BJÖRNSSON LABORATORY NEWS

January 2020: Welcome Tinna to Björnsson team!

October 2020: Hans, Jill and Leandros speak at virtual ASHG.

October 2020: Björnsson lab represented at ASHG TV for ASHG  meeting:

                      https://www.youtube.com/watch?v=AVK-tWIhXBk

October 2020: Welcome Arnar to Bjornsson team!

October 2020: Björnsson team presents 4 posters at Visindi ad hausti (Landspitali).

September 2020: Leandros publishes method to predict loss of function intolerance in small genes using CpG content of promoter.

July 2020: Hans, Hadia and Sara participate in 61st McKusick-Short Course (1st fullly virtual course).

July 2020: Bjornsson team participates in publishing first Caregiver Survey on Kabuki syndrome.

July 2020: Welcome Hadia to Bjornsson team!

June 2020: Welcome Kimberley and Hilmar to Bjornsson team! We thank Sara for her hard work as lab manager in Iceland but  she will be changing roles to graduate student in the fall.

June 2020: Bjornsson lab receives a grant from the Icelandic Cancer Society:

https://www.krabb.is/visindasjodur/rannsoknir-sem-sjodurinn-styrkir/mild-kaeling-gaeti-breytt-svorun-vid-lyfjamedferd

May 2020: Bjornsson team gets grant from Icelandic Technology Development fund to study mechanisms on how cells and mammals respond to low environmental temperature.

May 2020: Hans speaks at NYU pediatric neurology grand rounds (virtual).

April 2020:  Leandros defends thesis. Congrats Dr. Boukas!

April 2020: Björnsson lab receives grant from Wiedemann-Steiner foundation to develop a novel mouse model for WSS.

March 2020: Björnsson lab describes immune dysfunction in mouse model of Kabuki syndrome, including a deficiency of the  Peyer´s patches. This is a novel KS phenotype which may offer novel mechanistic insights into KS.

March 2020: Welcome Erla to Bjornsson team!

February 2020: Dr. Björnsson lectures at rare disease (Einstok Born) day conference in Iceland

February 2020: Teresa publishes description of first Kabuki syndrome patient with a full non-mosaic deletion.

January 2020: Björnsson lab receives a 3 year grant from Icelandic Research Fund to study precocious differentiation in Kabuki syndrome cells.

January 2020: Dr. Björnsson elected to Society of Pediatric Research!

November 2019: A a new review on Mendelian disorders of the epigenetic machinery in Hum. Mol. Genetics!

November 2019: Giovanni defends thesis. Congrats Dr. Carosso!

October 2019: Björnsson team (Teresa, Leandros, Hans) present posters at American Society of Human Genetics and Society of Craniofacial Research.

October 2019: Dr. Björnsson participates in Wiedeman-Steiner Conference in Texas.

October 2019: Dr. Björnsson participates in Texas Kabuki Gathering.

October 2019: Salvör accepted into PhD program and received a grant from Göngum Saman Fund.

September 2019: Björnsson laboratory published two manuscripts in JCI Insight, which suggest that precocious differentiation may be a unifying feature in multiple cell types in Kabuki syndrome.

September 2019: Dr. Björnsson promoted to full professor at the University of Iceland.

July 2019: Dr. Björnsson and Ellen participate in 60th McKusick Short Course, where Hans speaks on epigenetics and epigenetic machinery. 

May 2019: Björnsson lab receives a grant from Oddur Ólafsson Fund.

May 2019: Welcome Ellen to Björnsson team!

 

March 2019: Genay Pilarowski defends thesis. Congrats Dr. Pilarowski!

March 2019: Björnsson team publishes study that shows that haploinsufficient chromatin genes demonstrate co-expression in GTEX dataset. This offers a new strategy to evaluate chromatin disease candidates but also raises the possibility that co-expression plays a role in the disease phenotype.  We also have created a website for researchers interested in epigenetic machinery: http://www.epigeneticmachinery.org/

 

February 2019: Björnsson team publishes study on visuospatial function in Kabuki syndrome in JIDR, we think that this may act as an outcome measures in therapeutic trials.

 

January 2019: Björnsson lab receives a 3 year grant from Icelandic Research Fund to study causes of neurological dysfunction in Kabuki syndrome. Hans Björnsson promoted to Associate Professor at Johns Hopkins University.

 

December 2018: Genay presents at Infrafrontier meeting in Munich.

 

November 2018: Welcome Sara Þöll to Björnsson team!

 

October 2018: Giovanni presents poster at TEDCO’s Entrepreneur expo and stem cell symposium.

 

October 2018: Björnsson laboratory receives grant from Heilavernd Foundation in Iceland to study rat model for the study of hereditary cystatin C amyloid angiopathy.

 

October 2018: Björnsson team (Genay , Leandros, Jill) presents 3 posters at American Society of Human Genetics on Kabuki syndrome and related disorders (Kabuki syndrome, Pilarowski-Bjornsson syndrome and Mendelian disorders of epigenetic machinery) and Dr. Björnsson participates in career paths in genetics to introduce young ASHG members to clinical genetics.

 

September 2018: Dr. Björnsson presents and participates at a Smith Magenis syndrome conference in Iceland.

 

July 2018: Björnsson laboratory granted rat model for the study of hereditary cystatin C amyloid angiopathy from InfraFrontier2020.

 

July 2018: Dr. Björnsson participates in 59th McKusick Short Course at Jackson laboratories where he talks about epigenetics and DNA methylation and histone machineries.

 

June 2018: Dr. Björnsson and his team speak and participate in a Kabuki conference held at Johns Hopkins University/Kennedy Krieger institute (host: Jacqui Harris MD) and received donation from Kabuki families (see Figure on right).

 

June 2018: Björnsson group describes a patient diagnosed with transaldolase deficiency by exome sequencing and treated with n-acetylcysteine (2nd patient in the world) published in JIMD reports.

 

April 2018: Dr. Björnsson presents at Grand Rounds in Sick Kids in Toronto and participates in a gathering of patients with Kabuki and Wiedemann-Steiner syndromes.

 

March 2018: Dr. Björnsson gives graduate student sponsored presentation at Emory University.

 

December 2017: Björnsson team publishes data that suggests that DNA methylation may be a possible diagnostic biomarker of the Kabuki syndrome phenotype.

 

 

   

 

Bjornsson lab received a wonderful donation from Mrs. Denton at JHU Kabuki conference.

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