Giedré Grigelioniené

Giedré Grigelioniené

Adjunct Professor | Docent
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Klinisk genetik Medfödda skelettsjukdomar, 171 77 Stockholm
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About me

  • I am an Adjunct Professor of Clinical Genetics at Karolinska Institutet and a Senior Consultant at the Department of Clinical Genetics and Genomics, Karolinska University Hospital. I lead the Genetic Skeletal Disorders Research Team within the Clinical Genetics Group at the Department of Molecular Medicine and Surgery.

    As a pediatrician and clinical geneticist, I am dedicated to advancing precision medicine for children with congenital disorders. My work focuses on achieving accurate molecular diagnoses, uncovering the underlying causes of rare genetic conditions, and translating these discoveries into evidence-based clinical management, follow-up, and therapeutic strategies. Through the integration of clinical expertise and genomic research, I strive to improve outcomes for affected children and their families.

    My research focuses on identifying genetic causes and molecular mechanisms underlying congenital skeletal disorders, with particular interest in non-coding genomic regions and regulatory mechanisms in rare diseases. By combining detailed clinical phenotyping with advanced genomic technologies, my work has contributed to the discovery of novel disease mechanisms and improved diagnostics for rare skeletal disorders.

    I have more than 20 years of experience in pediatric and clinical genetics, with expertise in skeletal dysplasias and syndromes with skeletal malformations. My research is supported by competitive national funding, including the Swedish Research Council, and is carried out in collaboration with international research networks in rare genetic diseases.

    In addition to research and clinical work, I mentor PhD students and early-career researchers, serve as a peer reviewer for international journals, and sit on the editorial board of the Journal of Human Genetics. 

Research

  • My research focuses on discovering the genetic and molecular causes of rare congenital skeletal disorders and translating these findings into improved diagnostics and patient care. I am particularly interested in identifying disease-causing variants in non-coding regions of the genome, understanding novel disease mechanisms, and developing precision medicine approaches for children and adults with rare genetic conditions. My goal is to bridge genetic discovery with evidence-based diagnosis, follow-up, and future treatment strategies.

Articles

All other publications

Grants

  • Congenital Skeletal Disorders: Clinical Characterization and Identification of Underlying Molecular Mechanisms
    Stiftelsen Frimurare Barnhuset i Stockholm
    1 September 2024 - 31 August 2025
  • Swedish Research Council
    1 January 2024 - 31 December 2026
    This proposal describes an alternative to traditional procedures for creating knockout mouse strains, developed by Prof. M. Ohtsuka (Tokai University, Japan) in 2018 and thereafter established at Harvard Medical School by Prof. T. Kobayashi, who recently visited our laboratory to help us set up the technology required. Referred to as i-Gonad, this approach is based on genetic manipulations of DNA in a single cell mouse embryos directly in the womb.This methodology reduces the numbers of mice required to create novel mutant strains by more than 80%. Furthermore, this reduction can be even greater when targeting several genes. For instance, when creating triple knockouts from heterozygous parents with traditional procedures, only 1 in 64 of the offspring is triple homozygous, meaning that 63 mice are sacrificed as by-products of the breeding scheme. Here we will check if these by-products can be dramatically reduced by i-Gonads. It theoretically allows introducing novel genetic modifications directly into established mutant strains. This should dramatically reduce the number of mice utilized for expansion breeding (starting from 25 folds).The ability to introduce mutations associated with specific human diseases, along with the capacity to manipulate several genes at once and do it on genetically altered background, will not only reduce the number of mice required for numerous experiments, but also make novel types of experiments possible with no loss in scientific rigor.
  • Swedish Research Council
    1 January 2023 - 31 December 2025
  • Swedish Research Council
    1 January 2019 - 31 December 2021

Employments

  • Adjunct Professor, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2026-2030

Degrees and Education

  • Docent, Karolinska Institutet, 2017
  • Doctor Of Philosophy, Department of Women's and Children's Health, Karolinska Institutet, 2001
  • Licentiate Degree, Department of Women's and Children's Health, Karolinska Institutet, 1999

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