Gene Center Munich
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Bohlen Lab - Research

  • Research Focus

We explore monogenic diseases that affect components of the mRNA translational machinery, including ribosomes, tRNAs, and initiation and elongation factors. These genetic disorders result in diverse phenotypes, such as immunological, hematological, and neurological defects. The molecular mechanisms for most of these conditions are unknown, and current treatments are often lacking.

Objectives

Our research aims to explore translational control in leukocytes from healthy individuals and patients with monogenic inborn errors of translation. We currently have three key objectives:

  1. Translational Regulation in T Cells: Investigating the role of translational regulation in fundamental and specialized T cell functions.
  2. Monogenic Ribosomopathies and Immunodeficiency: Studying how developmental and functional defects in B cells caused by monogenic ribosomopathies contribute to immunodeficiency.
  3. tRNA Metabolism, Biogenesis, and Autoinflammatory Disease: Understanding how monogenic defects in tRNA metabolism and biogenesis drive autoinflammatory diseases in myeloid leukocytes.

Methodology and Collaboration

Our scientific program employs advanced techniques to investigate translational control, paired with experimental immunology using human leukocytes from healthy donors and patients. We are supported by preliminary data and a network of collaborations with clinician scientists for patient recruitment.