Carolina Maya Gonzalez
The overall goal of my PhD project is to evaluate the benefits of applying whole genome sequencing for the genetic diagnosis of cancer predisposition syndromes in clinical practice in Sweden
I am a PhD student at the Rare Diseases group at Karolinska Institutet. Previously, I completed an Erasmus+ master of excellence in Innovative Medicine between the University of Groningen in the Netherlands and the University of Uppsala in Sweden. During my studies, I worked with modelling of rare diseases using induced Pluripotent Stem Cells (iPSCs), CRISPR/Cas9 editing and patch-clamp electrophysiology. Currently, I am part of the ChiCaP (Childhood Cancer Predisposition) Project, which aims to evaluate the benefits of implementing germline genetic sequencing in pediatric oncology in Sweden.
We use whole genome sequencing (WGS) for genetic diagnosis of germline variants leading to predisposition to cancer in children. We are also interested in the identification of novel variants leading to cancer predisposition syndromes. For this, we use massively parallel sequencing, bioinformatics and functional analysis of candidate genes.
Fatima A, Schuster J, Akram T, González CM, Sobol M, Hoeber J, Dahl N. Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9. Stem Cell Res. 2020 Apr;44:101739. doi: 10.1016/j.scr.2020.101739. Epub 2020 Feb 20. PMID: 32126327.
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 Mar 11:S0002-9297(21)00057-4. doi: 10.1016/j.ajhg.2021.02.015. Epub ahead of print. PMID: 33711248.