Prof. Dr. Di Donato

My Research Interest in RESIST

In our genetic ambulance we see a number of patients suffering from high susceptibility to infections. Our goal is to identify the underlying genetic mechanisms leading to defects in the immune system and thereby causing the patients being vulnerable to infections. Though the complete human genome has been sequenced already decades ago it remains a challenge to identify the DNA variations leading to dysfunctional immunological responses. Some of these syndromes are found in less than 500 out of one million people making it even more difficult to find the disease causing mutations. Therefore, we are working closely together in interdisciplinary teams with clinicians and researchers and use the latest methods to find the right diagnosis for our patients and enable customized, effective treatments.

Prof. Dr. Nataliya Di Donato

Prof. Dr. Nataliya Di Donato – Curriculum Vitae

Current Position

  • Since May 2023 Director of the Department of Human Genetics, Hannover Medical School (MHH)

Undergraduate and Postgraduate Training

  • 1996 – 2002 Medical studies, Medical University Charkiw, Ukraine

  • 2002 – 2003 Practical year, Academy for postgradual medical studies, Kiew, Ukraine

  • 2003 – 2005 Physician at Genetics department, Academy for postgradual medical studies, Institute for Heart surgery, Kiew, Ukraine

  • 2007 MD PhD in Medical genetics, University of Zurich, Switzerland

  • 2007 – 2010 Medical fellowship in Human genetics, Institute for Clinical Genetics, University Hospital Dresden, Germany

  • 2010 Board Certification in Human genetics

  • 2018 PD / Habilitation in Human Genetics, Medical Faculty, TU Dresden, Germany

Academic and Research Posts

  • 2010 Attending Physician at the Institute for Clinical genetics, TU Dresden and MVZ at the University Hospital Dresden

  • 2011 – 2014 Head of the Genetic Outpatient clinic
    Deputy director of the Institute for Clinical Genetics, TU Dresden

  • 2014 – 2015 DFG Clinician Scientist at the Center for Integrative Brain Research, Seatlle Children’s Research Institute, Seattle, WA, USA

  • Since 2015 PI at the Institute for clinical genetics, TU Dresden

  • 2016 – 2017 Habilitation scholar at the medical faculty Carl Gustav Carus, TU Dresden

  • 2018 – 2021 Head of the Genetic Outpatient clinic, Institute for clinical genetics, TU Dresden

  • 2018 – 2023 PI and Deputy director of the Institute for clinical genetics, TU Dresden

  • Since May 2023 Director of the Department of Human Genetics, Hannover Medical School (MHH)

Other Scientific Roles

  • Management committee member of the European network Neuro-MIG Cost Action project on Brain Malformations and work group leader “Genetic diagnostics and functional genomic diagnostics”

  • Coordinator of the 2020 EJP-RD funded EU consortium PredACTINg

  • Member of the scientific advisory board and member of the program commission of the German Society for Human Genetics (GfH)

Awards and Prizes

  • 2005 Federal excellence fellowship of the Swiss Federal Fellowship Commission for foreign students, Switzerland

  • 2014 DFG research scholarship at the Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA

  • 2016 Habilitation grant, medical faculty Carl Gustav Carus, TU Dresden

  • 2021 Else Kröner excellence fellowship for clinicians at senior physician level

Recommended Links

For further information about Prof. Di Donato’s scientific work please check the following links:

Ten most important publications

Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, GĂ¶ĂŸwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 May 4;110(5):774-789.

Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain. 2022 Sep 14;145(9):3274-3287.

Greve JN, SchwĂ€be FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ. Frameshift mutation S368fs in the gene encoding cytoskeletal ÎČ-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics. Eur J Cell Biol. 2022 Apr;101(2):151216.

Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. 2020 Nov;16(11):618-635.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, FrĂŒhwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, GrĂŒtzmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Nat Commun. 2018 Oct 12;9(1):4250.

Schmelzer L, Smitka M, Wolf C, Lucas N, TĂŒngler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M. Variable clinical phenotype in two siblings with Aicardi-GoutiĂšres syndrome type 6 and a novel mutation in the ADAR gene. Eur J Paediatr Neurol. 2018 Jan;22(1):186-189.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 3;99(5):1117-1129.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, RiviÚre JB, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar;23(3):292-301.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82.

Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep 13;489(7415):313-7.

Contact

Prof. Dr. Nataliya Di Donato
   Director
Department of Human Genetics Hannover Medical School
  Carl-Neuberg-Str. 1
30625 Hannover
  +49 511 532 – 4523
  Didonato.Nataliya@
mh-hannover.de