It is our great pleasure and honor to announce the formal appointment of Professor Johannes Häberle as an esteemed member of our Scientific Supervisory Board (SSB).
Johannes is a highly accomplished and internationally recognized scientist and clinician on urea cycle disorders (UCDs) and inborn errors of metabolism (IEMs). He is a pediatrician, neonatologist and intensive care specialist, and a senior metabolic consultant at the University Children’s Hospital in Zürich. He is an Assistant Professor for Pediatrics at the University of Zürich and Head of the Metabolic Laboratory at the University Children’s Hospital.
His scientific research employs cutting-edge techniques such as CRISPR base and prime editing, humanized mouse models, and metabolic flux analysis to better understand and treat ureagenesis defects and related conditions. He wrote the suggested guidelines for the diagnosis and management of UCDs, recently updated in 2019. His active contributions to the field led him to be awarded the Archibald Garrod Award in 2019 from the Society for The Study of Inborn Errors of Metabolism (SSIEM).
Johannes is the Chairperson of the European working group for Guidelines for the Diagnosis and Treatment of UCDs and a member of the Executive and Scientific Boards of the European Registry and Network for Intoxication Type Metabolic Diseases (EIMD). He also serves as a Council member of the SSIEM in his role as Chair of the Education and Training Advisory Committee (ETAC) of SSIEM.
With his deep expertise in both basic science and clinical practice, Johannes provides a rare and unique perspective that bridges the molecular basis of UCDs and IEMs with the clinical management of patients to provide a wholistic understanding of these conditions.
We are most grateful to Johannes for joining us and we believe that he will play a vital role on the SSB to help accelerate our goals to better understand and to eventually find a cure for citrin deficiency.
For more information on our Scientific Supervisory Board, please click here.
