Rare Diseases, Spotlighting Amyotrophic Lateral Sclerosis, Huntington’s Disease, and Myasthenia Gravis: Insights from Landscape Analysis of Current Research

Biochemistry, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

Rare diseases are a diverse group of disorders that, despite each individual condition's rarity, collectively affect significant portion the global population. Currently approximately 10,000 rare exist globally, with 80% these being identified as having genetic origins. In this Review, we examine data from CAS Content Collection to summarize scientific progress in area diseases. We publication landscape an effort provide insights into current advances and developments. then discuss evolution key concepts field, associations, well major technologies development pipelines disease treatments. focus our attention on three specific diseases: (i) amyotrophic lateral sclerosis, terminal neurodegenerative affecting central nervous system resulting progressive loss motor neurons that control voluntary muscles; (ii) Huntington's disease, another causes degeneration nerve cells brain, wide impact person's functional abilities; (iii) myasthenia gravis, chronic autoimmune synaptopathy leading skeletal muscle weakness. While pathogenesis is elucidated, there neither cure nor preventative treatment available, only symptomatic treatment. The objective paper broad overview evolving knowledge specifically biology genetics spotlighted diseases, outline challenges evaluate growth opportunities, aim further efforts solving remaining challenges.

Language: Английский

Insights from CD71 presentation and serum lipid peroxidation in myasthenia gravis – A small cohort study

International Immunopharmacology, Journal Year: 2024, Volume and Issue: 140, P. 112787 - 112787

Published: July 31, 2024

Language: Английский