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GenoMed Connect

ISSN: 3006-9033
Volumes

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Articles

 
Mini-Review

Available Online: 02 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 like cystoscopy and urine cytology are standard, they often fall short in sensitivity, especially for 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 monitoring tools..

Journal: GenoMed Connect
Research Article

Available Online: 30 May 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 present in infants and children, often progressing to end-stage liver disease. Using whole genome sequencing (WGS) for diagnosis, we aimed 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 (n=52); PFIC4 TJP2..

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
Case Report

Published: 29 Nov 2024

Epidermolytic Hyperkeratosis Type 1 with a New Heterozygous Mutation in KRT1 Gene: A Case Report

Volume 1

Background: Epidermolytic hyperkeratosis (EHK) formerly known as bullous ichthyosiform erythroderma, is a rare autosomal dominant inheritance condition with a prevalence ranging from 1:200,000 to 1:300,000. The underlying etiology of which is a mutation in the genes responsible for keratin proteins synthesis, primarily in KRT1 and KRT10 genes, cataloged under OMIM number 113800. The clinicopathological presentations include blistering during the neonatal period, followed by ichthyotic hyperkeratosis in childhood and adolescence. This..

Journal: GenoMed Connect
Research Article

Published: 17 Oct 2024

Investigation of TLR4, TLR6, TLR7, and CD36 Expression on T lymphocytes in Coronary Artery Disease

Volume 1

Background: Coronary artery disease (CAD) is among the significant causes of death globally, caused by fatty deposits in blood vessel walls. Increasing evidence indicates that toll-like receptors (TLRs) are pivotal to atherosclerosis progression. The function of CD36 as a glycoprotein in atherosclerosis was also suggested. This study aimed to investigate the levels of TLR4, TLR6, and TLR7, as well as CD36 cell surface markers in CAD. Methods: This study included..

Journal: GenoMed Connect
Research Article

Published: 10 Sep 2024

Diversity of HLA Class I and II Genes in the North Indian Population

Volume 1

Introduction: Numerous studies have concentrated on specific populations to explore the extensive polymorphism of class I and II HLA genes. This genetic diversity is crucial for various applications, such as advancing transplantation immunology, understanding genetic population patterns, and uncovering the pathways of different diseases. Objective: The objective of the present study was to determine and analyse the frequencies of class I (HLA-A, HLA-B and, HLA-C), and class II (HLA-DRB1, and..

Journal: GenoMed Connect
Review Article

Published: 29 Aug 2024

Ethical Approaches in Secondary Findings Report from Exome Sequencing Analysis

Volume 1

In Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) approaches, incidental findings (IFs) or more precisely secondary findings (SFs) have indicated controversial reports. To address SFs issues, well-known guidelines have been released such as the versions of the American College of Medical Genetics and Genomics (ACMG); however, when, to whom, why, and how these SFs should be reported are the key questions that need to be addressed ethically. The..

Journal: GenoMed Connect
Review Article

Published: 23 Aug 2024

The Secret Life of Microbes: The Expanding Role of Microbes in Shaping Endocrine Health—The Role of Microbes in Endocrinology Health

Volume 1

This review was intended to attempt to establish the complex association between the endocrine system of the host and the gut microbiota. Microbial endocrinology is a relatively new field of study, which examines how microbes regulate hormonal; and affect metabolisms, immune system, and behavior responses. This is because the gut microbiome can be viewed as a virtual endocrine organ as it is involved in the synthesis of neuroactive substances as..

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
Editorial

Published: 30 Nov 2024

Preface

Volume 1

As Editor-in-Chief of GenoMed Connect, it is my great pleasure to introduce the inaugural issue of this journal, dedicated to bridging the fields of genomics and medicine. Our vision for GenoMed Connect is to serve as a platform for the latest research that informs precision medicine and promotes integrative healthcare approaches. This inaugural issue features a diverse collection of seven articles, showcasing the journal's commitment to interdisciplinary research and its..

Journal: GenoMed Connect
Research Article

Published: 05 Nov 2024

Evaluation of IL 12 Gene Expression and Serum Levels of OxPL / apoB in Patients with Coronary Artery Disease

Volume 1

Background Atherosclerotic lesions are formed as a result of low-density lipoprotein (LDL) accumulation, which is produced by oxidizing enzymes and oxidized phospholipids (OxPL). Phospholipid oxide causes inflammation-inducing activation genes and hyper-inflammation in addition to the initiation of inflammation and expression of Th1 cytokines. Interleukin 12 (IL-12) is one of the most significant stimulants of inflammation and immune responses, among the Th1cytokines. Therefore, it may play a significant role in contributing..

Journal: GenoMed Connect
Research Article

Published: 23 Sep 2024

Identification of Prognostic Biomarkers and Tumor Immune Microenvironment about Uveal Melanoma

Volume 1

Uveal melanoma (UM) is a malignant eye cancer that has a high mortality rate and is notoriously difficult to diagnose clinically. Identifying prognostic biomarkers and evaluating the tumor immune microenvironment for UM in order to improve diagnosis, treatment decisions and even overall survival for patients. The study involved a comprehensive analysis of transcriptome profiling from the TCGA-UVM project, with the aim of identifying biomarkers and exploring the relationship between the..

Journal: GenoMed Connect
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