Manfred Boehm, M.D.
Manfred Boehm received his M.D. in 1993 from the University of Heidelberg, Germany and did his residency in internal medicine at the Franz-Volhard-Clinic in Berlin. Before arriving at the NHLBI, he was a research fellow at the Max Delbrück Center for Molecular Medicine, Berlin from 1996 to 1997, and the University of Michigan, Ann Arbor from 1997 to 1999. He joined the NHLBI as a research fellow in 1999 and has been an Investigator since 2003. Dr. Boehm received a Foundation for Advanced Education in the Sciences Award for Research Excellence from the NIH. Dr. Boehm has authored numerous original scientific articles, reviews, and book chapters. He serves on the editorial boards of Trends in Cardiovascular Medicine, ISRN Stem Cells, Atherosclerosis, and Journal of Molecular Medicine. Dr. Boehm holds two patents, has participated in cooperative research and development agreements with biotechnology companies and has several active clinical protocols.
- Manfred Boehm, M.D.
The Boehm Lab’s research interests are to identify and better understand the molecular mechanisms underlying human vascular diseases and to develop new therapeutic approaches.
Studies of patients with rare monogenetic vascular diseases are pivotal for understanding human vascular pathophysiology and have significant implications for comprehending more common complex, polygenetic vascular diseases. The diverse human research programs at the NIH provide a unique opportunity to study patients having monogenetic diseases with vascular implications.
The Boehm lab established the Patient-Centered Vascular Translational Program to conduct research on clinically relevant questions focused on vascular injury, remodeling, and repair, and to translate research findings into developing new therapeutic strategies.
The aims of the Vascular Translational Program align with the principles of Precision Medicine, investigating how individual variations in genes, environment, and lifestyle contribute to vascular disease. This program was designed to link high-throughput sequencing data with molecular disease mechanisms to facilitate the development of targeted therapies for patients with vascular disorders. New clinical protocols developed for this program include comprehensive clinical evaluations, collection of human biospecimens for diagnostic and research purposes, and a first-in-humans treatment study. We also successfully established a patient-specific disease-modeling platform using human induced pluripotent stem cells (hiPSCs) and hiPSCs-derived vascular and inflammatory cell lineages, including endothelial cells (iECs), vascular smooth muscle cells (iVSMCs), mesenchymal stromal cells (iMSCs), hematopoietic stem cells (iHSCs), and myeloid lineage cells (iMLCs). These cells are used for screening approaches, including high throughput sequencing, loss- and gain-of-function studies, and in vitro and in vivo disease modeling to identify disease-causing genetic variants and associated signaling pathways. Patient-specific hiPSCs and their derivatives will be used to test drugs or small molecules for development of new therapeutic strategies.
The Boehm Lab has successfully identified and/or is currently working on the mechanism underlying rare monogenetic diseases with vascular implications, including Arterial Calcification due to Deficiency of CD73 (ACDC), Systemic inflammation and early-onset recurrent stroke in children due to Deficiency of Adenosine Deaminase 2 (DADA2), STING-associated vasculopathy with onset in infancy (SAVI), and Hyper IgE syndrome (AD-HIES), a primary immunodeficiency caused by loss-of-function mutations in Signal Transducer and Activator of Transcription 3 (STAT3). Research findings from these human rare monogenetic vascular diseases have lead to novel treatment strategies for affected patients.
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