PHYM News

Congratulations Monica Didier Bulla for her brilliant thesis defense!

This past Tuesday April 17th 2018, Monica Bulla-Didier successfully defended her Ph.D. thesis entitled “Biophysical properties of the ORAI1 channel in the context of tubular aggregate myopathy”. Her doctorate was awarded with High Distinction and she received the highest possible grade (6.0) for the MD.-Ph.D. programme.

Monica began her studies, centred on the calcium channel Orai1, in the in the laboratory of Prof. Nicolas Demaurex after finishing her medical degree in November 2013. Monica’s work focused on the detailed characterization of 3 novel activating mutations in Orai1, G98S, V107M and T184M, that were all associated to a genetic muscular disease called tubular aggregate myopathy (TAM). In her publication in the journal Human Mutation, performed in collaboration with the group of Prof. Jocelyn Laporte (University of Strasbourg), Monica showed that Orai1-mediated calcium entry was augmented in all 3 cases, but each to a different degree. The increased activity correlated with the severity of the disease, which up to now seemed otherwise identical according to the currently available diagnostic tools. In a follow-up study, currently under revision, Monica further characterized the properties of these mutated channels, analysing whether regulation by physiological stress factors such as pH changes and the presence of oxidants are altered by the mutations. Importantly, she also examined whether the mutated channels could still be blocked by the Orai1 inhibitor GSK7975, a drug currently undergoing clinical trials and which could potentially serve as a therapeutic for treating TAM. Since the deregulation of Orai1 has been implicated in immune diseases and cancer there is a large interest in understanding how this channel operates under normal conditions and under stress or disease, and Monica’s work provides new insights into this important channel and its associated diseases. 

 In addition to her work on the TAM mutations, Monica also contributed to a second study, published in the Journal of Cell Science examining a new isoform of the Orai1 regulator STIM1 called STIM1L, which is highly expressed in muscle. Monica was also awarded the prestigious Swiss National Science Foundation MD-PhD programme grant, and was the winner of several prizes, including the Best Presentation at the PHYM Student Retreat in 2015 and the 2016 Young Investigator Prize from the Swiss Physiological Society. Monica has also undertaken several teaching activities in the past year and plans to continue to pursue a career in biomedical education.

Wishing Monica and her lucky students all the best for the future!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Posted by: P. Nunes-Hasler

April 26, 2018
  PHYM News