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PRESENTED IN ENGLISH

Biomedical and Health Sciences Conference at the University of Iceland

Genetics

Presenters:

Time, type of presentation:

Session Chair: Erna Magnúsdóttir


10:40-10:55: Molecular Genetics of Inherited Retinal Degenerations in Icelandic patients
10:55-11:10: Pilarowski-Björnsson Syndrome is a sexually dimorphic trait
11:10-11:25: Hypoxia normalizes precocious differentiation in a Kabuki syndrome chondrocyte model
11:25-11:40: GWAS on band neutrophil fraction and identification of a Pelger-Huët family

Abstracts in session A-Z

GWAS on band neutrophil fraction and identification of a Pelger-Huët family

Guðjón Óskarsson. Pelger-Huët anomaly (PHA) is a benign disorder characterised by a hypolobulated granulocyte nucleus. PHA is caused by mutations in LBR. A 6-generation PHA pedigree in Iceland has been described. The focus of the study was to find variants affecting granulocyte nuclear morphology and to identify the PHA family.

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Hypoxia normalizes precocious differentiation in a Kabuki syndrome chondrocyte model

Main author: Sara Þöll Halldórsdóttir. Kabuki syndrome chondrocyte model exhibits precocious differentiation when grown in normal oxygen concentration accompanied by abnormal gene expression. However, differentiation rate is normalized when induced in hypoxic environment.

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Molecular Genetics of Inherited Retinal Degenerations in Icelandic patients

Jón Jóhannes Jónsson. Rannsókn á erfðaorsökum arfgengra hrörnunarsjúkdóma í augnbotnum hjá íslenskum sjúklingum, Alls voru 140 sjúklingar greindir með þessa sjúkdóma þar af höfðu 70 farið í erfðarannsókn. Erfðabrigði hjá íslenskum sjúklingum reyndist ólík erfðabrigðum sem valda þessum sjúkdómum hjá nágrannaþjóðunum.

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Pilarowski-Björnsson Syndrome is a sexually dimorphic trait

Main author: Kimberley Anderson. Here, we present a novel mouse model for the neurodevelopmental disorder, Pilarowski-Björnsson syndrome (PBS). We have observed striking sexually dimorphic phenotypes in these mice, and will use our findings to improve mechanistic understanding of the disorder.

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