PhD Student at CeMM, Boztug Lab: 2010 – present

Elisabeth Salzer

My decision to do a PhD after finishing medical studies was mainly based on the fact that as a medical doctor you are often confronted with facts about disease entities, causalities or treatments you have to study, internalize and apply but you are not really supposed to challenge them. Therefore I decided to do a PhD in molecular biology before starting my medical specialization to broaden my scientific horizon and to get a profound education in science. It was important for me to work in an institute, which is tightly interconnected with clinicians and focused on clinically applicable research but at the same time also known for cutting-edge technologies and great expertise in a broad scope of scientific genres. Therefore, I decided to apply for the CeMM PhD Program.

Now, after four years at CeMM I can say it is indeed a truly unique place in many ways. The atmosphere is international and very open-minded also towards non-biological topics such as music, arts and humanities. However, one of the pillars of this institute is its cooperative and collaborative spirit, which is reflected by numerous social events throughout the year. During the first year, lab rotations in two or three different labs enable you to gain specific insides into various techniques and to get to know people from other labs who might be helpful later on when you need expertise to complete your project.

Over the past four years in collaboration with many groups at CeMM and abroad, our lab has gained a strong expertise not only in exome sequencing and SNP array based homozygosity mapping but also in the functional workup and validation of identified gene-defects. During my PhD I have gained expertise in various techniques from Affymetrix arrays and NGS based sequencing approaches, including data analysis to the identification novel diseases causing genes. We have also gained expertise in functional validation of identified defects using among other techniques affinity purification and mass spectrometry based approaches. Moreover, I have been able to work on an in vivo mouse model for a novel primary immunodeficiency gene. As my supervisor Kaan Boztug has an MD background just like myself, I particularly enjoy our fruitful discussions on potential clinical implications of our findings. Taken together, I would not want to miss the last four years both from a professional and a personal perspective.

Key publications

  • Salzer E, Kansu A, Sic H, Májek P, Ikincioğullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF5, Bilic I, Ban SA, Kuloğlu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K: Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol, 2014, 133(6):1651-9.

  • Salzer E, Santos-Valente E, Klaver S, Ban SA, Emminger W, Prengemann NK, Garncarz W, Müllauer L, Kain R, Boztug H, Heitger A, Arbeiter K, Eitelberger F, Seidel MG, Holter W, Pollak A, Pickl WF, Förster-Waldl E, Boztug K: B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. Blood, 2013, 121(16):3112-6.

  • Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Förster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG: Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica, 2013, 98(3):473-8.