Adrian Danek and Gabriel Miltenberger-Miltenyi
University of Munich
The team in Munich (Adrian Danek and Gabriel Miltenberger-Miltenyi) achieved some important insights into ChAc patient care: they started the re-vitalization of the chorein blot diagnosis and soon this will be offered again for patients world-wide.
Also, they initiated the exome-wide genetic characterization of ChAc patients from the patient cohort in Munich. In addition, together with Antonio Velayos-Baeza, they started the set-up of a human mutation database for the VPS13A gene, that will be integrated into the open-access Leiden Open Variation Database and into the NIH-linked ClinVar/ClinGen mutation database. These sources are widely used by physicians diagnosing patients with ChAc, thus our initiative will support these colleagues in the correct interpretation of VPS13A mutations. These milestones were achieved through the generous donation of seed money by Betty and Carl Pforzheimer to the Advocacy, in honour and in memory of Glenn Irvine.
As a part of scientific investigation projects, they initiated the elaboration of a zebrafish model of ChAc in Munich.
In collaboration with the LMU Department of Nuclear Medicine in Munich, they examined microglial activation in the brain of McLeod's patients (from Munich) and ChAc patients (from Dresden). Results of this study will help to analyse ongoing central nervous system processes in these NA syndromes.
Additionally, they set up a collaboration with Saarland University, for the biophysical-biochemical characterization of erythrocytes in ChAc on samples from Munich and from Dresden. Pilot results are will be presented at the 10th NA Symposium, in Barcelona March 25-27 2020.