Carolina Maya Gonzalez

Carolina Maya Gonzalez

Phd Student
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.


  • 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
  • 44:101739. doi: 10.1016/j.scr.2020.101739. Epub 2020 Feb 20. PMID:
    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.


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