Molecular epidemiology driving precision medicine: Unraveling some genetic and environmental determinants in certain Colombian populations

The interplay between molecular epidemiology and precision medicine, coupled with collaborative initiatives may drive Colombia into a new era of healthcare tailored to the individualized genetic profile in the Colombian population. Studying chronic diseases such as Neuromyelitis Optica spectrum disease (NMOSD), chronic kidney disease (CKD), hemophilia A (HA) and B (HB), and von Willebrand disease (VWD) in Colombia is crucial to better understand their prevalence, presentation patterns, and treatment needs in the population. This enables the development of effective prevention, diagnostic, and medical care strategies tailored to the country's specific needs. Increased attention to diversity will increase the accuracy, utility, and acceptability of using this genomic information for clinical care (6). Considering this context, where chronic diseases pose significant health challenges, ME approaches through affordable genetic and bioinformatic research has been applied in this thesis work to address these issues. Three different studies exemplify this integration. The first chapter, divided into two sections, will focus on, first the characterization of HLA class II alleles in NMOSD patients in Colombia, and second, identifying new NMOSD disease biomarkers as well as understanding the studied population structure. The second chapter will focus on understanding the impact of genetic polymorphisms on mercury levels and CKD, and the third chapter will focus on identifying the genetic mutations associated with inherited bleeding disorders in Colombia and developing and implementing low-cost genetic diagnostic methods. Given that Colombia may present one of the highest prevalence rates of NMOSD in Latin America (14), we highlighted the need for further investigation into the contributing factors of this disease. In this sense, understanding the specific HLA class II genetic landscape in our population can provide valuable insights into the complex interplay between genetic predisposition and environmental factors ...