Carolina Maya Gonzalez
Phd Student
E-mail: carolina.maya.gonzalez@ki.se
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
About me
- 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.
Research
- 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.
*Publications*
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.
Articles
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2021;108(4):739-748
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Article: STEM CELL RESEARCH. 2020;44:101739