Project background: Project/aims/to do's: Starting point of your PhD project is a group of patients suffering from ultra-rare inborn errors of metabolism (IEM) which cause a disruption of central energy-conserving pathways such as the tricarboxylic acid (TCA) cycle and the malate aspartate shuttle (MAS). Malate dehydrogenase 2 (MDH2) deficiency is an IEM affecting both - the TCA cycle and the MAS. We recently published several articles on a young girl suffering from an MDH2 deficiency who was the fourth patient described in literature and the first patient to receive triheptanoin - a novel dietary therapy (Refs.: PMID 38425868 and PMID 34712577). Triheptanoin consists of three molecules of C7 fatty acids linked to a glycerol backbone. C7 is used as an energy substrate in the beta-oxidation of mitochondria. Our patient clinically benefited from this therapy. We currently aim to objectify this therapeutic approach by investigating and comparing different dietary strategies in a liver disease model using patient-derived human induced pluripotent stem cell (hiPSC)-derived hepatocytes (hiPSC-Heps). Recently we established and characterized the first hiPSC-Hep-based liver disease model recapitulating MDH2 deficiency (PMID 38425868). Now, the plan for your PhD project is to intensify and expand above studies and to learn more about different pathways involved and to test different potentially more sophisticated therapeutic approaches for MDH2 deficiency and other TCA cycle and MAS defects. Overall goal: To accomplish a PhD within a familiar environment and great team atmosphere. You will encounter a spirit of humanity and enthusiasm to solve patient-oriented research questions! You shall gain professional and lab experience during your PhD, you will have lots of fun within and besides the lab, you will be doing very hard work, you will be thrilled and enthusiastic and you will build up your own career path which shall continue after completion of your PhD!

What you can expect

What we offer and what you can expect: You will be working in an academic environment within different departments at University Hospital Bern Inselspital (Pediatrics and Institute of Clinical Chemistry) allowing you to gain insight into various other affiliated research groups. You will be mainly working with cell culture and in the wet lab. No animal work. You will learn many different methods and techniques relevant in molecular biology including multiomics approaches. You will be participating at national and international meetings. This project is funded by the "Palatin Foundation".

Your Profile

Your profile and what I do expect: You hold a master degree in biochemistry, molecular biology or a related field and you have experience in cell culture and data analysis. You have excellent communication skills in English (written and verbal). You are a highly motivated and enthusiastic student thriving to accomplish things. You are independent and yet a team player. You are well organized and self-motivated. You have a specific interest in patient-oriented research. You are willing to make the difference. You are looking forward to working hard and having fun!

What we offer

see above

Questions about the job?

For further information please contact PD Dr. med. Alexander Laemmle, MD, PhD physician-scientist

Write an email

+41 31 632 95 44