Abubakar Abubakar

WEEKEND READS 📚

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September 15, 2024

Recommended book of the weekend: 🍃 ☕

➡️ "DARWIN'S RADIO" By Greg bear

🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

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UNDERSTANDING ACMG GUIDELINES & CLINICAL CLASSIFICATION OF GENETIC VARIANTS

March 19, 2026

“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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"YOU MADE IT THROUGH PANDEMICS, BUT THERE'S STILL A FIFTH DISEASE" 🧬 Erythema Infectiosum, also known as Fifth Disease, is a viral infection caused by parvovirus B19. It is most common in children but can affect people of all ages. The characteristic symptom of erythema infectiosum is a distinctive rash on the cheeks giving a "slapped cheek" appearance, followed by a lacy rash on the trunk and limbs. 🔬Diagnosis of erythema infectiosum is usually based on the characteristic rash and a history of exposure to the virus. In some cases, blood tests may be done to confirm the presence of parvovirus B19 antibodies. 💊 Treatment for erythema infectiosum is usually symptomatic, as the infection typically resolves on its own. Rest, fluids, and over-the-counter pain relievers may be recommended to alleviate symptoms. 💉 Preventing the spread of erythema infectios...