Daniel Roman Petersheim is a MD student at LMU Munich. He started training in translational and experimental medicine in late 2014 when he joined Christoph Klein’s group at Dr. von Hauner Children’s Hospital. Driven by a remarkable curiosity, he tries to understand basic principles that govern the pathophysiology of primary immunodeficiencies and hematopoietic disorders. Daniel was given the chance to further strengthen his skills by joining Prof. Raif Geha’s group at Boston Children’s Hospital via the scholarship of the Thematic Network "Research for Rare Diseases and Personalised Medicine". Daniel's research focuses on rare immune disorders of the infant which typically present with increased susceptibility to opportunistic infections and often end lethally. By means of novel technologies, such as Next Generation Sequencing (NGS), clinicians and researchers can learn more about the genetic background of these awful diseases. At the same time, this information about the patients „genetic architecture“ has plentiful of implications regarding the underlying pathophysiology.
In Raif Geha’s lab, Daniel is actively using this NGS pipeline to describe and explore genetic traits associated with rare immunodeficiency disorders. His work will help to understand the basis of these rare conditions which might eventually pave the way for innovative therapeutic approaches.