GENETIC ENIGMAS IN SOME RARE DISEASES

Amaan Khan and Dr. Dinesh Kumar Jain*

ABSTRACT

Rare diseases present unique challenges and opportunities for exploring genetic mechanisms and developing innovative therapies. This review examines the intricacies of genetic research in rare monogenic disorders With an emphasis on progress in conditions like Zellweger spectrum disorder (ZSD), cystic fibrosis (CF), and Huntington's disease (HD), each of these disorders highlights the complex relationship between genetic mutations and clinical symptoms, demonstrating how molecular discoveries can improve diagnostics and treatment strategies. Research on ZSD has revealed potential therapeutic options, including chaperone treatments designed to restore protein function. The treatment approach for CF has evolved from simply managing symptoms to adopting precision medicine, with CFTR modulators and emerging gene therapies offering transformative possibilities. For HD, advancements in RNA interference and antisense oligonucleotides present promising avenues for modifying disease progression. The review also addresses the ethical considerations surrounding genetics in rare diseases, such as informed consent, data privacy, equitable access, and the psychosocial impacts on patients and their families. These ethical concerns are vital as gene-editing technologies and personalized medicine continue to reshape the research landscape. In conclusion, this review underscores the importance of integrating genetic, molecular, and ethical viewpoints to enhance understanding, diagnostics, and treatments for rare diseases. Continued collaboration between researchers, clinicians, and policymakers will be essential in overcoming these challenges and turning discoveries into tangible benefits for patients.

Keywords: Genetic mechanisms, Monogenic disorders, Zellweger spectrum disorder (ZSD), Cystic fibrosis (CF), Huntington's disease (HD), Genetic mutations, Clinical outcomes, Molecular discoveries, Chaperone treatments, CFTR modulators, Gene therapies, CRISPR/Cas9, m