Journal of Clinical & Medical Genomics

ISSN: 2472-128X

Open Access

Articles in press and Articles in process

    Short Communication Pages: 1 - 2

    Cancer Marker Immunosensing through Surface Enhanced Photoluminescence on Nanostructured Silver Substrates

    Xiaoli Duan

    Cancer detection and diagnosis have been revolutionized by advancements in nanotechnology and surface-enhanced spectroscopy techniques. This article explores the application of Surface-Enhanced Photoluminescence (SEPL) on nanostructured silver substrates for the immunosensing of cancer markers. We delve into the principles behind SEPL, the fabrication of nanostructured silver substrates, and the integration of antibodies for selective cancer marker detection. Additionally, we discuss the potential implications of this technology in early cancer diagnosis and personalized medicine. Cancer remains one of the most pressing health challenges globally, with early detection playing a crucial role in improving patient outcomes. Conventional cancer diagnostics often rely on invasive procedures and may lack sensitivity and specificity. However, emerging technologies, such as surface-enhanced spectroscopy, offer promising avenues for sensitive and selective cancer detection. In this article, we focus on the application of Surface Enhanced Photoluminescence (SEPL) on nanostructured silver substrates for the immunosensing of cancer markers.

    Perspective Pages: 1 - 2

    Understanding the Association of KRAS G12C Status with Age at Onset of Metastatic Colorectal Cancer

    Chloe Reble

    Colorectal Cancer (CRC) remains a significant health burden globally, with metastatic disease posing a considerable challenge in management and prognosis. The KRAS gene mutation, particularly the G12C mutation, has garnered attention for its role in driving CRC progression. This article explores the association between KRAS G12C status and the age at onset of metastatic CRC. Understanding this association is crucial for personalized treatment strategies and improving outcomes in CRC patients, Colorectal Cancer (CRC) is one of the most prevalent malignancies worldwide, with a substantial impact on morbidity and mortality. While early detection and treatment have improved outcomes, metastatic CRC presents a formidable challenge due to its advanced stage at diagnosis and limited treatment options. KRAS mutations, particularly the G12C mutation, have emerged as significant drivers of CRC progression, influencing disease aggressiveness and therapeutic response. This article aims to examine the relationship between KRAS G12C status and the age at onset of metastatic CRC, shedding light on its implications for clinical management

    Commentary Pages: 1 - 2

    The Genomic Risks of Long term Cryopreservation: Unfreezing the Dangers

    Chloe Reble

    Cryopreservation, the process of preserving biological material at extremely low temperatures, holds promise in various fields, from medical research to reproductive technology. However, as we delve deeper into the realm of long-term cryopreservation, particularly concerning human genetic material, we confront a host of genomic risks that demand attention. While cryopreservation offers avenues for preserving life and genetic information, unfreezing the dangers reveals complexities that extend beyond simple preservation. At the forefront of genomic risks lies the potential for genetic mutations during the freezing and thawing processes. The delicate balance of cellular structures can be disrupted, leading to DNA damage and alterations. These mutations may remain dormant for extended periods, only to manifest later, posing significant health risks to individuals whose genetic material undergoes cryopreservation. Such mutations could contribute to the development of diseases or compromise the integrity of stored genetic information, impacting future applications, including reproductive technologies and regenerative medicine. Moreover, the epigenome, which orchestrates gene expression patterns without altering the underlying DNA sequence, is susceptible to alterations during cryopreservation.

    Brief Report Pages: 1 - 2

    Detection of Genomic Structural Variations Associated with Drug Sensitivity

    Katri Sarvi

    In the era of precision medicine, unravelling the intricate relationship between genomic structural variations and drug sensitivity has emerged as a critical frontier in personalized therapeutics. Structural Variations (SVs), including insertions, deletions, inversions, and translocations, play a pivotal role in shaping the genetic landscape of individuals and contribute significantly to inter-individual variability in drug response. Detecting and characterizing these SVs offer invaluable insights into the mechanisms underlying drug sensitivity, paving the way for tailored treatment strategies and improved patient outcomes. One of the primary challenges in deciphering the impact of genomic SVs on drug sensitivity lies in accurately identifying and characterizing these variations within the vast expanse of the human genome. Traditional sequencing techniques often overlook SVs or provide incomplete information due to limitations in read length, resolution, and coverage. However, recent advancements in high-throughput sequencing technologies, such as Next Generation Sequencing (NGS) and long-read sequencing, have revolutionized the detection and characterization of SVs with unprecedented accuracy and depth.

    Commentary Pages: 1 - 1

    Exploring the Interaction between Clspn Gene Polymorphisms: Implications for Health and Disease

    Katri Sarvi

    Genetic polymorphisms play a significant role in individual variations in health outcomes and disease susceptibility. The CLSPN gene, encoding Claspin protein, is pivotal in the DNA damage response pathway, contributing to genome stability. Polymorphisms in CLSPN have been associated with various diseases, including cancer and neurodegenerative disorders. This article aims to explore the interaction between CLSPN gene polymorphisms and their implications for health and disease, shedding light on potential diagnostic and therapeutic avenues. The CLSPN gene, located on chromosome 1p13.3, encodes the Claspin protein, an essential regulator of the DNA Damage Response (DDR) pathway. Claspin functions as a mediator protein, facilitating the activation of the checkpoint kinase CHK1 in response to DNA damage, thereby orchestrating cell cycle arrest and DNA repair processes. Given its crucial role in maintaining genomic integrity, genetic variations in CLSPN have garnered significant attention for their potential implications in health and disease [

    Mini Review Pages: 1 - 2

    Sickle Cell Disease Update: New Treatments and Challenging Nutritional Considerations

    Xiaoli Duan

    Sickle Cell Disease (SCD) remains a significant health challenge globally, particularly affecting populations of African descent. While advancements in treatment have improved outcomes for individuals with SCD, the disease still presents complex medical and nutritional considerations. In this article, we will explore the latest developments in SCD treatment and the nutritional challenges patients face. SCD is a genetic disorder characterized by abnormal haemoglobin, called Hemoglobin S (HbS), which causes red blood cells to assume a sickle shape under certain conditions. These sickled cells can block blood flow, leading to pain, organ damage, and other complications. The severity of symptoms varies among individuals, with some experiencing mild discomfort and others facing life-threatening complications.

    Short Communication Pages: 1 - 2

    Harnessing Artificial Intelligence for Predicting Microsatellite Instability and KRAS/BRAF Mutations in Cancer: A Revolutionary Approach

    Maria Getino

    Cancer remains one of the most challenging health issues worldwide, with its complexity often defying conventional diagnostic and treatment approaches. In recent years, the integration of Artificial Intelligence (AI) into healthcare has shown promising results in various domains, including cancer diagnosis and prognosis. Among the critical molecular markers in cancer, Microsatellite Instability (MSI) and mutations in genes such as KRAS and BRAF hold significant prognostic and therapeutic implications. This article explores the revolutionary role of AI in predicting MSI, KRAS, and BRAF mutations, revolutionizing cancer management strategies, Microsatellites are short, repetitive DNA sequences scattered throughout the genome. MSI refers to the accumulation of errors (insertions or deletions) in these repetitive sequences due to impaired DNA mismatch repair mechanisms. MSI has emerged as a hallmark of several cancers, notably Colorectal Cancer (CRC), endometrial cancer, and gastric cancer, influencing prognosis and therapeutic response. KRAS and BRAF genes encode proteins involved in intracellular signalling pathways regulating cell growth and differentiation. Mutations in these genes are frequently encountered in various cancers, particularly CRC, impacting tumour behaviour and therapeutic susceptibility. For instance, KRAS mutations are associated with resistance to anti-EGFR (Epidermal Growth Factor Receptor) therapies in CRC patients

    Mini Review Pages: 1 - 2

    Enzymes Immobilized into Starch and Gelatin Based Hydrogels: Applications, Advantages and Challenges

    Myles Carlie

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    Enzyme immobilization within hydrogel matrices offers a promising avenue for enhancing enzyme stability, reusability, and activity retention. Starch- and gelatin-based hydrogels have emerged as versatile matrices for enzyme immobilization due to their biocompatibility, biodegradability, and ease of fabrication. This article provides an overview of the methods for immobilizing enzymes into starch- and gelatin-based hydrogels, explores their applications across various industries, discusses the advantages and challenges associated with this approach, and highlights recent advances in the field.

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