Date: Wednesday 15 February 2023
Welcome and introduction - Dr Senthil Senniappan (Liverpool, UK)- ESPE Connect Webinar Convenor
Genetic findings and understanding of pathophysiology in human lipodystrophy syndromes - Professor Martin Wabitsch (Ulm, Germany)
Comorbidties and metabolic disturbances in children and adolescents with lipodystrophy syndromes - Dr Rebecca Brown (Bethesda, Maryland, USA)
Pharmacological treatment and care for young patients with lipodystrophy syndromes - Dr Julia von Schnurbein (Ulm, Germany)
Webinar Close - Dr Senthil Senniappan
Professor Sadaf Farooqi FMedSci FRS
Sadaf Farooqi is a Clinician Scientist distinguished for her discoveries of the fundamental mechanisms that control human weight regulation and their disruption in obesity. She found that the hormone leptin and its target the melanocortin 4 receptor (MC4R) regulate the drive to eat and the preference for rewarding and high fat food, revealing the biological basis of innate behaviours previously thought to be under voluntary control.
By precisely connecting molecular mechanisms to clinical phenotypes, her research explained how changes in weight affect blood pressure by altering leptin-melanocortin signalling, thereby explaining the association between obesity and hypertension.
Her identification and characterisation of multiple obesity syndromes has led to genetic testing being adopted worldwide, transforming the lives of families suspected of causing severe obesity in children through neglect. Her research has directly enabled life-saving treatment for some people with severe obesity, therapies that are now licensed and widely available. Her research into MC4R mutations that protect against obesity and into the genetic basis of thinness has opened up possibilities for the design of new weight loss treatments.
Prof Dr Erica LT van den Akker
Prof Dr Erica LT van den Akker is pediatric endocrinologist. She is head of the division of Pediatric Endocrinology at the department of Pediatrics Erasmus University Medical Center Sophia Children’s Hospital and lecturer at the Faculty of Medicine, Erasmus University, Rotterdam, The Netherlands. She is co-founder of Obesity Clinic CGG, which is an EASO Center of Management for diagnosis and treatment of children and adults with obesity. The center is national referral center for genetic obesity. Van den Akker is member of the clinical practice committee of the European Society of Pediatric Endocrinology , member of the steering group Growth and Obesity of the European Reference Network EndoERN.
Professor Martin Wabitsch (Ulm, Germany)
Martin Wabitsch MD, PhD is Professor of Paediatrics at the University of Ulm, Germany and Head of the Division of Paediatric Endocrinology and Diabetes. His research focus comprises childhood and genetic obesity, the biology of the human adipocyte as well as rare lipodystrophy syndromes. Dr Wabitsch has been a former President of the German Society for Paediatric Endocrinology and Diabetes as well as of the German Obesity Society. Currently he is the Chairman of the Center for Rare Endocrine Disorders, Ulm University Medical Center and Vice President European Consortium of Lipodystrophies (ECLip).