Indian Journal of Genetics and Molecular Research

Over the past three decades, advances in diagnostic technologies have significantly improved the identification of genetic ocular disorders, strengthening the convergence of ophthalmology and clinical genetics. As ophthalmic genetics emerges as a distinct subspecialty, highlighting the rising need for clinicians with expertise in this area, this review summarizes its core principles and the evolution of diagnostic approaches, including next-generation sequencing. Through selected case examples we illustrate how molecular findings refine clinical diagnoses. Additionally, this review also addresses key challenges in ocular genetics and the solutions being implemented to address them. Together, this review highlights the importance of multidisciplinary collaboration in improving care for individuals with genetic ocular disorders.

Ebolavirus disease remains one of the most devastating viral hemorrhagic fevers, causing recurrent outbreaks with high case-fatality rates and substantial socioeconomic disruption. The ongoing outbreak caused by Bundibugyo virus in the Democratic Republic of Congo and Uganda has highlighted important gaps in preparedness because no licensed vaccine or species-specific antiviral therapy currently exists for this Ebolavirus species. Advances in molecular virology have substantially improved understanding of Ebolavirus genome organization, replication, immune evasion, and pathogenesis, thereby informing the development of diagnostics, therapeutics, and vaccine candidates. This review summarizes the genomic organization and replication strategy of Ebolaviruses, with particular emphasis on Bundibugyo virus, and discusses how its genetic divergence from Zaire Ebolavirus complicates vaccine development. The article also examines the biological and public health significance of the ongoing outbreak and identifies future priorities for genomic surveillance and the development of broadly protective medical countermeasures.

Ribosomopathies are a group of disorders caused by mutations in ribosomal proteins or ribosome biogenesis factors. Despite the ubiquitous requirement for ribosomes in all cells, these disorders manifest as tissue-specific developmental abnormalities, bone marrow failure and an increased predisposition to cancer. A hallmark of ribosomopathies is the paradox of cellular hypo- to hyperproliferation, whereby defective ribosome biogenesis initially activates the p53-mediated stress response, leading to cell-cycle arrest, apoptosis, and impaired tissue growth but subsequently promotes the emergence of cells that bypass these checkpoints and undergo malignant transformation. This mini-review aims to summarize the current understanding of ribosomopathies. The first section provides an overview of ribosome structure, biogenesis, and function, followed by a discussion of the phenotypic spectrum of ribosomopathies and their underlying genetic mutations. The review then examines the paradox of cellular hypo- to hyperproliferation and the molecular mechanisms proposed to explain this phenomenon. Given the role of ribosomopathies in a wide spectrum of clinical diseases, a deeper knowledge of the major molecular pathways, genetic changes and pathogenic mechanisms would facilitate translational research and promote the development of tailored therapeutic approaches.

Chromosomal mis-segregation events in cancer are increasingly being recognized as driving factors behind the pathology. Despite the existence of several checkpoints in the cell to monitor and stop events leading to cancerous growth newer research data are discovering several forms of structural variations in wide range of cancers. Chromothripsis, characterized by tens to hundreds of structural rearrangements resulting in intricate changes to one or a few chromosomes, has become a remarkable and mysterious occurrence in biology. The resulting derivative chromosome is very different from its original structure, and it has been found to have a unique mutation signature in a number of malignancies. The present review aims to summarize the current knowledge in this area with sections dedicated to Genomic instability and chromothripsis, causes and consequences and Chromosome dynamics and chromothripsis. Last two sections are directed towards the spectrum of diseases affected by chromothripsis and the therapeutic approaches. The topic offers several useful insights into the biology of genome stability and chromosomal dynamics. Detailed cell biology and live-cell studies, and omics research will help uncover the genotype-phenotype relationship and pave way for therapeutic interventions.