Recognition for Outstanding Pediatric Endocrinology Research
The award honors an exceptional research track record and the best submitted clinical research manuscript in the field of pediatric endocrinology and diabetology. The €5,000 prize, sponsored by Pfizer Pharma GmbH, was presented on November 14th during the DGPAED annual conference in Leipzig.
Translational Research on Monogenic Obesity
Eric Wenzel was recognized for his translational research on monogenic disorders, pediatric endocrinology, metabolism and obesity. Recently, the working group „Childhood Obesity and Metabolic Research“ led by Prof. Antje Körner identified a completely novel genetic cause leading to severe early onset obesity in children. The group thrives to understand the origin of childhood obesity and its complications by applying a comprehensive approach spanning from clinical, epidemiological, genetic and experimental approaches to finally overcome the treatment gap for these children.
This new monogenic obesity trait is caused by chromosomal rearrangement (shuffling and reordering of parts of DNA, where pieces/genes get duplicated and are aberrantly controlled), which leads to ubiquitous expression of the gene agouti signaling protein (ASIP). This overexpression affects the feeding and energy control centers in the brain and thereby leads to obesity.
Driving Discovery Through Integrated Clinical Research
“While laboratory work provided the functional explanations for this trait using experimental models, the clinical assessment and relevance is of at least equally high relevance”, said Antje Körner. “Eric Wenzel is a dedicated clinician scientist, who has really driven the characterization of this trait; has close interactions with the patients, collaborates on a national and international level, and employs an in depth approach. This will not only help to better understand the human pathophysiology of obesity, but it will also pave the way to new treatment strategies, help for the patients. I am extremely happy for the acknowledgement of his work, our research over long years, and also that with this visibility we can overcome misconceptions about the causes of obesity.”
Applying a comprehensive approach – integrating clinical phenotyping, metabolic assessments and mechanistic studies – Eric Wenzel and his colleagues extensively investigate this emerging obesity syndrome. The authors did a large screening across multiple cohorts for the ASIP mutation and Eric Wenzel performed subsequently in-depth clinical characterizations.
New Insights and Clinical Implications
“We demonstrate with our large cohort screening that ASIP mutations represent a more frequent cause of severe childhood obesity than previously recognized. As this chromosomal rearrangement evades standard genetic screening panels, our findings emphasize the need for specialized detection methods in clinical practice. Moreover, based on our findings we initiated first targeted therapeutic interventions and strategies for affected patients which will be continued in the excellence cluster LeiCeM.” explains the early-career pediatrician-scientist. These findings establish the ubiquitous ectopic ASIP overexpression as a novel cause of monogenic obesity and provide pathophysiological insights into disrupted energy balance due to altered energy expenditure.
Funding information
Eric Wenzel is part of the MD-LEICS scientist program, which enables early-career researchers to develop their own research projects in parallel with clinical training. His work is embedded within the research environment of the Medical Faculty and University Medical Hospital Center Leipzig, with a focus on metabolic and obesity research.
In Leipzig, well-characterized patient cohorts, such as the Leipzig Childhood Obesity Cohorts and the LIFE Child cohort, provide the basis for these investigations. The Clinical Trial Unit of the Helmholtz Institute of Metabolism, Obesity, and Vascular Research (HI-MAG) of Helmholtz Munich and the Medical Faculty of the University of Leipzig supports the comprehensive clinical characterization of patients.
This research is also part of the obesity research within the German Center for Child and Adolescent Health Research (DZKJ). It is supported by the German Research Foundation (CRC1052, MD-LEICS), the Federal Ministry of Research, Technology and Space (DZKJ), HI-MAG and EASO Novo Nordisk Foundation.
