Research Departments Physiology 20200227 Employees Personal Touch Heidi Schiht
27 February 2020

Could you tell us something about your work at the department?
Under the supervision of Jeroen de Baaij and working together with Barnabas Ilenwabor, my project focuses on the protein FAM111A. Patients with Kenny-Caffey Syndrome Type 2 (KCS2) have hypoparathyroidism with hypocalcemia and often hypomagnesemia and hyperphosphatemia. These patients have short stature, medullary stenosis and cortical thickening of the long tubular bones, a typical facial appearance, and often an open anterior fontanelle as well as ocular and dental problems. Patients were found to have mutations in the FAM111A gene, causing a mutation hotspot at position R569 of the protein. However, very little is known about this protein. It has been described as an antiviral protein, it was found to play a role in DNA replication, and it contains a serine peptidase domain, although it is not known whether it can actually cleave proteins. The question is then what role FAM111A plays in the cells and how mutations can cause the observed phenotype.
 
Could you describe yourself in a few words:
I suppose I am honest, a little quiet around new folks, very eager to learn, and apparently not so good at describing myself in a few words, as this one sentence took me a solid 5 minutes to write.

What do you normally do in the weekends?
Since 2018 I’ve been trying to learn all about scientific illustration. Now, I am providing illustrations and the design for the RAMS magazine from the medicine department of the Radboud and I take 3D illustration courses. Apart from that I like to meet up with my brothers and play board games, or I visit friends. I also watch Netflix series and go for walks with my mom. I may or may not play some Zoo/Rollercoaster Tycoon or Age of Empires for nostalgia.
 
What are your hobbies and can you tell us something about your favorite one?
I enjoy drawing, reading, cooking, playing the keyboard, going to concerts and festivals (my favorite music genres are metal and post-rock), traveling, learning new languages, taking walks, riding a bike and playing board games.
 
Could you describe your best holiday?
My best holiday was probably when I went to Argentina for the first time in 2017. It was my first time leaving the continent, and it was scary traveling alone especially since I didn’t speak Spanish as well as I do now. I fell in love with Argentinian culture, the people and the landscape. Highlights were the mountains Uritorco and la Quebrada del Condorito, and a short hostel stay in Buenos Aires.
 
What is your dream for the future?
I don’t tend to focus on the future too much. I am preparing myself to make a career in scientific illustration possible, but I am not sure if that is the road I’ll eventually take. For now I am just looking forward to having my own place where I don’t have to share the bathroom and kitchen. Yes, that would be nice.
 
Please add a picture of yourself during a certain activity and add here a note explaning the photo:
This picture was taken shortly after finding out I obtained a PhD position here! It is in Parque Nacional los Cardones, Salta, Argentina. The flowers smelled amazing.

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