Genetics of autoimmune encephalitis


Project term

11/2022 - 11/2025

Granted budget

no DZHK funding

Research resource used

DZHKomics resource

Keywords

Autoimmune brain inflammation, genetics, genome

Principal Investigator

Gregor Kuhlenbäumer, Anja Tietz, Frank Leypoldt (Kiel University and University Hospital Schleswig Holstein Kiel, Dept. of Neurology)

Autoimmune brain inflammations are a group of rare, serious brain diseases caused mainly by auto-antibodies, which have only been known for about 15 years and lead to neurological and psychiatric symptoms.

The national research network CONNECT-GENERATE (https://generate-net.de/connect-generate.html), funded by the Federal Ministry of Education and Research (BMBF), aims to improve the diagnosis and treatment of people with autoimmune brain diseases. Subproject 3 investigates the genetic basis of these diseases using modern genetic methods, such as genome-wide association studies, expression analyses (RNAseq), and microbiome sequencing. In the second funding period starting in 2023, we will use genome sequencing of patients to gain an even deeper insight into the genetics of brain inflammations. In addition to the genomes of the patients, comparative genomes of healthy controls of the same ethnicity are equally important. Through collaboration with the DZHK, we can use the pseudonymised control data already available there, which would otherwise have to be generated anew at great expense.

Publications

  1. Grüter T, Möllers FE, Tietz A, Dargvainiene J, Melzer N, Heidbreder A, et al. Clinical, serological and genetic predictors of response to immunotherapy in anti-IgLON5 disease. Brain. 2022.
  2. Strippel C, Herrera-Rivero M, Wendorff M, Tietz AK, Degenhardt F, Witten A, et al. A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies. Brain. 2022.
  3. Tietz AK, Angstwurm K, Baumgartner T, Doppler K, Eisenhut K, Elisak M, et al. Genome-wide Association Study Identifies 2 New Loci Associated With Anti-NMDAR Encephalitis. Neurol Neuroimmunol Neuroinflamm. 2021;8(6).