KATJA LOHMANN

 

PERSONAL INFORMATION

Position/Title: Vice Head (Institute of Neurogenetics), W2 Professor

Head of Research section Genetics of Rare Diseases

Address University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany

Tel: +49-451-31018209; Fax:+49-451-31018204

@: katja.lohmann@neuro.uni-luebeck.de; www.neurogenetics-luebeck.de

  

EDUCATION/POSITIONS

1995-1997 Studies of Biology (B.Sc. equivalent) at the Technical University Dresden

1997-2000 Studies of Biology (M.Sc. equivalent) at the Martin Luther University Halle-Wittenberg

2000-2003 PhD studies at the University of Lübeck, Institute of Human Genetics and Department of Neurology

2001-2002 PhD student at Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA (Prof. X.O. Breakefield)

2003-2009 Postdoctoral researcher at the Institute of Human Genetics and the Department of Neurology at the University of Lübeck

2005 Postdoctoral fellow at the Oregon Health and Science University, Portland, OR, USA (Prof. P.L. Kramer)

2010 Habilitation (Assistant Professor equivalent) at the Medical faculty of the University of Lübeck for Human Genetics

2009-2013 Research group leader at the Department of Neurology at the University of Lübeck

2013-present Research group leader and Vice Director of the Institute of Neurogenetics at the University of Lübeck

2015-2017 Professor (APL)

Since 2017 W2 Professor (Molecular Genetics of Rare Diseases)

 

ACADEMIC ACTIVITIES

2000-present Member of the German Society of Human Genetics, the European Society of Human Genetics, and the American Society of Human Genetics; Member of the International Parkinson and Movement Disorder Society

2004-present Ad hoc reviewer for >15 journals (e.g. American Journal of Human Genetics, Annals of Neurology, Brain, Movement Disorders, Molecular Psychiatry)

2013-present Reviewer for several funding agencies (e.g. DFG, BMBF, French National Research Agency, Research Foundation Flanders)

2017-present Member of the expert panel of the German Academy for Rare Neurological Diseases (DASNE)

2018-present Editorial board member Movement Disorders and DGNeurologie

2019-present Board member Dystract e.V.

2019-present Member of the Data Interpretation Task Force (DITF) of the European Reference Network on Rare Neurological diseases (ERN-RND)

2019-present Member of the Awards Committee of the International Parkinson and Movement Disorder Society

 

HONORS

2004 Heinrich Dräger Award

2008 Stipend of the Novartis Foundation

2011 Renate Maass Award for Brain Research

2013 David Marsden Award for Dystonia Research (Dystonia Europe)

 

Research Support and Grants

Upcoming research support

“Elucidating novel genetic causes of dystonia by large-scale sequencing”; (LO1555/10-1)

Principle Investigators: Katja Lohmann, Christine Klein, Hauke Busch

Funding period: 2020-2022

Amount: 950,000 €

 

Ongoing research support

“Identification of genetic factors for reduced penetrance in THAP1 dystonia”; LO1555/9-1

Principal Investigator: Katja Lohmann, PhD

Funding agency: German Research Foundation (DFG)

Funding period: 2016-2020

Amount: 145,000 €

 

“Etablierung des Koordinationszentrums der Deutschen Akademie für Seltene Neurologische Erkrankungen (DASNE) am Zentrum für Seltene Erkrankungen Lübeck“

Principal Investigator: Alexander Münchau, MD, Katja Lohmann, PhD

Funding agency: Damp Foundation

Funding period: 2019-2021

Amount: 392,400 €

 

Completed research support (selection)

“Investigation and therapy of dystonic diseases (DYSTRACT)” 01GM1514B

Principal Investigator (subproject): Katja Lohmann, PhD

Funding agency: Federal Ministry of Education and Research

Funding period: 2016 – 2019

Amount: 320,000 €

 

“Identification of novel dystonia genes in consanguineous families”, LO1555/8-1

Principal Investigator: Katja Lohmann, PhD

Funding agency: German Research Foundation (DFG)

Funding period: 2014-2016

Amount: 299,000 €

 

“Unraveling novel genetic cause in alcohol-responsive dystonia by exome sequencing”, NS065701

Principal Investigator: Katja Lohmann, PhD

Funding agency: Dystonia Coalition

Funding period: 2013-2014

Amount: 38,000 €

 

“Identification of targets and interactors of the DYT6-related transcription factor THAP1”, LO1555/3-2

Principal Investigator: Katja Lohmann, PhD

Funding agency: German Research Foundation (DFG)

Funding period: 2012-2015

Amount: 245,000 €

 

Genetic risk factors of musician´s dystonia, LO1555/4-1

Principal Investigator: Katja Lohmann, PhD

Funding agency: German Research Foundation (DFG)

Funding period: 2010-2013

Amount: 295,000 €

 

“Molecular characterization of the THAP1 (DYT6) gene and its role in dystonia”, LO1555/3-1

Principal Investigator: Katja Lohmann, PhD

Funding agency: German Research Foundation (DFG)

Funding period: 2009-2011

Amount: 220,000 €

 

“Identification of genetic causes of restless legs syndrome”, HE4547/1-1

Principal Investigator: Katja Lohmann, PhD

Funding agency: German Research Foundation (DFG)

Funding period: 2007-2008

Amount: 180,000 €

 

 

Career Development of Doctoral Students and Mentees

PhD thesis: 1 completed, 2 ongoing

MD thesis: 9 completed, 4 experimentally completed, 1 ongoing

Bachelor and master thesis: 1 completed master thesis, 1 completed bachelor thesis

Co-supervised thesis: 3 international PhD theses, 3 national MD theses, 1 international master theses, 1 national master thesis, 1 national bachelor thesis

Awards for team members: 4 MD students with scholarship “Promotionsstipendium”, 9 travel awards, 1 “Wissenschaftspreis” 2018 of the German Society of Musician´s Medicine

Teaching and Invited Talks

Teaching

Lectures                Neurobiomedizin for Master Molecular Life Sciences (2008-2012)

Human Genetics for Medical students, 2009, 2010

Neuroscience II (since 2013)

Rare Diseases (since 2014)

Seminars              Journal Club Neurogenetics, since 2000

Neurogenetic seminar for Master Molecular Life Sciences 2008, 2014

Consolidation course for Master students (since 2015)

Neurosciences II seminar (since 2013)

Internships (3-month) for Master Molecular Life Sciences: 3 times

Invited talks (since 2013)

  1. Lohmann K et al. Genome sequencing reveals a mutation in the TUBB4 gene as the cause of whispering dysphonia (DYT4 dystonia). Annual Meeting Deutsche Gesellschaft für Humangenetik, Dresden, March 2013.
  2. Lohmann K. A mutation in the TUBB4 gene as the cause of whispering dysphonia (DYT4 dystonia). Dystonia Europe. David Marsden Award presentation. Edinburgh, UK, September 2013.
  3. Lohmann K et al. Mutations in TUBB4 (DYT4) and GNAL (DYT25) are newly identified causes of dystonia with cranio-cervical involvement. Annual Meeting Deutsche Gesellschaft für Neurologie, Dresden, September 2013.
  4. Lohmann K. Next generation sequencing: Neue Gene für Bewegungsstörungen. Annual Meeting Deutsche Gesellschaft für Neurologie, Dresden, September 2013.
  5. Lohmann K. Genetische Risikofaktoren bei der Musiker-Dystonie. Annual Meeting Deutsche Gesellschaft für Neurologie, Dresden, September 2013.
  6. Lohmann K. Next generation sequencing facilitates identification of novel disease genes: TUBB4 and PDGFB as examples. Think Tank der Bachmann Strauss Dystonia and Parkinson Foundation. New York, NY, October 2013.
  7. Lohmann K. Genetics of Movement Disorders in the era of rapidly evolving methods. W2 professorship application at ETH Zurich. Zurich, Switzerland, March 2014.
  8. Lohmann K et al. A homozygous mutation in the complex IV assembly factor COX20 (FAM36A) as a novel cause of a dystonia-ataxia syndrome. Annual Meeting Deutsche Gesellschaft für Humangenetik. Essen, March 2014.
  9. Lohmann K. Genetik neurologischer Erkrankungen: Neue Methoden – neue Erkenntnisse. W2 professorship application at Universität Würzburg, Würzburg, October 2014.
  10. Lohmann K. Missing heritability: Vererbt, aber wie? Antrittsvorlesung (APL-Professor), Lübeck, Februar 2015.
  11. Lohmann K, Münchau A. Bewegungsstörungen: Welche Informationen helfen bei der genetischen Diagnostik. Educational Session 1. Annual Meeting Deutsche Gesellschaft für Humangenetik, Lübeck, March 2016.
  12. Lohmann K. Genetische Ursachen von Bewegungsstörungen. Annual Meeting Berufsverband Deutscher Nervenärzte (Mecklenburg-Vorpommern), Ueckermünde, April 2016.
  13. Lohmann K. Genetics of dystonia. Symposia on Treatment of dystonias, Hanover, May 2016.
  14. Lohmann K et al. Novel genes for complex dystonia: Homozygous mutations in MCOLN1, SACS, and ATCAY. Annual Meeting Deutsche Gesellschaft für Neurologie, Mannheim, September 2016.
  15. Lohmann K. Sinnvolle genetische Diagnostik im neurologischen Klinikalltag. Intensivkurs Neurologie der Ärztekammer Schleswig-Holstein, Bad Segeberg, October 2016.
  16. Lohmann K et al. Functional characterization of novel GNB1 mutations as a rare cause of global developmental delay. Annual Meeting Deutsche Gesellschaft für Humangenetik, Bochum, March 2017.
  17. Lohmann K. Genetik von M. Parkinson. Parkinson-Kolloquium des Parkinson-Zentrums Göttingen-Kassel, Göttingen, May 2017.
  18. Lohmann K. Detailed phenotyping in neurogenetic diseases as a key for NGS data interpretation in diagnostics. Annual Meeting European Society of Human Genetics, Copenhagen, May 2017.
  19. Lohmann K. Genes causing isolated dystonia: New mutations and pathogenic pathways. Annual Meeting Movement Disorder Society, Vancouver (Canada), June 2017.
  20. Lohmann K. „Mutation, Variante oder Polymorphismus?“ Annual Meeting Deutsche Gesellschaft für Neurologie. Leipzig, September 2017.
  21. Lohmann K. „Andere genetische Ursachen einer Dystonie“ Annual Meeting Deutsche Gesellschaft für Neurologie. Leipzig, September 2017.
  22. Lohmann K. „Überblick über Genotyp-Phänotyp-Datenbanken“ Annual Meeting Deutsche Gesellschaft für Neurologie. Leipzig, September 2017.
  23. Lohmann K. „Genetik bei neurologischen Erkrankungen: Was ist für den Kliniker wichtig und hat Therapierelevanz?“ Fortbildungsveranstaltung Neurologie für die Praxis. Essen, October 2017.
  24. Lohmann K. „NGS – Datenbearbeitung – Varianteninterpretation“ Workshop beim Gründungssymposium der DASNE. Wartburg/Eisenach, November 2017.
  25. Lohmann K et al. VPS13D. “Biallelic mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction”. Annual Meeting Deutsche Gesellschaft für Humangenetik. Münster, March 2018
  26. Lohmann K et al. VPS13D. “Biallelic mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction”. Care-for-Rare-Symposia. Tutzing, April 2018.
  27. Lohmann K. Sinnvolle genetische Diagnostik im neurologischen Klinikalltag. Intensivkurs Neurologie der Ärztekammer Schleswig-Holstein, Bad Segeberg, September 2018.
  28. Lohmann K. “New Insights in Dystonia” Annual Meeting Movement Disorder Society. Hong Kong, October 2018.
  29. Lohmann K. „Grundkurs: NGS – Datenbearbeitung – Varianteninterpretation“ Workshop bei der Jahrestagung der DASNE. Wartburg/Eisenach, November 2018.
  30. Lohmann K. Update: Genetik der Dystonien. 11. Symposium Bewegungsstörungen. Munich, July 2019.
  31. Lohmann K. Genetische Faktoren bei Dystonien. Annual Meeting Deutsche Gesellschaft für Neurologie. Stuttgart, September 2019
  32. Lohmann K. Pathogen oder benign: Interpretation von genetischen Testergebnissen. Annual Meeting Deutsche Gesellschaft für Neurologie. Stuttgart, September 2019
  33. Lohmann K. „Grundkurs: NGS – Datenbearbeitung – Varianteninterpretation“ Workshop bei der Jahrestagung der DASNE. Wartburg/Eisenach, November 2019.

SELECTED PUBLICATIONS

From ~200 original publications; total citations: ~8,000; h-index: 53

  1. Müller B, Hedrich K (equally contributing first author), Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. Evidence for paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71:1303-1311. [IF: 10.6]
  2. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652-662. [IF: 10.2]
  3. Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009;8:447-452. [IF: 18.1]
  4. Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010;68:554-559. [IF: 10.7]
  5. Lohmann K, Wilcox R, Winkler S, Ramirez A, Rakovic A, Park J, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang A, Münchau A, Kostic V, Simonyan M, Agzarian M, Ozelius LJ, Langeveld APM, Sue CM, Tijssen M, Klein C: Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013;73: 537–545. [IF: 11.9]
  6. Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013;45:1077-1082. [IF: 29.6]
  7. Lohmann K, Redin C, Tönnies H, Bressman SB, Martin-Subero JI, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Complex and dynamic chromosomal rearrangements in a family with seemingly non-Mendelian inheritance of dopa-responsive dystonia. JAMA Neurol 2017;74:806-812. [IF: 11.5]
  8. Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Genotype-phenotype relations for the Parkinson’s Disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord 2018;33:730-741. [IF: 8.1]
  9. Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins C, Lohmann K (co-corresponding author), van de Warrenburg BP, Burmeister M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol 2018;83:1075-1088. [IF: 9.5]
  10. Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk OL, Baumann H, Abbas Al-Sannaa, Hinrichs F, Navot N, Al Balwi MA, Oprea G, Holla OL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K. De-novo variants in TAOK1 cause neurodevelopmental disorders. Am J Hum Genet 2019;105:213-220. [IF: 9.9]