Genetic and epigenetic studies of pediatric leukemia

Unit profile


Bertil Johansson is Research Group Leader for this research group


Our aim is to increase our understanding of the leukemogenic process and to investigate the clinical impact of genetic/epigenetic abnormalities in pediatric acute lymphoblastic and myeloid leukemia (ALL and AML), focusing on: 1) Next generation sequencing (NGS) analyses of paired diagnostic and relapse samples to delineate the mutational road to relapse; 2) NGS analyses of isodisomies in ALL/AML to ascertain pathogenetically important gene mutations/imprinting abnormalities; 3) Genetic analyses of Down syndrome-related AML and ALL to identify clinically relevant changes, and 4) Genomic characterization of B-lineage ALL lacking characteristic genetic changes (“B-other”) to discover and characterize genetic aberrations that can be used to subclassify this heterogeneous group. Thus, our goals are to delineate novel subgroups, identify biomarkers of use for risk stratification and targeted therapy, and, ultimately, to improve the survival of children and adolescents with ALL and AML.

UKÄ subject classification

  • Clinical Medicine

Free keywords

  • Pediatric leukemia
  • genetics
  • epigenetisk
  • pathogenesis
  • prognosis

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. Our work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Collaborations and top research areas from the last five years

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