Index

Rare Diseases:

WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources. The average prevalence thresholds used to define rare diseases ranges among different jurisdictions from 1 to 6 cases/10,000 people, with WHO recommending a prevalence less than 10/10,000 population for defining rare diseases.

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Challenge

A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases. Rare diseases are difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience.

What's New

FDA Approves Mirdametinib for adults and children (2+ years) with Neurofibromatosis Type 1 (NF1) and inoperable symptomatic plexiform neurofibromas (PN).
FDA Approves Ctexli (Chenodiol) for the Treatment of Cerebrotendinous Xanthomatosis (CTX) in Adults
MENA Congress for Rare Diseases to be held on 17-20 April 2025 at Abu Dhabi, UAE – A premier event bringing together experts, researchers, and healthcare professionals to discuss the latest advancements in rare disease diagnosis and treatment.

Recent project approvals

Small molecule and gene therapies for Glutaric Aciduria Type I, an Inborn Error of Metabolism (IEM) disorder
3D Bioprintable Hydrogel Implant Containing Engineered Cells for Long Term Treatment of Amyotrophic Lateral Sclerosis
Designing of RNA structure-guided antisense oligonucleotides to rescue SMN2 splicing for developing an indigenous therapy against spinal muscular atrophy
Generation and characterization of a pre-clinical model for the India-specific Agarwal founder mutations in Limb Girdle Muscular Dystrophy Type 2A
Development of Novel EV-based Therapeutic Strategies for the Treatment of Inherited Krabbe Disease, a Type of Lysosomal Storage Disease
Development of targeted nanotherapy for Spinal Muscular Atrophy