Health Organization classification. Those diagnostic criteria have been retained until now with nomenclature changes from RAEB-2 to “MDS with..

Journal: GenoMed Connect
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