Around 6,000 to 8,000 distinct rare diseases exist today, with impacts ranging from affecting just a few patients to as many as 245,000 individuals; approximately 80% of these conditions stem from genetic origins.
Common rare diseases include cystic fibrosis, Huntington's disease, muscular dystrophies, Gaucher disease, and Rett syndrome, affecting small patient populations but posing significant health challenges.
Some rare diseases reported in India include Lysosomal Storage Disorders (LSDs), Mucopolysaccharoidosis (MPS), Adrenoleukodystrophy (early stages), Severe Combined Immunodeficiency (SCID), Chronic Granulomatous disease.
Rare disease research is crucial for understanding, diagnosing, and treating conditions that affect a small but significant population, often with limited treatment options.
Technology plays an important role in rare disease research through personalized medicine, genomic sequencing, data integration, patient empowerment, telemedicine, and collaborative research, fostering innovation.
Ethical considerations in rare disease research include ensuring patient privacy, informed consent, equitable access to treatments, and minimizing risks due to limited participant pools.
Without ethical considerations in clinical research, participants' safety and rights may be compromised, undermining the validity and trustworthiness of study outcomes.
Research on rare diseases in India is advancing, focusing on enhancing understanding and treatment options for less common medical conditions.