With research focused on rare diseases, genetics, oncology, and genetic ancestry, students from the School of Health’s research incubators and graduate programs participated in the 6th International Symposium on Human Genetics, organized by the Colombian Association of Human Genetics. During the event, they presented their scientific work in the form of posters and oral presentations, highlighting the academic community’s research talent and its commitment to generating knowledge and strengthening health research.
Among the works presented were five posters exploring issues relevant to biomedical research. The first, titled “Miglustat as the Only Available Disease-Modifying Therapy for Niemann-Pick Type C Disease in Colombia: A Case Report with Clinical Progression Associated with Dose Reduction,” was prepared by Daniela Contreras Duque, Melissa Castillo Basante, and Ana María Navarro Pinilla.
In addition, Karoll Dayanna Díaz Landínez, María Fernanda Salamandra Rey, and Dr. Adriana Castillo Pico presented the paper “Ancestry of Maternal Lineages in the Department of Risaralda, Colombia,” a study focused on population genetic diversity.
In the field of cardiovascular genetics, Juan David Hernández Orduz, Paula Ortega Prada, and Professor Gustavo Adolfo Contreras García presented the poster “Challenges in Cardiovascular Genetic Diagnosis: Toward the Reclassification of the p.Lys1444Glu Variant of MYH7 in the First Reported Case of an Adult Female Patient with Dilated Cardiomyopathy in Colombia.”
Meanwhile, students Natalia Andrea Trujillo Pelayo, Shirley Pitalúa-Lizarazo, Sandra Guauque Olarte, Ana Andrea Herrera Hernández, Fong Reales, Carlos Iván Vargas Castellanos, Laura Cifuentes Cardona, and Professor Fernando Rodríguez Sanabria participated with the study “TP53 Mutational Profile According to HPV Status in Colombian Patients with HNSCC: a whole-exome sequencing study.” This project won third place in the poster category, an achievement recognized by Natalia Andrea Trujillo Pelayo, a doctoral student in Biomedical Sciences.
The fifth study, “Genotypic and Phenotypic Characterization of Malan Syndrome: A Comprehensive Systematic Review,” was conducted by Alejandra Mateus Saavedra, Paula Andrea Espíndola Patiño, Mariana Machado Castillo, Leidy Johanna Rueda Díaz, and Professor Adriana Castillo Pico.
Academic participation also included oral presentations, with the paper “Head and Neck Squamous Cell Carcinoma in Latin America: Mutational Landscape and Regional Genomic Gap: A Systematic Review,” presented by Shirley Pitalúa Lizarazo, a student in the Master’s Program in Basic Biomedical Sciences, along with Natalia Andrea Trujillo Pelayo, Laura Cifuentes Cardona, and Professor Clara Inés Vargas Castellanos.
These results reflect the efforts of students and researchers to contribute to the advancement of biomedical sciences from various fields of knowledge, as well as the importance of scientific forums for sharing findings, strengthening research training, and highlighting the talent of the academic community.
The School of Health celebrates the participation and recognition earned by its students and researchers, who, through scientific rigor and collaborative work, contribute to the advancement of research and the development of knowledge that helps us understand and address today’s health challenges.
