Congratulations to Laura PÉREZ i GUARDIA on the acceptance of her thesis!
Her work, supervised by Johann BÖHM
is entitled “Physiopathology and therapeutic approaches for tubular aggregate myopathy (TAM) and Stormorken (STRMK) syndrome".
Summary of her research work:
My PhD research focused on advancing the understanding and treatment of tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK).I generated and characterized a new mouse model carrying an Orai1 mutation to elucidate disease mechanisms.
In parallel, I established proof-of-concepts and designed gene therapy–based approaches that show promising potential for future treatment. Finally, I investigated how reducing STIM1 levels influences muscle physiology during ageing.
Together, these studies provide new insights into TAM/STRMK pathophysiology and open multiple avenues for targeted therapeutic interventions.
Skills acquired at the IGBMC:
During these years, I have learned many skills, both scientific and personal. The two I value the most are resilience and discipline.
Completing a PhD is a long and sometimes challenging journey, and there are moments when motivation naturally fluctuates. It is essential to keep the final goal in sight and remember that with dedication, hard work, and perseverance, we can achieve far more than we initially imagine.
Life at the IGBMC:
What I particularly appreciate about the IGBMC is its strong collaborative spirit. The institute hosts numerous technological platforms with highly skilled professionals who are always willing to help. This environment greatly facilitates efficient work, fosters scientific exchange, and ensures high-quality research.
Collaborations :
I collaborated with renowned research teams and clinicians in Toulouse, Strasbourg, and other partners involved in the study of congenital myopathies. These interactions were essential for advancing the project and validating key findings.
Funding and partners:
My PhD was funded by the Association Française contre les Myopathies (AFM-Téléthon).
Future projects:
Now that my journey at the IGBMC has come to an end, I intend to continue pursuing a career in research, whether in the public or private sector. My goal is to contribute to scientific progress, help others through meaningful research, and make a positive impact on society.