New lab member joining our group soon
Starting October 2022
Moritz Paha is an MD candidate student who will join our efforts to decipher pathomechaisms underlyig WDFY3-related NDD sarting October this year. Very thankful to Anna Kirstein and Antje Garten for their great support and wonderful collaboration that is extending over multiple projects. We will be using SH-SY5Y human neurolastoma cells...pretty close to my in vitro neuronal cell cultures start in research. Looking forward to have this new project on our dashboard.
Transcriptome profiling of individuals with 15q13.3 microdeletion syndrome
April 2021 – August 2022
Based on blood gene expression profiles overlapping with differentially expressed genes in brains of a 15q13.3 microdeletion mouse model we suggest that altered gene expression occurs early in the brain development. We suggest that the hypervariable phenotype may be related to an increased vulnerability towards inflammatory and immune insults, which when triggered during development, leads to more severe neurologic symptoms. Read more in our publication https://www.nature.com/articles/s41598-022-17604-2
Comparative genomics of the ancient Steller's sea cow genome
September 2019 – February 2022
We identified pathways and genes involved in body size and lipid storage by comparing the genomes of the ancient Steller’s sea cow, possibly the largest recent non-cetacean mammal, to the ones of the modern smaller sirenians, the dugong and the manatee. The major finding of this project was the inactivation of ALOXE3 and ALOX12B genes, which in humans cause ichthyosis, a phenotype similar to the bark-like skin of Steller's sea cow. Read more in our pulication https://www.science.org/doi/10.1126/sciadv.abl6496
R-Shiny app to facilitate tissue choice for RNA-seq based diagnosis
January 2020 – November 2021
PTEE allows exploration of RNA-seq shortcomings and the identification of accesible tissues which can be collected from the patient in order to increase the success rate of RNA-seq based diagnosis and gene discovery. Read more in our publication https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-021-08125-9.
Online tool can be found at https://bioinf.eva.mpg.de/PTEE/.