Helga Rehder

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Helga Rehder (born July 27, 1938 in Bremen ) is a German specialist in pathology and human genetics and a university professor .

Life

Helga Rehder passed her Abitur in 1958 at the Nicolaus-Cusanus-Gymnasium in Bonn . She completed her medical studies at the Universities of Bonn and Hamburg in 1965 with the state examination and received her license to practice medicine in 1968. In 1969 the doctorate to Dr. med. with the doctoral thesis: Contribution to the development of liver vein anomalies . As a research assistant at the Department of Pediatric Pathology in Bonn, she dealt specifically with malformation pathology and clinical cytogenetics . In 1980 she completed her habilitation with a thesis on fetal pathology in prenatal diagnostics . This new area of ​​medicine has been funded for many years by the German Research Foundation as part of the priority program “ Prenatal Diagnostics of Genetic Diseases”. She centrally carried out the fetal pathological examinations.

Her research group “Genetic Pathology” was incorporated into the Institute for Human Genetics in 1984, where she acquired the additional title “Medical Genetics”. After rejecting two appointments to professorships at the University of Cologne and the University of Odense / Denmark, she accepted a professorship for clinical genetics at the University of Marburg in 1990 . There she built a laboratory for fetal pathology and syndromology with a clinical-genetic focus. In 1996 she was recognized as a specialist in human genetics. She completed research and lecture stays as well as visiting professorships in Italy, France, England, China and the USA. Since 1997 she has taught as a visiting professor at the Medical University of Vienna, where she gives genetic counseling and lectures.

As a member of the scientific advisory board of the German Medical Association, she developed guidelines on reproductive medicine , human genetic and gene therapy problem areas.

Services

Helga Rehder established a new research area at the intersection of pathology and clinical genetics through the systematic fetal pathological and genetic examination of prenatally diagnosed or spontaneously aborted abnormal fetuses and newborns, which she received from centers for prenatal diagnostics in the Federal Republic, Denmark, France, Holland, Austria and Italy, such as B. after the dioxin accident in Seveso . Her research focus, funded by numerous third-party funded projects and documented by a large number of publications, included the etiological and pathogenetic clarification and syndromic allocation of genetically and teratogenic fetal development disorders, as well as the presentation of the phenotypic syndrome manifestations in fetuses that would not have survived until birth due to their severity. As a consequence, their investigations enabled statements to be made about the risk of recurrence, the spectrum of manifestations and the possibilities of targeted prenatal diagnosis in subsequent pregnancies.

honors and awards

  • Hans Nachtsheim Prize (1979)
  • Women's advancement award of the University of Marburg (2002)
  • Jacob Henle Medal of the University of Göttingen (2003)
  • Dres Haacker Medal (2006)
  • Honorary member of the Society for Pediatric Pathology (2019)

Fonts

  • with F. Labbé: Prenatal morphology in Meckel's syndome (with special reference to polycystic kidneys and double encephalocele). Prenatal Diagnosis 1, 1981, 161-172
  • with R.Johannisson, A.Gropp, H.Winking, W.Coerdt, E. Schwinger: Down's syndrome in the male - Reproductive pathology and meiotic studies. Hum. Gene. 63, 1983, 132-138
  • with W. Coerdt, I. Gausmann, R. Johannisson, A. Gropp: Quantitative histology of human fetal testes in chromosomal disease. Pediatr. Pathol. 3, 1985, 245-259
  • with W. Coerdt, R. Eggers, F. Klink, E. Schwinger: Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions? Hum. Gen. 82, 1989, 377-385
  • with S.Herzog, DRLohmann, K.Buiting, A.Schuler, B.Horsthemke, H.Rieder: Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization. Hum. Genet. 108, 2001, 98-104
  • with C.Bartsch, M.Aslan, J.Koehler, P.Miny, W.Holzgreve, B.Fritz: Duplication dup (1) (q32q44) detected by comparative genomic hybridization (CGH): Further delineation of trisomies 1q. Fetal.Diagn.Ther. 16, 2001, 265-273
  • with B.Fritz, C.Hallermann, J.Olert, W.Coerdt, B.Fuchs, M.Bruns, M.Aslan, S.Schmidt, H.Müntefering: Cytogenetic analyzes of culture failures by comparative genomic hybridization (CGH) - Re-evaluation of chromosome aberration rates in early spontaneous abortions. Eur.J Hum.Genet. 9, 2001, 539-547
  • with SAHahn, B. Greenhalf, I.Ellis, M.Sina-Frey, H.Rieder, B.Korte, B.Gerdes, R.Kress, A.Ziegler, JARaeburn, D.Campra, R.Grützmann, M.Rothmund , W.Schmiegel, JPNeoptolemos, DKBartsch: BRCA2 germline mutations in familial pancreatic carcinoma. J. Natl Cancer Inst. 95, 2003, 214-221
  • with G.Hulskamp, ​​D.Wieczorek, H.Rieder, F.Louwen, I.Hornig-Franz, CHRickert, J.Horst, E.Harms: Raine syndrome: report of a family with three affected sibs and a further delineation of the syndrome. Clin. Dysmorphol. 12, 2003, 153-160
  • with K.Schoner, J.Figiel, J.Steinhard: Severe facial clefts in acrofacial dysostosis. A consequence of prenatal exposure to mycophenolate mofetil? Obstet.Gynecol. 111, 2008, 483-486 with H. Allgayer, S. Fulda: Hereditary Tumors. From Genes to Clinical Consequences. Wiley-Blackwell, 2009
  • with F.Laccone, K.Schoner, B.Krabichler, B.Kluge, R.Schwerdtfeger, J.Zschocke: Desbuquois skeletal dysplasia type I and fetal hydrops due to three novel mutations in the CANT1 gene. Eur.J.Hum.Genet. 19, 2011, 1133–1137
  • with K.Schoner, B.Kluge, F.Louwen, E.Schwinger, J.Neesen: Klinefelter twins presenting with discordant aneuploidies, acardia, forked umibilical cord and with different gonadal sex despite monozygosity. Prenat.Diagn. 32, 2012, 173-179
  • with F.Laccone, S.Kircher, J.Behunova, RLSchild, C.Rapp, B.Schulze, J.Neesen, K. Schoner: Piepkorn type of osteochondrodysplasia. Defining the severe end of FL'NB-related skeletal disorders in three fetuses and a 106-year old exhibit. Am.J.Med.Genet. 176, 2018, 1559–1568

Web links

Individual evidence

  1. DNB 482444479
  2. DNB 910100217