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9 articles for “Genetic counseling”
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Genetic Counseling: A Pathway to Understanding and Managing Inherited Health Risks
Abstract: Genetic counseling is an essential aspect of personalized medicine that supports individuals and families in understanding the implications of inherited health conditions. With the rising prevalence of genetic disorders and advancements in genomic technologies, counseling provides critical insights into risk factors, diagnostic options, and informed decision-making. This paper explores the classification of genetic disorders, major genetic and environmental causes, and the expanding role of genetic counseling within India’s culturally diverse …
Published in International Journal of Evidence Based Nursing And Practices · Vol. 4, Issue 1, 2026 · pp. 10–14 Read article
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FutureGen – Predicting Genetic Health
Abstract: FutureGen is an intelligent web-based system developed to help couples assess the risk of genetic disorders in their future child through data-driven analysis. The system brings together modern web technologies and machine learning to offer accurate and accessible predictions. The frontend, built with React, provides an intuitive interface for user interaction, while a Flask-based backend API handles model inference and manages communication with the Supabase database, which securely stores user …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 4, Issue 1, 2026 Read article
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Thalassemia and its management – A review article
Abstract: Thalassemia is a hemoglobinopathy burdening India making it earn title of Thalassemia capital of world. Studying last decade, the overall prevalence worldwide and incidence rates have declined but prevalence rates were high in east and Southeast Asian countries. Screening for carriers and affected individuals and genetic counselling are promising approaches for reducing soaring cases and reducing the further spread. Thalassemia affects various organs due to iron overload and haemolysis leading …
Published in International Journal of Tropical Medicines · Vol. 2, Issue 1, 2025 · pp. 60–73 Read article
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An Overview of Fanconi Anemia: A Genetic Disorder
Abstract: Fanconi Anemia (FA) is a rare genetic disorder caused by DNA repair defects due to pathogenic variants in one of 21 genes. It is the primary cause of inherited bone marrow failure, marked by pancytopenia. Clinically, Fanconi Anemia (FA) is associated with congenital malformations in multiple systems, resulting in progressive bone marrow failure and heightened cancer risk, especially in the urogenital region and the head and neck. There are approximately …
Published in International Journal of Oncological Nursing and Practices · Vol. 2, Issue 2, 2024 · pp. 19–25 Read article
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FMR1 Key Biomarker in Fragile X Syndrome- A Comprehensive Review
Abstract: Fragile X Syndrome (FXS) is a complicated neurodevelopmental condition that causes intellectual disabilities, behavioural issues, and a variety of physical symptoms. Central to understanding FXS is the Fragile X Mental Retardation 1 (FMR1) gene, pivotal in the disorder's pathogenesis. This review examines FMR1 as a key biomarker in FXS, drawing on recent research insights. The FMR1 gene, situated on the X chromosome, encodes the fragile X mental retardation protein (FMRP), …
Published in International Journal of Brain Sciences · Vol. 1, Issue 2, 2024 · pp. 8–18 Read article
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Exploring the Genetic and Environmental Factors Contributing to Ovarian Cancer in Women in Mumbai, India
Abstract: Background: Ovarian cancer incidence in Mumbai has risen by 30% over the past decade, with an age-standardized rate of 9.1 per 100,000 women, contrasting stable trends in Western nations. This study investigates the interplay of genetic and environmental factors driving this disparity in Mumbai’s diverse population. Methods: A hospital-based case-control study was conducted at a hospital, enrolling 200 epithelial ovarian cancer cases (aged 30–70 years) and 400 age-matched controls. Germline …
Published in Research and Reviews: Journal of Oncology and Hematology · Vol. 14, Issue 3, 2025 · pp. 12–17 Read article
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Multifactorial Diseases Becoming the Epigenetic Factor for the Genz
Abstract: This comprehensive paper investigates the complex interplay between multifactorial diseases, particularly obesity and cardiovascular disease (CVD), and their relationship with epigenetic mechanisms, highlighting the transgenerational implications of these interactions. The multifaceted nature of obesity and CVD, involving genetic predisposition, environmental influences, and epigenetic modifications, underscores the intricate pathways contributing to disease susceptibility and progression. Drawing upon a synthesis of diverse research findings, the paper elucidates the critical role of genetic …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 2, Issue 1, 2024 · pp. 16–22 Read article
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Current Perspectives of Prader -Willi Syndrome: A Multisystem Approach
Abstract: Prader-Willi syndrome (PWS) is a genetic disorder with multisystem involvement, caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both. It is a complex and contiguous gene disorder which affects the multiple systems with many clinical presentations especially hypothalamic insufficiency. The clinical features are characterized by short stature position, developmental delay, cognitive …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 14, Issue 2, 2024 · pp. 42–48 Read article
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Paternal Pre-Pubertal Smoking: Small RNAs, Lasting Marks, and the Hidden Legacy of Early Exposure
Abstract: While the negative effects of maternal smoking during pregnancy are well-established, the lasting and transgenerational impact of paternal pre-pubertal smoking remains a critical, underexplored area. Emerging evidence in sperm epigenetics suggests that cigarette exposure during early male development may create persistent molecular imprints that can affect the health of future offspring. This phenomenon is rooted in the fact that heredity extends beyond the DNA sequence. Sperm carry a complex epigenetic …
Published in Emerging Trends in Personalized Medicines · Vol. 3, Issue 1, 2026 · pp. 1–5 Read article