Mrs. Arsénia Massinga

I am a biologist pursuing my PhD in molecular genetics at the Université Paul Sabatier since October 2025, and I am passionate about and curious about deciphering the molecular mechanisms underlying rare and/or emerging diseases.
I have a bachelor's degree in Applied Biology from the Eduardo Mondlane University and a Master’s degree in Molecular Biology and Genetics from the University of Lisbon. During my master’s degree, I spent a year at a Biosystem and Integrative Sciences Institute (BioISI) laboratory, where I did my master’s project. During this time, I conducted research to characterize mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and to devise methods to correct them. The project aimed to establish the link between single-allele mutations in the CFTR gene and the development of chronic respiratory diseases, such as asthma, bronchiectasis, and chronic obstructive pulmonary disease, distinct from classic recessive cystic fibrosis. After my master’s degree, I returned to my home country with a profound interest in understanding the molecular mechanisms underlying genetic diseases and why some genetic diseases do not occur in Africa or Mozambique. This drove me to seek research opportunities in molecular biology or genetics, and I worked as a cytogenetics trainee at Maputo Central Hospital. I integrated a team that operationalized the first public cytogenetic laboratory in Mozambique, where we successfully validated and implemented the classical cytogenetic method, banding G, to detect chromosomal aberrations. Our efforts resulted in the diagnosis of numerous syndromes and genetic disorders that I was not expecting to identify. What caught my attention was the fact that in every five patients we karyotyped, three indicated a disorder of sex development (DSD) with ambiguous genitalia, which was a novel finding at the time. Unfortunately, due to the lack of capacity and expertise, these patients could not be further characterized and managed adequately, and some of them underwent surgeries; however, they had post-operative complications. I believe that with the right tools, expertise, and mechanisms to study each case in depth, we could have stronger evidence to make better clinical decisions and manage those patients.
In 2019, I joined the Mnahiça Health Research Center as a junior researcher, where I was actively involved in molecular biology projects related to infectious diseases and their pathogenesis. My research primarily focused on molecular characterization of Klebsiella pneumoniae causing sepsis in children under 5 years old that leads to severe or fatal diseases. One year later, I was integrating a team that established genomic surveillance and immunologic studies of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the Manhiça district. Through this experience, I have gained a profound understanding of the intricacies of infectious diseases, host-pathogen interactions, and the molecular mechanisms underlying them. During my work in Manhiça, I also joined the bioethics committee, where I learned and later became a trainer on study design and implementation with an ethical perspective.
My passion for uncovering the underlying mechanisms of complex genetic and molecular processes has led me to seek opportunities to contribute and develop my skills and expertise in molecular genetics, and now to study a passion I found during my internship in Mozambique. I am actually doing a project on variations in sex development, where I use new technologies and techniques to decipher genes related to such conditions.