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Alfred Klausegger, MSc

Lab Manager / Diagnostics

Research statement

Diagnostics and therapy of Epidermolysis bullosa. Since 2015 I focus on a new method of sequencing called "next generation sequencing", meanwhile an essential tool in diagnostics, and additionally has broad application spectrum in the field of therapy.

Personal interests

Since 1991, hang gliding with kites is my passion. Preferred flying areas are our Alps and the Canary Island Lanzarote.
Since 2012, I share my life with dog "Merlin" (Old German Tiger), with whom I am represented in agility competition sports. Other activities include mountain climbing in summer and cross-country skiing in winter.

Curriculum Vitae Alfred Klausegger

Professional Career

Since 2006
Lab manager and scientific associate in the Laboratory for Molecular Therapy at the EB-House (head Dr.J.Reichelt), Salzburger Landeskliniken (SALK, Salzburg)

Scientific associate in the Laboratory for Molecular Biology at the Department of Dermatology (head Prof.H.Hintner), Salzburger Landeskliniken (SALK, Salzburg)

Study visit with Prof. Dr. Jouni Uitto/ Dr. Leena Pulkkinnen Department of Dermatology & Cutaneous Biology, Thomas Jefferson University (Philadelphia, USA)
Research field: Epidermolysis Bullosa

Alternative service with Dr. Barbara Kofler in the Laboratory of Molecular Biological Diagnostics in the Children`s Hospital (head Prof. W. Sperl), Salzburger Landeskliniken (SALK, Salzburg)

Scientific associate at the Institute of Molecular Biology of the Austrian Academy of Sciences (Salzburg)



Mag. rer. nat., Institute of Molecular Biology of the Austrian Academy of Sciences, Paris Lodron Universität Salzburg
"Molecular characterisation of a new coronavirus: puffin coronavirus"
Research group: Dr. Reinhard Vlasak



2018 Scientific award in platin from the Paracelsus Medical University, Salzburg
2016 Scientific award in bronze from the Paracelsus Medical University, Salzburg
2014 Scientific award in bronze from the Paracelsus Medical University, Salzburg
2012 Scientific award in gold from the Paracelsus Medical University, Salzburg


Additional qualifications/training

2015 Ion Torrent PGM System Operation Training, Darmstadt
2009 Official examination of the Province of Salzburg with distinction (Office of the Salzburg Provincial Government)

Original Articles

  1. Mayr E, Ablinger M, Lettner T, Murauer EM, Guttmann-Gruber C, Piñón Hofbauer J, Hainzl S, Kaiser M, Klausegger A, Bauer JW, Koller U, Wally V. 5’ RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis bullosa. Int J Mol Sci 2022, 23(3):1732.
  2. Guttmann-Gruber C, Piñón Hofbauer J, Tockner B, Reichl V, Klausegger A, Hofbauer P, Wolkersdorfer M, Tham KC, Lim SS, Common JE, Diem A, Ude-Schoder K, Hitzl W, Lagler F, Reichelt J, Bauer JW, Lang R, Laimer M. Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial. Orphanet J Rare Dis 2021;16:473.
  3. Kocher T, Bischof J, Haas SA, March OP, Liemberger B, Hainzl S, Illmer J, Hoog A, Muigg K, Binder HM, Klausegger A, Strunk D, Bauer JW, Cathomen T, Koller U. A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa. Molecular Therapy - Nucleic Acids, 2021
  4. Ablinger M, Lettner T, Friedl N, Potocki H, Palmetzhofer T, Koller U, Illmer J, Liemberger B, Hainzl S, Klausegger A, Reisenberger M, Lambert J, Van Gele M, Desmet E, Van Maelsaeke E, Wimmer M, Zauner R, Bauer JW, Wally V. Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa. 2021;22:3326.
  5. Fuentes I, Guttmann-Gruber C, Tockner B, Diem A, Klausegger A, Cofré-Araneda G, Figuera O, Hidalgo Y, Morandé P, Palisson F, Rebolledo-Jaramillo B, Yubero MJ, Cho RJ, Rishel HI, Marinkovich MP, Teng JMC, Webster TG, Prisco M, Eraso LH, Piñon Hofbauer J, South AP. Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa. Scientific reports 2020;10:15064.
  6. Kocher T, March OP, Bischof J, Liemberger B, Hainzl S, Klausegger A, Hoog A, Strunk D, Bauer JW, Koller U. Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2020, ISSN 0022-202X
  7. Kocher T, Wagner RN, Klausegger A, Guttmann-Gruber C, Hainzl S, Bauer JW, Reichelt J, Koller U. Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination. Mol Ther Nucleic Acids 2019;18:496-507
  8. March OP, Lettner T, Klausegger A, Ablinger M, Kocher T, Hainzl S, Peking P, Lackner N, Rajan N, Hofbauer JP, Guttmann-Gruber C, Bygum A, Koller U, Reichelt J.  Gene editing-mediated disruption of epidermolytic ichthyosis-associated KRT10 alleles restores filament stability in keratinocytes. J Invest Dermatol. 2019 Aug;139(8):1699-1710.e6. doi: 10.1016/j.jid.2019.03.1146. Epub 2019 Apr 15.
  9. Jurca C, Bembea M, Kozma K, Klausegger A, Szilagyi A, Jurca A. Epidermolysis bullosa Associated with Type 1 Diabetes Mellitus - Case Report of a Lethal Disease. Journal Rare Disorders: Diagnosis & Therapy 2018 May; 4 (2):6.
  10. Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One 2017 Dec 11;12(12):e0189324.
  11. Hirsch T, Rothoeft T, Teig N, Bauer JW, Pellegrini G, De Rosa L, Scaglione D, Reichelt J, Klausegger A, Kneisz D, Romano O, Secone Seconetti A, Contin R, Enzo E, Jurman I, Carulli S, Jacobsen F, Luecke T, Lehnhardt M, Fischer M, Kueckelhaus M, Quaglino D, Morgante M, Bicciato S, Bondanza S, De Luca M. Regeneration of the entire human epidermis using transgenic stem cells. Nature 2017 Nov 16;551(7680):327-332.
  12. Kocher T, Peking P, Klausegger A, Murauer EM, Hofbauer JP, Wally V, Lettner T, Hainzl S, Ablinger M, Bauer JW, Reichelt J, Koller U. Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases. Mol Ther 2017 Nov 1;25(11):2585-2598.
  13. Hainzl S, Peking P, Kocher T, Murauer EM, Larcher F, Del Rio M, Duarte B, Steiner M, Klausegger A, Bauer JW, Reichelt J, Koller U. COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa. Mol Ther 2017; Nov 1;25(11):2573-2584. 
  14. Prodinger C*, Klausegger A*, Diem A, Bauer JW, Laimer M. Laryngo-onycho-cutaneous (-like) syndrome due to mutated Plectin. J Eur Acad Dermatol Venereol 2017 Aug;31(8):e373-e374. *Equally contributing authors.
  15. Fuentes I, Campos M, Repetto G, Morandé P, Yubero MJ, Gonzalez S, Klausegger A, Schnitzhofer P, Pohla-Gubo G, Bauer J, Palisson F. Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. Br J Dermatol 2017 Apr;176(4):1090-1092.
  16. Breitenbach J, Gruber C, Klausegger A, Trost A, Bogner B, Reitsamer H, Bauer JW. Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa. J Dtsch Dermatol Ges 2015 Dec;13(12):1257-66.
  17. Breitenbach JS, Rinnerthaler M, Trost A, Weber M, Klausegger A, Gruber C, Bruckner D, Reitsamer HA, Bauer JW, Breitenbach M. Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging. Aging (Albany NY) 2015 Jun;7(6):389-411.
  18. Koller U, Hainzl S, Kocher T, Hüttner C, Klausegger A, Gruber C, Mayr E, Wally V, Bauer JW, Murauer EM. Trans-splicing improvement by the combined application of antisense strategies. Int J Mol Sci 2015 Jan 6;16(1):1179-91. 
  19. Lettner T, Lang R, Klausegger A, Hainzl S, Bauer JW, Wally V. MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex. PLoS One 2013 Jul 19;8(7).
  20. Bauer JW, Brandl C, Haubenreisser O, Wimmer B, Weber M, Karl T, Klausegger A, Breitenbach M, Hintner H, von der Haar T, Tuite MF, Breitenbach-Koller L. Specialized yeast ribosomes: a customized tool for selective mRNA translation. PLoS One 2013 Jul 8;8(7).
  21. Klausegger A, Laimer M, Bauer JW. Darier disease. Hautarzt 2013; Jan;64(1):22-5.
  22. Klausegger A, Wiednig M, Urban C, Reiter H, Bauer JW, Aberer W. Successful allogeneic cord blood transplantation in a patient with Evans syndrome leads to correction of hereditary angioedema type I as secondary effect. Bone Marrow Transplant 2012 Sep;47(9):1259-61.
  23. Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A, Kowalewski C, Kutkowska-Kaźmierczak A, Woźniak K, Niepokój K, Klausegger A, Sypniewska-Jutkiewicz J, Stępień A, Bal. Novel and recurrent COL7A1 mutation in a Polish population. Eur J Dermatol 2012; 22 (1):23-8.
  24. Shaiq PA, Klausegger A, Muzaffar F, Bauer JW, Khan MI, Khanum A, Qamar R, Raja GK. Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. J Dermatol 2012; 39 (7):640-1.
  25. Shaiq PA, Klausegger A, Bauer JW, Azam M, Raja GK, Qamar R. Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family. J Dermatol 2012; May;39(5):472-4.
  26. Koller U, Wally V, Mitchell LG, Klausegger A, Murauer EM, Mayr E, Gruber C, Hainzl S, Hintner H, Bauer JW. A novel screening system improves genetic correction by internal exon replacement. Nucleic Acids Res 2011; 39 (16):e108.
  27. Van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat 2011; 32 (10):1100-7.
  28. Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd LB, Tran K, North KN, Bauer JW, Chow CW, Ryan MR, Murrell DF. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle Nerve 2011; 44(1):135-41.
  29. Klausegger A*, Nischler E* , Wagner RN, Pletschacher F, Hintner H, Bauer JW. Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier´s disease. Arch Dermat Res 2011; 303(5):371-4. *Equally contributing authors.
  30. Murauer EM, Gache Y, Gratz IK, Klausegger A, Muss W, Gruber C, Meneguzzi G, Hintner H, Bauer JW. Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa J Invest Dermatol 2011; 131(1):74-83. 
  31. Frew J, Lim SW, Klausegger A, Chow CW, Tran K, Su J, Orchard D, Varigos G, Sawamura D, Nishie W, Shimizu H, Murrell DF. Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen. Australasian Journal of Dermatology 2011 Nov;52(4):e1-4.
  32. Nischler E, Klausegger A, Huettner C, Pohla-Gubo G, Diem A, Bauer JW, and Hintner H. Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions. Dermatology Research and Practice 2009; Epub 2010 Jan 20. 
  33. Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H. A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. Pediatric Dermatology 2009; Jan-Feb; 26 (1): 115-7. 
  34. Laimer M, Lanschützer CM, Nischler E, Klausegger A, Diem A, Pohla-Gubo G, Bauer JW, Hintner H. Epidermolysis bullosa hereditaria. Monatsschrift Kinderheilkunde; Springer Medizin Verlag 2008.
  35. Wally V, Klausegger A, Ulrich K, Lochmüller H, Krause S, Wiche G, Mitchell L, Hintner H, Bauer JW. 5´-Trans-Splicing Repair of the PLEC1 gene. Journal of Investigative Dermatology 2008; 128: 568 - 574.
  36. Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, Lanschuetzer C, Bauer JW, Hintner H. Novel KIND1 gene mutation in Kindler Syndrome with severe gastrointestinal tract involvement. Arch Dermatol 2006 Dec; 142(12): 1619-24. 
  37. Oender K, Lanschuetzer CM, Laimer M, Klausegger A, Paulweber B, Kofler B, Hintner H, Bauer JW. Introducing a fast and simple PCR-RFLP analysis for the detection of mutant thiopurine S-methyltransferase alleles TPMT*3A and TPMT*3C. J Eur Acad Dermatol Venereol 2006 Apr; 20(4):396-400.
  38. Laimer* M, Klausegger* A, Aberer W, Oender K, Lanschuetzer CM, Wally V, Hintner H. Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema. Genetics in Medicine 2006 Apr; 8(4). *Equally contributing authors.
  39. Laimer M, Bauer JW, Klausegger A, Koller J, Pohla-Gubo G, Muss W, Sadler E, Emberger M, Lanschuetzer CM, Hametner R, Wally V, Oender K, and Hintner H. Skin grafting as a therapeutic approach in pretibially restricted junctional Epidermolysis bullosa. Br J Dermatol 2006 Jan;154(1):185-7.
  40. Sadler E, Martin Laimer, Anja Diem, Klausegger A, Pohla-Gubo G, Muss W, Hachleitner J, Stadlhuber R, Bauer JW, Hintner H. Zahnveränderungen bei junctionaler Epidermolysis Bullosa. Bericht über eine Patientin mit einer Mutation im LamB3 Gen. [Dental Alterations in junctional Epidermolysis Bullosa. Report of a Patient with a mutation in the LamB3 Gene.] J Dtsch Dermatol Ges 2005; 3: 359-363.
  41. Moll PR, Klausegger A, Hintner H, Reischl W, Breitenbach M, Richter K. Identification of vitamin D target genes in human keratinocytes by subtractive screening. J Steroid Biochem Mol Biol 2004 May;89-90:261-7.
  42. Laimer M, Lanschützer CM, Pohla-Gubo G, Klausegger A, Diem A, Riedl R, Bauer J, Hintner H. Epidermolysis Bullosa. Klinik, Diagnostik, Therapie und Vorstellung des Projektes "Epidermolyis bullosa Haus", einem multidisziplinären Zugang zu dieser seltenen Erkrankung. Pädiatrie & Pädologie 2003; 6:30-38. 
  43. Kofler B, Berger A, Santic R, Moritz K, Almer D, Tuechler C, Lang R, Emberger M, Klausegger A, Sperl W, Bauer JW. Expression of neuropeptide galanin and galanin receptors in human skin. J Invest Dermatol 2004 Apr;122(4):1050-3.
  44. Buchroithner B, Klausegger A, Ebschner U, Anton-Lamprecht I, Lanschuetzer C, Laimer M, Pohla-Gubo G, Hintner H, Bauer JW. Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. Lab Invest 2004; 84(10):1279-88. 
  45. Lanschuetzer CM, Muss W, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, Hintner H. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler syndrome is an apoptotic disorder. J Cutan Pathol 2003; 30:553-560.
  46. Lanschuetzer CM, Emberger M, Hametner R, Klausegger A, Pohla-Gubo G, Hintner H, Bauer JW. Pathogenic Mechanisms in Epidermolysis Bullosa Naevi. Acta Dermato-Venereologica 2003; 83 (5):332-7.
  47. Lanschuetzer CM, Bauer JW, Emberger M, Pohla-Gubo G, Hametner R, Klausegger A, Hintner H. Epidermolysis bullosa hereditaria. Pädiatrische Praxis 2002/2003; 62: 307-328. 
  48. Dallinger G, Puttaraju M, Mitchell LG, Yancey KB, Yee C, Klausegger A, Hintner H, Bauer JW. Development of spiceosome-mediated RNA trans-splicing (SMaRT trade mark) for the correction of inherited skin diseases. Exp Dermatol 2003 Feb;12(1):37-46.
  49. Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H., Bauer JW. A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene K14 (Y248X; 744delC/insAG) causes rezessive epidermolysis bullosa simplex type Köbner. Clin Exp Dermatol 2003 Jan;28(1):77-79.
  50. Klausegger A, Pulkkinen L, Pohla-Gubo G, Dallinger G, Puttinger R, Uitto J, Hintner H, Bauer JW. Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? J Invest Dermatol 2001 Mar;116(3):474-5.
  51. Bauer JW, Rouan F, Kofler B, Rezniczek GA, Kornacker I, Muss W, Hametner R, Klausegger A, Huber A, Pohla-Gubo G, Wiche G, Uitto J, Hintner H. A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectindeficiency. Am J Pathol 2001 Feb;158(2):617-25.
  52. Kofler B, Klausegger A. Simplified PCR set-up using a frozen preformulated mix for the detection of cytomegalovirus. Diagn Microbiol Infect Dis 1999 May;34(1):33-5.
  53. Klausegger A, Strobl B, Regl G, Kaser A, Luytjes W, Vlasak R. Identification of a coronavirus hemagglutinin-esterase with a substrate specificity different from those of influenza C virus and bovine coronavirus. J Virol 1999 May;73(5):3737-43.
  54. Klausegger A, Hell M, Berger A, Zinober K, Baier S, Jones N, Sperl W, Kofler B. Gram type-specific broad-range PCR amplification for rapid detection of 62 pathogenic bacteria. J Clin Microbiol 1999 Feb;37(2):464-6.

Book Chapter

  1. Klausegger A, Bauer JW. Mutation analysis. In: Life with Epidermolysis bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Ed.: Hintner H, Fine JD. Springer Berlin, Wien, New York. 2008; 54-64


  1. Laimer M, Lanschützer CM, Nischler E, Klausegger A, Diem A, Pohla-Gubo G, Bauer JW, Hintner H. Hereditary blistering diseases. Symptoms, diagnosis and treatment of Epidermolysis bullosa. Hautarzt 2009 May;60(5):378-88.


  1. Prodinger C, Klausegger A, Bauer J.W., Laimer M. Molekulare Diagnostik und Therapie der Epidermolysis bullosa. Monatsschr Kinderheilkd 2021, 169:805–814
  2. Thiem A, Has C, Diem A, Klausegger A, Hamm H, Emmert S. [Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study]. Hautarzt 2021.
  3. Kocher T, March OP, Bischof J, Liemberger B, Hainzl S, Klausegger A, Hoog A, Strunk D, Bauer JW, Koller U. CRISPR-Cas9-basierte Korrekturstrategie – vorhersagbare Reparaturergebnisse. Spectrum Dermatologie 2020;04/2020:62-3.
  4. Guttmann-Gruber C, Tockner B, Scharler C, Hüttner C, Common JE, Tay ASL, Denil SLIJ, Klausegger A, Trost A, Breitenbach J, Schnitzhofer P, Hofbauer JP, Wolkersdorfer M, Diem A, Laimer M, Strunk D, Bauer JW, Reichelt J, Lang R, Pinon Hofbauer J. VD3-Analog Calcipotriol verbessert Wundheilungsprozess. Spectrum Dermatologie 2019;02/2019.

Teaching Alfred Klausegger

Leadership of different lab courses in the EB-house:
EADV 2012 - Training Course Genodermatosis: Molecular Diagnosis
EADV 2010 - Training Course Genodermatosis: Molecular Diagnosis
EADV 2009 - Training Course Genodermatosis: Molecular Diagnosis
Geneskin 2007 - Training Course Genodermatosis: Molecular Diagnosis
Geneskin 2006 - Training Course Genodermatosis: Molecular Diagnosis

Supervision of 4 diploma theses and 2 specialised papers for secondary school.
Supervision of 62 internships (1 month each)
Supervision of 15 civil cervants (9-12 month each)

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