Professor Berger’s research interests include the genetic basis of monogenic and complex human disease with focus on retinal degenerations and dysfunctions (retinitis pigmentosa, macular degeneration, night blindness, exudative vitreoretinopathies, Norrie disease, Wagner disease); the molecular pathophysiology of retinal diseases; signaling pathways in retinal angiogenesis; generation and characterization of mouse models for monogenic human retinal degenerations. He and his research team are members of the Neuroscience Center of the University and ETH Zurich (ZNZ) as well as the Center for Integrative Human Physiology (ZIHP) at the University of Zurich. In addition to his research activities, Professor Berger is head of a diagnostic unit at IMMG, which provides genetic testing for a wide variety of monogenic (Mendelian) human diseases (e.g.neurologic, cardiac, ocular diseases). For more details please refer to the website of IMMG in Zurich: http://www.medmolgen.uzh.ch/en.html
Professor Berger’s Memberships in Professional Societies include: Membership of the American Society of Human Genetics (ASHG); Association for Research in Vision and Ophthalmology (ARVO); European Society of Medical Genetics (ESHG); Foederatio Analyticorum Medicinalium Helveticorum (FAMH); Swiss Society of Medical Genetics (Co-President 2010-2016).
Professor Berger’s Board memberships include: Swiss Society of Medical Genetics, elected Board Member (2005-2016) and Co-President FAMH (2010- 2016); Scientific Board member of the ‘Swiss Cohort Study on Air Pollution and Lung Disease in Adults (SAPALDIA)’ since March 2006; Foederatio Analyticorum Medicinalium Helveticorum (FAMH), Swiss Association of Directors in Laboratory Medicine, member of the ‘’Committee of Experts’ since July 2007; Scientific and Medical Advisory Board, Retina Suisse since April 2008.
Publications (last 6 years)
2017
Holst S, Müller T, Valomon A, Seebauer B, Berger W, Landolt HP (2017) Functional polymorphisms in dopaminergic genes modulate neurobehavioral and neurophysiological consequences of sleep deprivation. Sci Rep (in press).
Medeiros-Domingo A, Saguner AM, Magyar I, Duru F, Bahr A, Akdis D, Brunckhorst C, Berger W (2016) Arrhythmogenic right ventricular cardiomyopathy versus dilated cardiomyopathy: Implications of next generation sequencing in appropriate diagnosis. Europace (Epub ahead of print).
Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C (2017) Post-mortem whole exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet (Epub ahead of print).
Urry E, Jetter A, Holst SC, Berger W, Spinas GA, Langhans W, Landolt HP (2016) A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. J Psychopharmacol. (Epub ahead of print).
2016
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet 53:419-425.
Kloeckener-Gruissem B, Dours-Zimmermann MT, Skosyrski S, Brunner S, Mjaatvedt CH, Zimmermann DR, Rüther K, Berger W (2016) A potential mouse model for the erosive vitreoretinopathy of Wagner disease. Matters 20160500004.
Neubauer J, Haas C, Bartsch C, Domingo-Medeiros A, Berger W (2016) Postmortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. Int J Legal Med 130:1011-1021.
Tiwari A, Bahr, Baehr L, Fleischhauer J, Zinkernagel M, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W (2016) Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Sci Rep 6:28755.
Tiwari A., Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W (2016) Identification of novel and recurrent disease causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations. PLoS ONE 11:e0158692.
Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E (2016) Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Invest Ophthalmol Vis Sci 57:2637-2646.
2015
Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J (2015) Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Ther 22:413-420.
Gerth-Kahlert C, Seebauer B, Dold S, Hanson JVM, Wildberger H, Spörri A, van Waes H, Berger W (2015) Intra-familial phenotype variability in patients with Jalili syndrome. Eye 29:712-716.
2014
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J (2014) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 22:99-104.
Haghighi A, Tiwari A, Piri N, Nurnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nurnberg P, Berger W (2014) Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE 9: e112747.
Holst SC, Bersagliere A, Bachmann V, Berger W, Achermann P, Landolt HP (2014) Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. J Neurosci 8:566-573.
Oczos J, Sutter I, Kloeckener-Gruissem B, Berger W, Riwanto M, Rentsch K, Hornemann T, von Eckardstein A, Grimm C (2014) Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Invest Ophthalmol Vis Sci 55:4714-4727.
Valomon A, Holst SC, Bachmann V, Viola AU, Schmidt C, Zürcher J, Berger W, Cajochen C, Landolt HP (2014) Genetic polymorphisms of DAT1 and COMT differentially associate with actigraphy-derived sleep-wake cycles in young adults. Chronobiol Int 31:705-714.
2013
Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SMR, Kloeckener-Gruissem B (2013) The Cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Hum Mol Genet 22:3218-3226.
Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkie wicz E, Rutland J, Morgan LC, Pogorzelski A, Martin J, Haan EA, Berger W, Omran H, Witt M (2012) RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol 48:352-363.
Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP (2013) ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci USA 110:9856-9861.
Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, MacDonald MJ, Nas V, Fry AE, Berger W (2013) Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Eur J Hum Genet 21:352-356.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, QamarR, Webster AR, Cremers FP, Moore AT, Koenekoop RK (2013) Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat 34:1537-1546.
Oczos J, Grimm C, Barthelmes D, Sutter F, Menghini M, Kloeckener-Gruissem B, Berger W. (2013) Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age (Dordr) 35:1651-1662.
Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J (2013) A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Hum Gene Ther 24:97-104.
Thun GA, Imboden M, Berger W, Rochat T, Probst-Hensch NM (2013) The Association of a Variant in the Cell Cycle Control Gene CCND1 and Obesity on the Development of Asthma in the Swiss SAPALDIA Study. J Asthma 50:147-154.
2012
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C (2012) Whole-exome sequencing identifies mutations in GPR179 leading to autosomal recessive complete congenital stationary night blindness. Am J Hum Genet 90:321-330
Bachmann V, Klaus F, Bodenmann S, Schäfer N, Brugger P, Huber S, Berger W, Landolt HP (2011) Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cereb Cortex 22:962-970.
Bachmann V, Klein C, Bodenmann S, Schäfer N, Berger W, Brugger P, Landolt HP (2012) The BDNF Val66Met polymorphism modulates sleep intensity: EEG frequency- and state-specificity. Sleep 35:335-344.
Menghini M, Kloeckener-Gruissem B, Fleischhauer J, Kurz-Levin MM, Sutter FKP, Berger W, Barthelmes D (2012) Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age related macular degeneration. PLoS One 7:e42014, Epub July 25.
Oczos J, Grimm C, Barthelmes D, Sutter F, Menghini M, Kloeckener-Gruissem B, Berger W (2012) Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). AGE (Epub September 7 2012).
Zuercher J, Fritzsche M, Feil S, Mohn L, Berger W (2012) Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cell. Hum Mol Genet 21:2619-2630.
Zweifel SA, Maygar I, Berger W, Tschuor P, Becker M, Michels S (2012) Multimodal imaging of autosomal dominant drusen. Klin Monbl Augenheilkd 229:399-402.