PU-PH | Agnès Rötig
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Manuel, MD, PhD and PU-PH, is a Professor of Paediatrics at the Reference Centre for Inborn Errors of Metabolism at Necker University Hospital. After an undergraduate degree in Biochemistry and a residency in Paediatrics, he completed a PhD in mitochondrial biology, under the supervision of Dr Pierre Rustin at the University of Paris Descartes. He then was a post-doctoral fellow at Dr Jerry Vockley’s laboratory at the University of Pittsburgh, USA.
His clinical research interests include mitochondrial energy metabolism and homocysteine metabolism disorders for which he is a partner in the European collaborative network EHOD. His basic research projects include mitochondrial energy metabolism especially the links between mitochondrial diseases and interferon and the understanding of phenotypic variability in SDHB.
Manuel is a partner of the European ERA PerMed JTC2019 projects PerMiM focusing on personalized medicine in mitochondrial disease coordinated by Dr Holger Prokisch (Helmholtz Zentrum München, Germany). Gene therapy in a mouse model of maple syrup urine disease is the other research project in the setting of DIM (Domaine d’Intérêt Majeur, Ile de France).
Research: a scientific adventure
Our goal: to better understand genetic diseases to better treat them.