New thesis on novel genetic causes of childhood cancer predisposition
Carolina Maya-González, from the research group Rare Diseases at the Department of Molecular Medicine and Surgery, will defend her thesis "Novel genetic causes of childhood cancer predisposition" on March 21st, 2025.
Main supervisor is Ann Nordgren.
What's the main focus of your thesis?
My thesis focused on finding novel inherited genetic associations with childhood cancer development. In the studies, we use different methods such as massive parallel sequencing, cell and molecular techniques, literature reviews and epidemiology to increase our understanding of pediatric cancer predisposition syndromes.
Which are the most important results?
The most important results in my thesis include the compilation of a pediatric predisposition gene panel which can be used to evaluate novel gene-disease associations in childhood cancer. We also report the clinical and genetic characteristics of interesting co-occurrences of Prader-Willi syndrome, Marfan Syndrome, or Limb-Girdle muscular dystrophy and pediatric solid tumors. Further, with information from the Swedish registries, we delineate the cancer risk spectrum in Prader–Willi syndrome, muscular dystrophy and myotonic dystrophy. Finally, we characterize the clinical, genetic and molecular mechanisms of a novel autosomal recessive syndrome with global developmental delay, immunodeficiency and B-cell leukemia, caused by hypomorphic variants in the FLCN gene.
How can this new knowledge contribute to the improvement of people’s health?
Increasing our understanding of pediatric cancer predisposition has implications for patients’ diagnosis. In turn, this can result in improved treatment, surveillance and genetic counseling. Long term, we hope that new knowledge in pediatric cancer predisposition can also be translated into tailored treatments for patients.
What are your future ambitions?
I am very passionate about understanding the interplay between human genetics and disease. Therefore, I hope to continue working in the field of rare diseases and cancer. As a first step, I am very happy to have been offered a Postdoctoral position in Cancer genomics at Uppsala University, working with Prof. Kerstin Lindblad-Toh and Prof. Karin Forsberg-Nilsson.
Dissertation
Friday March 21, 2025 at 09:00, Eva & Georg Klein venue, Biomedicum floor 3, Solnavägen 9