Unveiling the Genetic Tapestry: Rare Disease Genomics of Spinal Muscular Atrophy and Phenylketonuria Proteins

Abstract excerpt

Rare diseases, defined by their low prevalence, present significant challenges, including delayed detection, expensive treatments, and limited research. This study delves into the genetic basis of two noteworthy rare diseases in Saudi Arabia: Phenylketonuria (PKU) and Spinal Muscular Atrophy (SMA). PKU, resulting from mutations in the phenylalanine hydroxylase (PAH) gene, exhibits geographical variability and impa...

Topics

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• Genomics
• Muscular Atrophy, Spinal
• Mutation
• Phenylalanine Hydroxylase
• Phenylketonurias
• Rare Diseases
• Saudi Arabia
• Survival of Motor Neuron 1 Protein

Identifiers and source

Literature Corpus work

082a48c6-dbf4-57f6-b34e-00febb9df593

DOI

10.1101/2023.11.27.568432