PARLIAMENTARY HEMORRHAGE

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UNDERSTANDING ACMG GUIDELINES & CLINICAL CLASSIFICATION OF GENETIC VARIANTS

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“𝓝𝓸 𝓼𝓲𝓷𝓰𝓵𝓮 𝓵𝓪𝓫𝓸𝓻𝓪𝓽𝓸𝓻𝔂 𝓱𝓪𝓼 𝓮𝓷𝓸𝓾𝓰𝓱 𝓭𝓪𝓽𝓪; 𝓬𝓸𝓵𝓵𝓪𝓫𝓸𝓻𝓪𝓽𝓲𝓿𝓮 𝓬𝓾𝓻𝓪𝓽𝓲𝓸𝓷 𝓲𝓼 𝓽𝓱𝓮 𝓯𝓾𝓽𝓾𝓻𝓮 𝓸𝓯 𝓰𝓮𝓷𝓸𝓶𝓲𝓬 𝓶𝓮𝓭𝓲𝓬𝓲𝓷𝓮.” - Professor Heidi Rehm 🧬 Genomic medicine has moved from discovery to daily clinical decision-making. At the center of this shift are the 2015 standards from the American College of Medical Genetics & Genomics (ACMG), which established a structured framework for interpreting sequence variants.    🔹 Genetic variants influence disease risk, diagnosis, prognosis, & therapeutic strategy. Without standardized interpretation, clinical decisions become inconsistent. The ACMG/AMP framework addresses this by integrating multiple evidence streams into five categories: 1. Pathogenic (Class 5) 2. Likely Pathogenic (Class 4) 3. Variant of Uncertain Significance [VUS] (Class 3) 4. Likely Benign (Class 2) 5. Benign (Class 1) This tiered system reduces interpretive subjectivity & improves reproducibility...
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BALANCED TRANSLOCATION

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"AN EXCHANGE CAN HAPPEN WITHOUT A GAIN OR LOSS, YET IT MAY PRODUCE SOME UNEXPECTED SIDE EFFECTS" 🧬 Balanced translocation is a type of chromosomal rearrangement where two segments of chromosomes are exchanged without any loss or gain of genetic material. This results in a rearrangement of genetic material within the chromosomes without any significant disruption. Balanced translocations typically involve the exchange of segments between non-homologous chromosomes, meaning that the segments are exchanged between different pairs of chromosomes.          🔹 Individuals with balanced translocations often do not display any outward physical signs or symptoms, as the total amount of genetic material remains the same. However, balanced translocations can have implications for health and reproduction. In some cases, balanced translocations can lead to infertility, recurrent miscarriages, or the potential for offspring to inherit unbalanced translocations, which do invo...
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GENE DUPLICATIONS IN EVOLUTIONARY INNOVATION

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"𝔾𝕖𝕟𝕖 𝕕𝕦𝕡𝕝𝕚𝕔𝕒𝕥𝕚𝕠𝕟 𝕡𝕣𝕠𝕧𝕚𝕕𝕖𝕤 𝕒 𝕣𝕖𝕕𝕦𝕟𝕕𝕒𝕟𝕔𝕪 𝕥𝕙𝕒𝕥 𝕗𝕣𝕖𝕖𝕤 𝕠𝕟𝕖 𝕔𝕠𝕡𝕪 𝕗𝕣𝕠𝕞 𝕤𝕖𝕝𝕖𝕔𝕥𝕚𝕧𝕖 𝕔𝕠𝕟𝕤𝕥𝕣𝕒𝕚𝕟𝕥, 𝕒𝕝𝕝𝕠𝕨𝕚𝕟𝕘 𝕚𝕥 𝕥𝕠 𝕖𝕩𝕡𝕝𝕠𝕣𝕖 𝕟𝕖𝕨 𝕗𝕦𝕟𝕔𝕥𝕚𝕠𝕟𝕒𝕝 𝕤𝕡𝕒𝕔𝕖." - Dr. Richard Lewontin 🧬 Gene duplications are a driving force in evolution, offering raw material for innovation. They arise through mechanisms like unequal crossing over, retroposition, or whole-genome duplication (WGD). Once a gene is duplicated, one copy can conserve its original role, while the other diverges; fueling new functions, adaptations, or even nonfunctionalization (pseudogenes).           🔹 The evolutionary fates of gene duplications includes: Subfunctionalization: split ancestral functions across duplicates. Neofunctionalization: gain of new roles, which is vital for innovation. Pseudogenization: loss of function. A classic case is the globin gene family: duplications enabled the evolution of h...
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