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Aug 21, 2025Focus on Rare Diseases | Issue 1: Non-Syndromic Hearing Loss (NSHL)Hereditary hearing loss can be classified into two types: Syndromic Hearing Loss (SHL) and Non-Syndromic Hearing Loss (NSHL). NSHL is the most common form, accounting for about 70% of all genetic hearing loss cases. -
Aug 21, 2025Focus on Rare Diseases | Issue 2: Duchenne Muscular Dystrophy (DMD)Duchenne Muscular Dystrophy (DMD) is a rare X-linked recessive genetic disorder primarily caused by mutations in the DMDgene, leading to the absence of dystrophin, a protein crucial for maintaining the stability of muscle cell membranes. -
Aug 21, 2025Focus on Rare Diseases | Issue 3: Transthyretin Amyloidosis (ATTR)Transthyretin Amyloidosis (ATTR) is a rare systemic disorder caused by the deposition of amyloid fibrils derived from misfolded transthyretin (TTR) protein.

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