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CHROMOSOMAL DISORDERS: TRISOMIES AND DELETIONS

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“𝓣𝓸 𝓾𝓷𝓭𝓮𝓻𝓼𝓽𝓪𝓷𝓭 𝓽𝓱𝓮 𝓸𝓻𝓰𝓪𝓷𝓲𝓼𝓶, 𝓸𝓷𝓮 𝓶𝓾𝓼𝓽 𝓾𝓷𝓭𝓮𝓻𝓼𝓽𝓪𝓷𝓭 𝓲𝓽𝓼 𝓬𝓱𝓻𝓸𝓶𝓸𝓼𝓸𝓶𝓮𝓼 𝓲𝓷 𝓽𝓱𝓮𝓲𝓻 𝓷𝓸𝓻𝓶𝓪𝓵 𝓼𝓽𝓪𝓽𝓮 𝓪𝓷𝓭 𝔀𝓱𝓮𝓷 𝓻𝓮𝓪𝓻𝓻𝓪𝓷𝓰𝓮𝓭.” - Barbara McClintock 🧬 Chromosomal disorders arise from abnormalities in chromosome number or structure, disrupting gene dosage and developmental pathways. Among them, trisomies & deletions are clinically and biologically significant due to their impact on embryogenesis, neurodevelopment, and long-term health.      🔹 Down syndrome (Trisomy 21) is the most prevalent autosomal trisomy compatible with postnatal survival. It is characterized by intellectual disability, congenital heart defects, endocrine dysfunction, and increased leukemia & early-onset Alzheimer risk. Other severe trisomies include: • Edwards syndrome • Patau syndrome These conditions often result in profound multisystem anomalies & high neonatal mortality. Most trisomies arise from meiotic nondisjun...

INBORN ERRORS OF METABOLISM: UNDERSTANDING GENETIC DISORDERS

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“𝓔𝓪𝓻𝓵𝔂 𝓭𝓮𝓽𝓮𝓬𝓽𝓲𝓸𝓷 𝓽𝓻𝓪𝓷𝓼𝓯𝓸𝓻𝓶𝓼 𝓲𝓷𝓫𝓸𝓻𝓷 𝓮𝓻𝓻𝓸𝓻𝓼 𝓸𝓯 𝓶𝓮𝓽𝓪𝓫𝓸𝓵𝓲𝓼𝓶 𝓯𝓻𝓸𝓶 𝓭𝓮𝓿𝓪𝓼𝓽𝓪𝓽𝓲𝓷𝓰 𝓭𝓲𝓼𝓮𝓪𝓼𝓮𝓼 𝓲𝓷𝓽𝓸 𝓶𝓪𝓷𝓪𝓰𝓮𝓪𝓫𝓵𝓮 𝓬𝓸𝓷𝓭𝓲𝓽𝓲𝓸𝓷𝓼.” - Professor Bridget Wilcken 🧬 Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders caused by defects in enzymes or transporters essential for normal metabolic pathways. These defects lead to toxic metabolite accumulation or deficiency of critical compounds, resulting in significant morbidity and mortality if untreated. Advances in biochemical genetics and newborn screening have dramatically improved outcomes.           🔹 Major Classes of IEM are commonly classified by the affected pathway: • Amino acid disorders (e.g., phenylketonuria, maple syrup urine disease), • Carbohydrate metabolism disorders (e.g., galactosemia), • Lipid metabolism disorders (e.g., Gaucher disease, Tay-Sachs disease), • Organic aci...

INTEGRATIVE REVIEW: FROM GENE TO SOCIETY

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“𝓖𝓮𝓷𝓮𝓼 𝓪𝓻𝓮 𝓷𝓮𝓬𝓮𝓼𝓼𝓪𝓻𝔂, 𝓫𝓾𝓽 𝓽𝓱𝓮𝔂 𝓪𝓻𝓮 𝓷𝓸𝓽 𝓼𝓾𝓯𝓯𝓲𝓬𝓲𝓮𝓷𝓽.” - Ruth Sager 🧬 Understanding human behavior and health requires moving beyond genetic determinism toward an integrative framework that connects genes, environments, and social structures. Advances in behavioral genetics demonstrate that traits such as cognition, temperament, and vulnerability to mental disorders show moderate heritability. Twin and genome-wide studies consistently confirm genetic contributions to these outcomes. Yet, genetic influence alone explains only part of the variance.           🔹 Importantly, gene-environment interactions illustrate that genetic predispositions are context-dependent. A genetic liability for anxiety or depression, for example, may remain latent unless activated by chronic stress, poverty, or trauma. This insight reframes disease risk as a product of both biological susceptibility and social deter...

UNDERSTANDING FUNCTIONAL GENOMICS: UNLOCKING GENE FUNCTION

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“𝓖𝓮𝓷𝓸𝓶𝓮 𝓮𝓭𝓲𝓽𝓲𝓷𝓰 𝓱𝓪𝓼 𝓽𝓾𝓻𝓷𝓮𝓭 𝓯𝓾𝓷𝓬𝓽𝓲𝓸𝓷𝓪𝓵 𝓰𝓮𝓷𝓸𝓶𝓲𝓬𝓼 𝓲𝓷𝓽𝓸 𝓪𝓷 𝓮𝔁𝓹𝓮𝓻𝓲𝓶𝓮𝓷𝓽𝓪𝓵 𝓼𝓬𝓲𝓮𝓷𝓬𝓮 𝓻𝓪𝓽𝓱𝓮𝓻 𝓽𝓱𝓪𝓷 𝓪𝓷 𝓸𝓫𝓼𝓮𝓻𝓿𝓪𝓽𝓲𝓸𝓷𝓪𝓵 𝓸𝓷𝓮.” - Jennifer Doudna 🧬 Functional genomics marks a shift from reading genomes to understanding what genes do. Unlike classical genomics, which focuses on DNA sequence and structure, functional genomics interrogates gene expression, regulation, protein function, and interaction networks that collectively shape phenotype.           🔹 At its core, functional genomics asks how genes behave in real biological contexts across tissues, developmental stages, and environmental conditions. This systems-level perspective has been enabled by high-throughput technologies and computational biology, transforming molecular biology into a data-driven science.           🔹 Key Methodological Pillars ?...

GENE-ENVIRONMENT INTERACTIONS: THE INTERPLAY OF NATURE AND NURTURE

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“𝓤𝓷𝓭𝓮𝓻𝓼𝓽𝓪𝓷𝓭𝓲𝓷𝓰 𝓭𝓲𝓼𝓮𝓪𝓼𝓮 𝓻𝓮𝓺𝓾𝓲𝓻𝓮𝓼 𝓾𝓷𝓭𝓮𝓻𝓼𝓽𝓪𝓷𝓭𝓲𝓷𝓰 𝓫𝓸𝓽𝓱 𝓰𝓮𝓷𝓮𝓼 𝓪𝓷𝓭 𝓽𝓱𝓮 𝓬𝓸𝓷𝓽𝓮𝔁𝓽𝓼 𝓲𝓷 𝔀𝓱𝓲𝓬𝓱 𝓽𝓱𝓮𝔂 𝓸𝓹𝓮𝓻𝓪𝓽𝓮.” - Mary-Claire King 🧬 The long-standing debate of nature versus nurture has evolved. Contemporary genetics and behavioral science now emphasize gene-environment interactions (G×E); a dynamic framework explaining how biological predispositions and lived experiences jointly shape health and behavior.          🔹 Genetic predisposition reflects inherited variants that influence susceptibility to traits and diseases, ranging from cardiometabolic disorders to neuropsychiatric conditions. However, genes rarely act alone. Their effects are probabilistic, not deterministic.           🔹 Environmental factors; nutrition, stress, education, socioeconomic conditions, culture, and lifestyle can amplify, buffer, or redirect genetic risks. ...

TRANSCRIPTION AND RNA PROCESSING: THE REQUISITE STEPS IN GENE EXPRESSION

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“𝓑𝓲𝓸𝓵𝓸𝓰𝓲𝓬𝓪𝓵 𝓼𝔂𝓼𝓽𝓮𝓶𝓼 𝓪𝓻𝓮 𝓫𝓾𝓯𝓯𝓮𝓻𝓮𝓭 𝔂𝓮𝓽 𝓹𝓸𝓲𝓼𝓮𝓭 𝓯𝓸𝓻 𝓬𝓱𝓪𝓷𝓰𝓮.” - Professor Susan Lindquist 🧬 The central dogma of molecular biology describes the directional flow of genetic information from DNA to RNA to protein. At the heart of this process lie transcription and RNA processing, two tightly regulated steps that determine how genetic information is converted into functional biological output.        🔹 Transcription is the first stage of gene expression, during which RNA polymerase synthesizes a complementary RNA strand from a DNA template. This process proceeds through initiation, elongation, and termination. Transcription begins when transcription factors bind promoter regions, recruiting RNA polymerase and enabling DNA strand separation. As elongation proceeds, ribonucleotides are added in a 5′→3′ direction, producing a growing RNA transcript. Termination occurs once RNA polymerase encounters sequence-specific s...

CHROMOSOME ORGANIZATION AND KARYOTYPES: THE BLUEPRINTS OF GENETIC IDENTITY

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“𝓚𝓪𝓻𝔂𝓸𝓽𝔂𝓹𝓲𝓬 𝓿𝓪𝓻𝓲𝓪𝓽𝓲𝓸𝓷 𝓹𝓻𝓸𝓿𝓲𝓭𝓮𝓼 𝓸𝓷𝓮 𝓸𝓯 𝓽𝓱𝓮 𝓬𝓵𝓮𝓪𝓻𝓮𝓼𝓽 𝓬𝔂𝓽𝓸𝓵𝓸𝓰𝓲𝓬𝓪𝓵 𝔀𝓲𝓷𝓭𝓸𝔀𝓼 𝓲𝓷𝓽𝓸 𝓰𝓮𝓷𝓸𝓶𝓮 𝓮𝓿𝓸𝓵𝓾𝓽𝓲𝓸𝓷.” - Prof. Patricia Ann Jacobs 🧬 Chromosomes are the structural and functional units of heredity. Beyond DNA sequence, their organization within the nucleus plays a decisive role in gene regulation, genome stability, and cellular identity.         🔹 At the molecular level, chromosomes consist of DNA wrapped around histone proteins, forming chromatin. This hierarchical packaging allows meters of DNA to fit within a micrometer-scale nucleus while remaining dynamically accessible. During interphase, chromatin adopts an open configuration that supports transcription, whereas during mitosis and meiosis it condenses into discrete chromosomes, ensuring accurate segregation. Each chromosome is structurally defined by its centromere, creating a short (p) and long (q) arm. Cent...