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Bjornsson laboratory has had a sustained focus on Kabuki syndrome since it started in 2012. Since then, we have published 11 peer reviewed papers on Kabuki syndrome, spanning from clinical insights (diagnostic criteria, ability to solve tests) to translational discoveries such as potential therapeutic strategies. We currently have two sites of the lab in Europe and the United States: 1) University of Iceland (top left photo) and 2) Johns Hopkins University (top right photo). Here are a few highlights of our work:
The first mouse model of Kabuki syndrome (2014). We characterized the first mouse model of Kabuki syndrome (Kmt2d+/βGeo mice) and demonstrated that these mice have many features seen in patients (growth retardation, skeletal problems, learning problems). This model also revealed novel features such as an ongoing defect of adult neurogenesis (see Bjornsson et al Science TM, 2014) and the lack of Peyers patches in the gut (see Pilarowski et al JACI, 2020).
Proof-of-principle studies that demonstrate that Kabuki syndrome may be a treatable cause of intellectual disability (2014, 2017).
We have shown that hippocampal memory defects and defects of adult neurogenesis improve upon treatment with agent that favor chromatin opening and thereby counter the defect (AR-42, ketogenic diet, BHB injection, see Bjornsson et al. Science TM, 2014; Benjamin J, 2017, PNAS).
Novel insights into the basis of Kabuki syndrome (2019). We have observed precocious differentiation in neurons and mesenchymal cells in mouse models of Kabuki syndrome (See Fahrner and Carosso in JCI Insight, 2019).
DNA methylation as a biomarker in Kabuki syndrome (2017). We recently showed that DNA methylation patterns are abnormal in Kabuki syndrome These changes may have use as a diagnostic biomarker (see Sobreira et al. EJHG, 2017).
> We have co-hosted two Kabuki conferences at Johns Hopkins (2015, 2018) and participated in multiple Kabuki conferences in Texas (2014, 2016, 2019), California (2014), Michigan (2016), Toronto (2018). We are extremely thankful for the support of our work from the community both at Johns Hopkins and the University of Iceland.
> We are actively studying novel causes of Kabuki syndrome (Hadia Hijazi, Baltimore), a novel missense model of Kabuki syndrome (Hilmar, Iceland), role of precocious differentiation in Kabuki syndrome (Sara, Iceland), outcome measures for clinical trials (Jacqui Harris, Baltimore), mechanism of hearing loss in Kabuki syndrome (Teresa Luperchio), a potential biomarker in Kabuki syndrome (Teresa/Leandros), immune disruption in Kabuki syndrome (Li Zhang). If you are interested in supporting our work, please email Dr. Bjoornsson (firstname.lastname@example.org) directly.
We maintain a webpage at: https://notendur.hi.is/htb/ and a Twitter account to keep the community aware of our progress: @BjornssonL.