Geneticist.

🦴 Osteogenesis Imperfecta (OI) OI is a genetic disorder causing fragile bones that break easily due to defective collagen. 🔍 Causes Mutations in COL1A1 or COL1A2 genes 🧬 Defective type 1 collagen → weak bone structure 🦴❌ ⚠️ Symptoms Frequent bone fractures 💥🦴 Bone deformities and short stature 📏⬇️ Blue sclera (bluish eye whites) 👁️🔵 […]

🧠 Tay-Sachs Disease Overview Tay-Sachs disease is a rare, inherited genetic disorder that destroys nerve cells (neurons) in the brain and spinal cord. It is most commonly seen in infants, though rarer juvenile and adult-onset forms also exist. 🧬 Cause 🧬 Inheritance 🌍 Who Is Affected? 🧒 Symptoms Infantile Tay-Sachs (most common and severe form)