Marius Ueffing

Core expertise: Experimental ophthalmology; medical genetics; bioanalytics; systems biology, signal transduction, proteomics, neurobiology

Marius Ueffing is the Director of the Institute for Ophthalmic Research and Co-Chair of the Centre for Ophthalmology at the University Medical Center in Tuebingen, one of the largest centers for ophthalmology in Europe. He directs the Medical Bioanalytics Core Facility a core facility of the medical faculty in Tübingen and acts as a Member of the Board of QBiC, the Quantitative Biology Center of the University of Tuebingen. His research combines cellular and molecular physiology with genome and proteome analysis to analyse the impact of genetic and environmental factors on human health on a systemic level. Focus of the lab is neurodegeneration in the retina with specific emphasis on the molecular mechanisms of disease towards development of targeted therapy.

Prof. Ueffing has a long-standing history in medical research as well as a background in protein science and molecular genetics. His previous positions included that of a Research Associate at Columbia University, College of Physicians and Surgeons, New York, followed by group leader positions in pharmaceutical industry at Goedecke-Parke-Davis and at the University Medical Centre Munich.

Before and jointly with his appointment to Tübingen, Marius Ueffing was Director of the Independent Research Unit/Division of Protein Science at the National Research Centre for Environment and Health in Munich. He has served as President of the German Society for Proteome Research (DGPF) and in 2011 re-launched and chaired Proteomic Forum, Europe’s largest conference on Proteomics. He has served on multiple boards including the German federal ministry’s Steering Committee for Systems Biology and -Medicine and the Board of Directors of the Human Proteome Organization, HUPO (www.hupo.org) and several committees advising the EU commission on its scientific framework programmes including FW6 and Horizon 2020. Ueffing has been partnering Europe’s largest consortia on affinity-proteomics, Proteome Binders and Affinomics (www.affinomics.org) developing proteomic strategies to analyse and in silico model large and dynamic protein networks.

Within the last 6 years, the group has teamed up with computational and structural biologists to develop and apply molecular and bioanalytical strategies towards functional analysis of protein complexes and protein networks in disease, cellular signalling pathways and disease associated protein networks involved in neurodegeneration (Boldt et al J.Clin. Invest. 2011; Kiel et al, Mol.Sys.Biol. (f1000.com), Boldt et al. Nature Commun. 2016). At the technical level, the group has developed a new generation of patented tandem affinity tags allowing fast and efficient complex purification without involving proteolytic cleavage of the tag as well as the investigation of systemic perturbation of protein networks in disease.

Long engaged in systems biology, Marius Ueffing has been partnering two large EU Systems Medicine ITN consortia within the 7^th FW ‘SYSCILIA’ (co-ordination) (www.syscilia.org) focussed on hereditary ciliopathies and PRIMES, co-ordinated by Walter Kolch, Dublin, focused on the ERBB2 pathway in cancer. Since 2012, Marius Ueffing coordinates the ophthalmology module of the German National Cohort (www.nationale-kohorte.de); between 2015 and 2019, he coordinates the Horizon 2020 Project EYE-RISK (www.eyerisk.eu) Europe’s largest funded research consortium on eye diseases, applying a systems medicine approach based on a patient cohort of 100.000. Marius Ueffing has published more than 240 original articles so far.

• 1988 – 1990: Fellowship of the German Academic Exchange Program 'Gene Technology'
• 1998: Research and Travel Award of the Japanese Ministry for Science and Education
• 2011 Paula and Richard von Hertwig Award
• 2018: Meyer-Schwickerath Lecture of the German Retinological Society
• 2019: Human Proteome Organisation Clinical and Translational Proteomics Award
• 2019: The John H. Dunnington, MD Memorial Fund Lecture, New York

• German Ophthalmological Society, DOG; Member of the Board
• German Society for Gene Therapy (DGGT; since 1995)
• German Society for Proteome Research (DGPF);
  Founding Member; Member of the Board since 2001, President 2009-2011)
• ProRetina (Patients Organization), Member of the Medical and Scientific Advisory Board
• Human Proteome Organization (HUPO); Member of the Board of Directors, 2009-15
• Retina International, Member of the Medical and Scientific Advisory Board

1. Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L, Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A, Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I, LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O, Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R, Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M, Boldt K, Lynn DJ, Kolch W. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS(G13D). Nat Commun. 2020 Jan 24;11(1):499. doi: 10.1038/s41467-019-14224-9. PubMed PMID: 31980649.
2. Achberger K, Probst C, Haderspeck J, Bolz S, Rogal J, Chuchuy J, Nikolova M, Cora V, Antkowiak L, Haq W, Shen N, Schenke-Layland K, Ueffing M, Liebau S, Loskill P. Merging organoid and organ-on-a-chip technology to generate complex multi-layer tissue models in a human retina-on-a-chip platform. Elife. 2019 Aug 27;8. pii: e46188. doi: 10.7554/eLife.46188. PubMed PMID: 31451149.
3. Handa JT, Bowes Rickman C, Dick AD, Gorin MB, Miller JW, Toth CA, Ueffing M, Zarbin M, Farrer LA. A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration. Nat Commun. 2019 Jul 26;10(1):3347. doi: 10.1038/s41467-019-11262-1. Review. PubMed PMID: 31350409; PubMed Central PMCID: PMC6659646.
4. Kersten E, Dammeier S, Ajana S, Groenewoud JMM, Codrea M, Klose F, Lechanteur YT, Fauser S, Ueffing M, Delcourt C, Hoyng CB, de Jong EK, den Hollander AI; EYE-RISK Consortium. Metabolomics in serum of patients with non-advanced age-related macular degeneration reveals aberrations in the glutamine pathway. PLoS One. 2019 Jun 20;14(6):e0218457. doi: 10.1371/journal.pone.0218457. eCollection 2019. PubMed PMID: 31220133; PubMed Central PMCID: PMC6586309
5. van Leeuwen EM, Emri E, Merle BMJ, Colijn JM, Kersten E, Cougnard-Gregoire A, Dammeier S, Meester-Smoor M, Pool FM, de Jong EK, Delcourt C, Rodrigez-Bocanegra E, Biarnés M, Luthert PJ, Ueffing M, Klaver CCW, Nogoceke E, den Hollander AI, Lengyel I. A new perspective on lipid research in age-related macular degeneration. Prog Retin Eye Res. 2018 Nov;67:56-86. doi: 10.1016/j.preteyeres.2018.04.006. Epub 2018 May 4. Review. PubMed PMID: 29729972.
6. Tikidji-Hamburyan A, Reinhard K, Storchi R, Dietter J, Seitter H, Davis KE, Idrees S, Mutter M, Walmsley L, Bedford RA, Ueffing M, Ala-Laurila P, Brown TM, Lucas RJ, Münch TA. Rods progressively escape saturation to drive visual responses in daylight conditions. Nat Commun. 2017 Nov 27;8(1):1813. doi: 10.1038/s41467-017-01816-6. PubMed PMID: 29180667; PubMed Central PMCID: PMC5703729.
7. Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. PubMed PMID: 27173435; PubMed Central PMCID: PMC4869170.
8. Guaitoli G, Raimondi F, Gilsbach BK, Gómez-Llorente Y, Deyaert E, Renzi F, Li X, Schaffner A, Jagtap PK, Boldt K, von Zweydorf F, Gotthardt K, Lorimer DD, Yue Z, Burgin A, Janjic N, Sattler M, Versées W, Ueffing M, Ubarretxena-Belandia I, Kortholt A, Gloeckner CJ. Structural model of the dimeric Parkinson's protein LRRK2 reveals a compact architecture involving distant interdomain contacts. Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4357-66. doi: 10.1073/pnas.1523708113. Epub 2016 Jun 29. PubMed PMID: 27357661; PubMed Central PMCID: PMC4968714
9. Kortvely E, Hauck SM, Behler J, Ho N, Ueffing M. The unconventional secretion of ARMS2. Hum Mol Genet. 2016 Jun 6. pii: ddw162. [Epub ahead of print] PubMed PMID: 27270414.
10. Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. PubMed PMID: 26167768; PubMed Central PMCID: PMC4536769.
11. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270. PubMed PMID: 26044572; PubMed Central PMCID: PMC4468853.
12. Thompson RB, Reffatto V, Bundy JG, Kortvely E, Flinn JM, Lanzirotti A, Jones EA, McPhail DS, Fearn S, Boldt K, Ueffing M, Ratu SG, Pauleikhoff L, Bird AC, Lengyel I. Identification of hydroxyapatite spherules provides new insight into subretinal pigment epithelial deposit formation in the aging eye. Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1565-70. doi: 10.1073/pnas.1413347112. Epub 2015 Jan 20. Erratum in: Proc Natl Acad Sci U S A. 2015 Jul 21;112(29):E3971. PubMed PMID: 25605911; PubMed Central PMCID: PMC4321314.
13. Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. PubMed PMID: 23793029; PubMed Central PMCID: PMC3786259.
14. Kiel C, Vogt A, Campagna A, Chatr-aryamontri A, Swiatek-de Lange M, Beer M, Bolz S, Mack AF, Kinkl N, Cesareni G, Serrano L, Ueffing M. Structural and functional protein network analyses predict novel signaling functions for rhodopsin. Mol Syst Biol. 2011 Nov 22;7:551. doi: 10.1038/msb.2011.83. PubMed PMID: 22108793; PubMed Central PMCID: PMC3261702.
15. Stanton CM, Yates JR, den Hollander AI, Seddon JM, Swaroop A, Stambolian D, Fauser S, Hoyng C, Yu Y, Atsuhiro K, Branham K, Othman M, Chen W, Kortvely E, Chalmers K, Hayward C, Moore AT, Dhillon B, Ueffing M, Wright AF. Complement factor D in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011 Nov 11;52(12):8828-34. doi: 10.1167/iovs.11-7933. PubMed PMID: 22003108; PubMed Central PMCID: PMC3230905.
16. Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23. PubMed PMID: 21606596; PubMed Central PMCID: PMC3104757
17. Piccoli G, Condliffe SB, Bauer M, Giesert F, Boldt K, De Astis S, Meixner A, Sarioglu H, Vogt-Weisenhorn DM, Wurst W, Gloeckner CJ, Matteoli M, Sala C, Ueffing M. LRRK2 controls synaptic vesicle storage and mobilization within the recycling pool. J Neurosci. 2011 Feb 9;31(6):2225-37. doi: 10.1523/JNEUROSCI.3730-10.2011. PubMed PMID: 21307259; PubMed Central PMCID: PMC6633036.
18. Meixner A, Boldt K, Van Troys M, Askenazi M, Gloeckner CJ, Bauer M, Marto JA, Ampe C, Kinkl N, Ueffing M. A QUICK screen for Lrrk2 interaction partners--leucine-rich repeat kinase 2 is involved in actin cytoskeleton dynamics. Mol Cell Proteomics. 2011 Jan;10(1):M110.001172. doi: 10.1074/mcp.M110.001172. Epub 2010 Sep 27. PubMed PMID: 20876399; PubMed Central PMCID: PMC3013447.
19. Kortvely E, Hauck SM, Duetsch G, Gloeckner CJ, Kremmer E, Alge-Priglinger CS, Deeg CA, Ueffing M. ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):79-88. doi: 10.1167/iovs.09-3850. Epub 2009 Aug 20. PubMed PMID: 19696174.
20. den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007 Jul;39(7):889-95. Epub 2007 Jun 3. PubMed PMID: 17546029.
21. Taussig MJ, Stoevesandt O, Borrebaeck CA, Bradbury AR, Cahill D, Cambillau C, de Daruvar A, Dübel S, Eichler J, Frank R, Gibson TJ, Gloriam D, Gold L, Herberg FW, Hermjakob H, Hoheisel JD, Joos TO, Kallioniemi O, Koegl M, Konthur Z, Korn B, Kremmer E, Krobitsch S, Landegren U, van der Maarel S, McCafferty J, Muyldermans S, Nygren PA, Palcy S, Plückthun A, Polic B, Przybylski M, Saviranta P, Sawyer A, Sherman DJ, Skerra A, Templin M, Ueffing M, Uhlén M. ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome. Nat Methods. 2007 Jan;4(1):13-7. Erratum in: Nat Methods. 2007 Feb;4(2):187. Koegll, Manfred [corrected to Koegl, Manfred]. PubMed PMID: 17195019.