Lorena Ivette Santa María Vasquez, PhD

Dr Santa Maria is the director of the Molecular Cytogenetic Laboratory-INTA of the Universidad de Chile that conducts clinical research in the area of ​​neurogenetics and performs updated methodologies for the molecular diagnosis of the most prevalent genetic diseases such as FXS, Prader Willi/Angelman syndrome, velocardiofacial syndrome, Williams syndrome, among others. She conducted her undergraduate and doctoral theses studying the differentiation of mesenchymal cells. She completed her postdoctoral internship at the Laboratory of Molecular and Cellular Neurobiology of the Faculty of Medicine of the Universidad de Chile. In 2008, she returned to work at the Molecular Cytogenetic Laboratory in charge of MSc. M. Angélica Alliende that has been participating in the development of clinical cytogenetic research for more than 30 years, contributing to the training of new professionals and the understanding of the genetic basis of neurological and cognitive disorders of genetic diseases with intellectual deficit and/or autism. She is currently the director of the Specialization Course in Clinical Cytogenetics (Decree # 007585 Universidad de Chile) that includes a permanent update in the molecular cytogenetic diagnosis of genetic and neoplastic diseases.