17-21 Sep 2019


Athens - Greece




1000-1200 participants

Dr. Holger Prokisch

Current position: Head of the research group “Genetics of Mitochondrial Diseases”, Institute of Human Genetics, Helmholtz Zentrum München and Technical University Munich, Germany and Visiting Professor at Beijing Childre’s Hospital, Capital Medical University, Beijing, China
Research interests: Holger Prokisch explores genetic variation in both rare and common diseases with a functional focus on mitochondria-related disease mechanisms. His group was successful in integrating genomic approaches with detailed functional biochemical investigations. He introduced WES for mitochondrial diseases and published more than 40 novel Mendelian disease genes, mostly related to mitochondrial dysfunction and neurodegeneration with brain iron accumulation. He has participated in functional genomics, proteome and transcriptome studies. He coordinates the German and European networks for mitochondrial disorders (mitoNET and GENOMIT) and leads the NGS analysis. Very recently, he extended the genetic tool box by establishing an RNA sequencing pipeline for the diagnosis of Mendelian diseases.
Selected publications

  1. Feichtinger RG, … Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet 2017, 101(4):525-538.
  2. Kremer LS, ,,, Prokisch H. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun 2017, 8:15824.
  3. Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Treatable mitochondrial diseases: cofactor metabolism and beyond. Brain. 2017 Feb;140(2):e11.
  4. Kornblum C, … Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 2013, 45(2):214-9
  5. Haack TB, … Prokisch H. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 2010, 42:1131-4.

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