Congratulations Dr Desiree Haaften-Visser: PhD Survivor !

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Congratulations to Dr. Desiree Haaften-Visser who has successfully defended her PhD thesis entitled: Identification and characterisation of genes associated with congenital intestinal disease. 

A proper function of the intestine is essential for normal growth and function of the human body. Disturbance of this function can lead to severe illness, both due to local disease and malnutrition. Treatment can be challenging, since current therapies are often unable to offer a cure, but at best ameliorate symptoms. To improve the  therapy of diseases of the gastrointestinal tract a better understanding of the pathogenesis of these disorders is essential. During her PhD research, Desiree has focussed on understanding the pathogenesis of a few rare hereditary intestinal diseases through the use of molecular genetic methods, including next-generation sequencing, followed by in vitro functional assays. This approach of ‘functional genomics’ has the ultimate goal to improve the therapy of these diseases.

Here, for the first time, association of mutations in ANKZF1 with infantile-onset IBD has been described. ANKZF1 is an essential protein in the mitochondrial response to cellular stress and ANKZF1 deficiency leads to mitochondrial dysfunction. In a second study, mutations in STX3 leading to disturbed enterocyte polarity, were found to be a novel cause of microvillus inclusion disease. Additionally, a novel mutation in DGAT1 was found as a cause of severe congenital fat intolerance. Finally, a novel whole-exome sequencing (WES) diagnostic approach was developed for congenital intestinal diseases.

Taken together, this work contributes to the unravelling of the pathogenesis of rare congenital intestinal diseases, which is crucial to develop novel treatment options for these patients. This work was a collaboration between the Coffer Lab, Prof. Roderick Houwen and Dr. Sabine Middendorp at the Regenerative Medicine Center and Wilhelmina Children's Hospital, University Medical Center Utrecht.