Curriculum vitae (CV)

Ruthild Weber studied Human Medicine at the Ruprecht-Karls-University Heidelberg, the Yale University School of Medicine, New Haven, CT, U.S.A. and the United Medical and Dental Schools of Guy's and St. Thomas's Hospitals, University of London, England.

She obtained her Dr. med. under Prof. Dr. Ulrich Schwabe and Prof. Dr. Martin J. Lohse in pharmacology at the Ruprecht-Karls-University Heidelberg with the topic "Localization and characterization of A1 adenosine receptors in brain, kidney and adrenal gland by radioligand binding and autoradiography".

During her doctoral studies, she also conducted research in the Department of Neuroscience, Preclinical Research, Sandoz AG, Basel, Switzerland, at the Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, U.S.A. and at the Department of Internal Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, U.S.A.

After completing her studies and doctorate, Ruthild Weber initially worked as a physician at the Neurosurgical University Hospital in Heidelberg, where she developed an interest in neuro-oncology. When she moved to Prof. Dr. Thomas Cremer at the Institute of Human Genetics at Ruprecht-Karls-Universität Heidelberg, she was able to work on neurooncological issues using genetic and cell biological methods and begin her specialist training in human genetics.

Ruthild Weber deepened her expertise in tumor genetics and cell biology as a postdoctoral researcher with Prof. Dr. Peter Lichter at the German Cancer Research Center DKFZ Heidelberg, where she also worked on translational issues.

2001 Completion of further training as a specialist in human genetics under Prof. Dr. Claus R. Bartram, Institute of Human Genetics at Ruprecht-Karls-Universität Heidelberg and habilitation in human genetics with the topic "Genomic changes in solid tumors and their association with tumor progression and prognosis".

2002 Appointment as C3 professor (endowed professorship of the German Cancer Aid from 2002 to 2007) and senior physician at the Institute of Human Genetics, Rheinische Friedrich-Wilhelms-Universität Bonn. Here, Ruthild Weber continued her research into oncogenetics. In addition, she was involved in neurogenetic issues through her leading role in diagnostics, which she also worked on scientifically with her working group. In Bonn, she also continued her nephrological work during her doctorate and worked on nephrogenetic topics.

In 2012, she moved to a W2/C3 professorship for neurooncogenetics at the Institute of Human Genetics at Hannover Medical School (MHH). Here, Ruthild Weber heads the "Neurooncogenetics, Neurogenetics, Nephrogenetics" team, an interdisciplinary group of scientists and physicians working on the investigation of brain tumour genomes, the identification of genetic causes of brain tumours, rare neurological and nephrological diseases and the functional characterization of identified disease-relevant genes/gene variants in cell and animal models as well as the translation of these findings into patient care.
Ruthild Weber's group was significantly involved in this work (see selected publications below),

• identifying focadhesin, encoded by the FOCAD gene, as a tumor suppressor protein, particularly in gliomas (Brockschmidt et al., Brain, 2012) and characterizing it (Brand et al., Acta Neuropathol, 2020),
• to demonstrate, by studying brain tumor families, that certain genes play a role in brain tumor risk when rare variants are present in the germline, such as the ADAR and RNASEH2B genes (Beyer & Brand et al., Acta Neuropathol, 2017), which are associated with Aicardi-Goutières syndrome, a leukodystrophy, the CDH1 gene (Förster & Brand et al., Acta Neuropathol, 2021), which is associated with hereditary diffuse gastric carcinoma, and the POLE and POLD1 genes (Weber et al., Acta Neuropathol Comm, 2023), which are associated with polymerase proofreading-associated polyposis,
• in the tumor predisposition syndrome neurofibromatosis type 2, to span an arc from comprehensive genetic characterization to proof of response to a new drug therapy (Basenach & Förster et al., Clin Neuropathol, 2022),
• rare germline variants in the genes FIG4 (Osmanovic & Rangnau et al., Eur J Hum Genet, 2017), SPG7 (Osmanovic & Widjaja et al., J Neurol, 2020), DHTKD1 (Osmanovic & Gogol et al., Genes, 2022) and SUMO4 (Osmanovic et al., J Neurol, 2022) are associated with the risk of the neurodegenerative disease amyotrophic lateral sclerosis or with its phenotype,
• rare germline variants in the genes CHD1L (Brockschmidt et al., Nephrol Dial Transplant, 2012), TBC1D1 (Kosfeld et al., Hum Genet, 2016), LIFR (Kosfeld et al., Hum Mol Genet, 2017; Christians et al., Hum Mol Genet, 2020), GDF6 (Martens et al., Eur J Hum Genet, 2020), DACT1 (Christians et al., Hum Genet, 2023) and TSHZ3 (Kesdiren et al., Eur J Hum Genet, 2025) as being associated with congenital anomalies of the kidneys and urinary tract.

Further projects on these topics are currently in progress.

Qualification:

• Specialist in human genetics
  

Memberships:

• German Society for Human Genetics GfH
• European Society of Human Genetics ESHG
• European Society for Paediatric Nephrology ESPN
• Society for Pediatric Nephrology GPN
• International Pediatric Nephrology Association IPNA
• German University Association DHV
  

Teaching activities:

Participation in the Heidelberg University Didactics Course at the Heidelberg University of Education. For 20 years, bedside teaching as well as teaching internships, seminars and lectures on various neuro-oncological and human genetics topics in study programs for Human medicine, biomedicine, neuroscience and PhD programs at four universities.

Reviewer:

• German Research Foundation DFG
• German Cancer Aid e.V.
• Wilhelm Sander Foundation
• The Netherlands Organization for Health Research and Development ZonMw
• Cancer Research UK
• Various journals e.g. New England Journal of Medicine, Nature Genetics, Acta Neuropathologica, American Journal of Human Genetics, Kidney International, International Journal of Cancer
  

Prizes and scholarships:

• Scholarship from the European Science Foundation ESF
• Fulbright Scholarship
• Scholarship from the DFG Research Training Group "Molecular and Cellular Neurobiology"
• Training grant from the German Research Foundation DFG
  

Main research interests:

• Neurooncogenetics
• Familial brain tumors
• Neurogenetics (in particular the genetics of amyotrophic lateral sclerosis)
• Nephrogenetics (in particular the genetics of congenital anomalies of the kidneys and urinary tract)
  

Selected publications:

1. Greipel L, Martens H, Werfel L, Gjerstad AC, Auber B, Geffers R, Bräsen JH, Jankauskiene A, Bjerre A, Kanzelmeyer N, Haffner D, Weber RG.
   Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management.
   Kidney Int Rep, 2025 Sep 03. [Online ahead of print][read online]

2. Kesdiren E, Martens H, Brand F, Werfel L, Wedekind L, Trowe MO, Schmitz J, Hennies I, Geffers R, Gucev Z, Seeman T, Schmidt S, Tasic V, Fasano L, Bräsen JH, Kispert A, Christians A, Haffner D, Weber RG.
   Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.
   Eur J Hum Genet, 33, 44-55, 2025.[read online]

3. Weber CAM, Krönke N, Volk V, Auber B, Förster A, Trost D, Geffers R, Esmaeilzadeh M, Lalk M, Nabavi A, Samii A, Krauss JK, Feuerhake F, Hartmann C, Wiese B, Brand F, Weber RG.
   Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
   Acta Neuropathol Commun, 11, 184, 2023.[read online]
4. Werfel L, Martens H, Hennies I, Gjerstad AC, Fröde K, Altarescu G, Banerjee S, Valenzuela Palafoll I, Geffers R, Kirschstein M, Christians A, Bjerre A, Haffner D, Weber RG.
   Diagnostic yield and benefits of whole-exome sequencing in CAKUT patients diagnosed in the first thousand days of life.
   Kidney Int Rep, 8, 2439-2457, 2023.[read online]
5. Christians A, Kesdiren E, Hennies I, Hofmann A, Trowe M-O, Brand F, Martens H, Gjerstad AC, Gucev Z, Zirngibl M, Geffers R, Seeman T, Billing H, Bjerre A, Tasic V, Kispert A, Ure B, Haffner D, Dingemann J, Weber RG.
   Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
   Hum Genet, 142, 73-88, 2023.[read online]
6. Osmanovic A, Förster A, Widjaja M, Auber B, Das AM, Christians A, Brand F, Petri S, Weber RG.
   A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics.
   J Neurol, 269, 4863-4871, 2022.[read online].
7. Basenach E, Förster A, Raab P, Alzein S, Schmidt G, Krauss JK, Schlegelberger B, Heidenreich F, Auber B, Hartmann C, Wiese B, Weber RG.
   Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the NF2:c.784C>T p.(Arg262*) variant.
   Clin Neuropathol, 41, 162-167, 2022.
8. Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, Feuerhake F, Langhans C-D, Schmidt G, Andersen PM, Ludolph AC, Weishaupt JH, Brand F, Petri S, Weber RG.
   Heterozygous DHTKD1 variants in two European cohorts of amyotrophic lateral sclerosis patients.
   Genes (Basel), 13, 84, 2022.[read online].
9. Förster A, Brand F, Banan R, Hüneburg R, Weber CAM, Ewert W, Kronenberg J, Previti C, Elyan N, Beyer U, Martens H, Hong B, Bräsen JH, Erbersdobler A, Krauss JK, Stangel M, Samii A, Wolf S, Preller M, Aretz S, Wiese B, Hartmann C, Weber RG.
   Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
   Acta Neuropathol, 142, 191-210, 2021.[read online]
10. Martens H, Hennies I, Getwan M, Christians A, Weiss A-C, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG.
    Rare heterozygous GDF6 variants in patients with renal anomalies.
    Eur J Hum Genet, 28, 1681-1693, 2020.[read online]
11. Osmanovic A, Widjaja M, Förster A, Weder J, Wattjes MP, Lange I, Sarikidi A, Auber B, Raab P, Christians A, Preller M,
    Petri S, Weber RG.
    SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
    J Neurol, 267, 2732-2743, 2020.[read online]
12. Christians A, Weiss AC, Martens H, Klopf MG, Hennies I, Haffner D, Kispert A, Weber RG.
    Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies.
    Hum Mol Genet, 29, 1192-1204, 2020.[read online]
13. Brand F, Förster A, Christians A, Bucher M, Thomé CM, Raab MS, Westphal M, Pietsch T, von Deimling A, Reifenberger G, Claus P, Hentschel B, Weller M, Weber RG.
    FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas.
    Acta Neuropathol, 139, 175-192, 2020.[read online]
14. Kosfeld A, Martens H, Hennies I, Haffner D, Weber RG.
    Congenital anomalies of the kidneys and urinary tract (CAKUT).
    Med Gen, 30, 448-460, 2018.[read online]
15. Beyer U, Brand F, Martens H, Weder J, Christians A, Elyan N, Hentschel B, Westphal M, Schackert G, Pietsch T, Hong B, Krauss JK, Samii A, Raab P, Das A, Dumitru CA, Sandalcioglu IE, Hakenberg OW, Erbersdobler A, Lehmann U, Reifenberger G, Weller M, Reijns MAM, Preller M, Wiese B, Hartmann C, Weber RG.
    Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
    Acta Neuropathol, 134, 905-922, 2017.[read online]
16. Kosfeld A, Brand F, Weiss AC, Kreuzer M, Goerk M, Martens H, Schubert S, Schäfer AK, Riehmer V, Hennies I, Bräsen JH, Pape L, Amann K, Krogvold L, Bjerre A, Daniel C, Kispert A, Haffner D, Weber RG.
    Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
    Hum Mol Genet, 26, 1716-1731, 2017.
17. Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, Raab P, Preller M, Petri S, Weber RG.
    FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.
    Eur J Hum Genet, 25, 324-331, 2017.[read online]
18. Kosfeld A, Kreuzer M, Daniel C, Brand F, Schäfer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Bräsen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG.
    Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
    Hum Genet, 135, 69-87, 2016.[read online]
19. Weller M, Weber RG (co-first author), Willscher E, Riehmer V, Hentschel B, Kreuz M, Felsberg J, Beyer U, Löffler-Wirth H, Kaulich K, Steinbach JP, Hartmann C, Gramatzki D, Schramm J, Westphal M, Schackert G, Simon M, Martens T, Boström J, Hagel C, Sabel M, Krex D, Tonn JC, Wick W, Noell S, Schlegel U, Radlwimmer B, Pietsch T, Loeffler M, von Deimling A, Binder H, Reifenberger G.
    Molecular classification of diffuse cerebral WHO grade II/III gliomas using genome- and transcriptome-wide profiling improves stratification of prognostically distinct patient groups.
    Acta Neuropathol, 129, 679-693, 2015.[read online]
20. Reifenberger G, Weber RG (co-first author), Riehmer V, Kaulich K, Willscher E, Wirth H, Gietzelt J, Hentschel B, Westphal M, Simon M, Schackert G, Schramm J, Matschke J, Sabel MC, Gramatzki D, Felsberg J, Hartmann C, Steinbach JP, Schlegel U, Wick W, Radlwimmer B, Pietsch T, Tonn JC, von Deimling A, Binder H, Weller M, Loeffler M for the German Glioma Network.
    Molecular characterization of long-term survivors of glioblastoma using genome- and transcriptome-wide profiling.
    Int J Cancer, 135, 1822-1831, 2014.
21. Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C, Kabisch S, Engels H, Tierling S, Zivicnjak M, Schacherer F, Haffner D, Weber RG.
    Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
    Hum Genet, 132, 825-841, 2013.[read online]
22. Brockschmidt A, Trost D, Peterziel H, Zimmermann K, Ehrler M, Grassmann H, Pfenning P, Waha A, Wohlleber D, Brockschmidt FF, Jugold M, Hoischen A, Kalla C, Waha A, Seifert G, Knolle PA, Latz E, Hans VH, Wick W, Pfeifer A, Angel P, Weber RG.
    KIAA1797/FOCAD encodes a novel focal adhesion protein with tumor suppressor function in gliomas.
    Brain, 135, 1027-1041, 2012.
23. Brockschmidt A, Chung B, Weber S, Fischer D-C, Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD, Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG.
    CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
    Nephrol Dial Transplant, 27, 2355-2364, 2012.
24. Weber S, Landwehr C, Renkert M, Hoischen A, Wühl E, Denecke J, Radlwimmer B, Haffner D, Schaefer F, Weber RG.
    Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.
    Nephrol Dial Transplant, 26, 136-143, 2011.
25. Brockschmidt A, Filippi A, Charbel Issa P, Nelles M, Urbach H, Eter N, Driever W, Weber RG.
    Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.
    Hum Genet, 130, 645-655, 2011.
26. Hoischen A, Ehrler M, Fassunke J, Simon M, Baudis M, Landwehr C, Radlwimmer B, Lichter P, Schramm J, Becker AJ, Weber RG.
    Comprehensive characterization of genomic aberrations in gangliogliomas by comparative genomic hybridization (CGH), array-based CGH and interphase-FISH.
    Brain Pathol, 18, 326-337, 2008.
27. Landwehr C, Montag M, van der Ven K, Weber RG.
    Rapid comparative genomic hybridization protocol for prenatal diagnosis and its application to aneuploidy screening of human polar bodies.
    Fertil Steril, 90, 488-496, 2008.
28. Weber RG.
    Array-CGH for the analysis of tumor genomes.
    Med Gen, 20, 395-400, 2008.
29. Reutter H, Hoischen A, Ludwig M, Stein R, Radlwimmer B, Engels H, Wolffenbuttel KP, Weber RG.
    Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.
    BJU Int, 100, 646-650, 2007.
30. Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG.
    Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
    Hum Mol Genet, 16, 1488-1494, 2007.
31. Trost D, Ehrler M, Fimmers R, Felsberg J, Sabel MC, Kirsch L, Schramm J, Wiestler OD, Reifenberger G, Weber RG.
    Identification of genomic aberrations associated with shorter overall survival in patients with oligodendroglial tumors.
    Int J Cancer, 120, 2368-2376, 2007.
32. Engels H, Brockschmidt A, Hoischen A, Landwehr C, Bosse K, Walldorf C, Toedt G, Radlwimmer B, Propping P, Lichter P, Weber RG.
    DNA-microarray analysis identifies candidate regions and genes in unexplained mental retardation.
    Neurology, 68, 743-750, 2007.
33. Weber RG, Hoischen A, Ehrler M, Zipper P, Kaulich K, Blaschke B, Becker AJ, Weber-Mangal S, Jauch A, Radlwimmer B, Schramm J, Wiestler OD, Lichter P, Reifenberger G.
    Frequent loss of chromosome 9, homozygous CDKN2A/p14ARF/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas.
    Oncogene, 26, 1088-1097, 2007.
34. Ehrbrecht A, Müller U, Wolter M, Hoischen A, Koch A, Radlwimmer B, Actor B, Mincheva A, Pietsch T, Lichter P, Reifenberger G, Weber RG.
    Comprehensive genomic analysis of desmoplastic medulloblastomas: identification of novel amplified genes and separate evaluation of the different histological components.
    J Pathol, 208, 554-563, 2006.
35. Actor B, Cobbers JMJL, Büschges R, Wolter M, Knobbe CB, Lichter P, Reifenberger G, Weber RG.
    Comprehensive analysis of genomic alterations in gliosarcoma and its two tissue components.
    Genes Chromosomes Cancer, 34, 416-427, 2002.
36. Weber RG, Rieger J, Naumann U, Lichter P, Weller M.
    Chromosomal imbalances associated with response to chemotherapy and cytotoxic cytokines in human malignant glioma cell lines.
    Int J Cancer, 91, 213-218, 2001.
37. Weber RG, Pietsch T, von Schweinitz D, Lichter P.
    Characterization of genomic alterations in hepatoblastomas: A role for gains on chromosomes 8q and 20 as predictors of poor outcome.
    Am J Pathol, 157, 571-578, 2000.
38. Weber RG, Bridger JM, Benner A, Weisenberger D, Ehemann V, Reifenberger G, Lichter P.
    Centrosome amplification as a possible mechanism for numerical chromosome aberrations in cerebral primitive neuroectodermal tumors with TP53 mutations.
    Cytogenet Cell Genet (name since 2002: Cytogenet Genome Res), 83, 266-269, 1998.
39. Weber RG, Scheer M, Born IA, Joos S, Cobbers JMJL, Hofele C, Reifenberger G, Zöller JE, Lichter P.
    Recurrent chromosomal imbalances detected in biopsy material from oral premalignant and malignant lesions by combined tissue microdissection, universal DNA amplification, and comparative genomic hybridization.
    Am J Pathol, 153, 295-303, 1998.
40. Weber RG, Boström J, Wolter M, Baudis M, Collins VP, Reifenberger G, Lichter P.
    Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: Toward a genetic model of meningioma progression.
    P Natl Acad Sci USA, 94, 14719-14724, 1997.
41. Weber RG, Sabel M, Reifenberger J, Sommer C, Oberstrass J, Reifenberger G, Kiessling M, Cremer T.
    Characterization of genomic alterations associated with glioma progression by comparative genomic hybridization.
    Oncogene, 13, 983-994, 1996.
42. Weber RG, Sommer C, Albert FK, Kiessling M, Cremer T.
    Clinically distinct subgroups of glioblastoma multiforme studied by comparative genomic hybridization.
    Lab Invest, 74, 108-119, 1996.
43. Weber RG, Jones CR, Lohse MJ, Palacios JM.
    Autoradiographic visualization of A1 adenosine receptors in rat brain with [3H]8-cyclopentyl-1,3-dipropylxanthine.
    J Neurochem, 54, 1344-1353, 1990.
44. Weber RG, Jones CR, Palacios JM, Lohse MJ.
    Autoradiographic visualization of A1-adenosine receptors in brain and peripheral tissues of rat and guinea pig using 125I-HPIA.
    Neurosci Lett, 87, 215-220, 1988.