Head

Prof. Dr. med. Martin Wabitsch
Head of the Division of Padiatric Endocrinology and Diabetes

Ulm University Medical Center
Department of Pediatrics and Adolescent Medicine
Eythstr. 24
89075 Ulm, Germany

phone: +49-731-500 57401
e-mail: martin.wabitsch@uniklinik-ulm.de
Website of the Division

Research Profile

Our research areas include development and disturbances of the endocrine system, endocrine regulation of body weight and diabetes mellitus type 1 and type 2. The main focus of the research projects lays on diseases going along with alterations in adipose tissue mass and function such as obesity and lipodystrophies and their comorbidities. On the one hand (see Experimental Endocrinology and Metabolism Research) we aim to identify the underlying pathophysiology at the genetic, molecular, cellular, organ and systemic level. On the other hand, we are involved in clinical studies evaluating novel treatment options.

Our objectives include not only the further development of a pure science of endocrinology, but also the evolution of an applied science of endocrinology and the improvement of the medical art in endocrine domains. We believe that the promise of basic science is that tomorrow’s patients will be treated better than today’s.

Monogenic forms of early onset obesity are very rare. Severe early-onset obesity is often caused by genetic defects. Most of these genes are involved in the central nervous regulation of hunger and satiety. Herein, the leptin-melanocortin system plays a pivotal role. Patients with congential leptin deficiency can be treated with a hormone replacement therapy with metreleptin, a recombinant analogue of the human leptin. Leptin is a highly important hormone stimulating the MC4 pathway with pleiotropic functions mostly elicited via specific leptin receptors. Apart from regulating satiety, some of the most important aspects of leptin function include its influence on energy homeostasis, on glucose homeostasis, on the sympathetic nervous system and on immune function. Our department is one of a few centers worldwide offering leptin replacement therapy to patients. Furthermore, we have identified and treated the first known patients with severe early onset obesity due to a mutation in the leptin gene that renders the hormone biologically inactive (Wabitsch et al., New Engl J Med 2015). Our laboratory investigates the biological functions of leptin and aims to better understand the clinical picture of congenital leptin deficiency. Recently, the MC4R agonist Setmelanotide has been introduced as a new treatment option for patients with POMC and LPR deficiency.

In recent years we have developed model systems to study human adipocyte biology. We have established a cell line derived from an adipose tissue specimen of a patient with Simpson-Golabi-Behmel syndrome (SGBS). The cells are close to primary human adipocytes as they are neither transformed nor immortalized. SGBS adipocytes exhibit the typical characteristics of human white fat cells, including synthesis and storage of triglycerides and insulin sensitivity, as well as sensitivity to beta-adrenergic agents. Therefore, the cells represent a unique and versatile research tool for examining human adipose tissue biology. We share SGBS cells for scientific purposes. So far, the cells have been spread to more the 250 international research labs.