Zentrum f. Pränataldiagnostik u. Humangenetik Kudamm 199

Dr. med. Hans Joachim Bürger

Facharzt für Humangenetik

Beruflicher Werdegang

2001 - 2009
Consultant für Genetik, Gentechnologie und molekulare Medizin an den Kompetenzzentren für Biowissenschaften und Versicherungsmedizin, Munich Re Group, München
1999 - 2001
Kommisarischer Leiter der Abt. Molekulargenetik des Instituts für Humangenetik an der Charité, Medizinische Fakultät der Humboldt-Universität zu Berlin
1994 - 1999
Wissenschaftlicher Mitarbeiter am Institut für Humangenetik, Charité bzw. Universitätsklinikum Rudolf Virchow bzw. Universitätsklinikum Charlottenburg, Humboldt-Universität zu Berlin bzw. Freie Universität Berlin
1994
Arzt im Praktikum am Institut für Humangenetik der Freien Universität Berlin
1993 - 1994
Arzt im Praktikum an der Abteilung für Nephrologie, Hypertensiologie und Genetik, Franz-Volhard-Klinik, Max-Delbrück-Centrum für Molekulare Medizin, Berlin-Buch

Ausbildung

2007
Introduction to Health Economics; University Oxford
2001
Anerkennung als Facharzt für Humangenetik; Landesärztekammer Berlin
1996
Promotion am Institut für Humangenetik der Freien Universität Berlin; Thema: Molekulargenetische Untersuchungen zu Genotyp-Phänotyp-Korrelationen bei Zystischer Fibrose; Note: summa cum laude
1995
European School of Medical Genetics in Sestri Levante, Italia
1994
Approbation als Arzt
1984 - 1992
Studium der Medizin, Biochemie und Nordamerikanistik; Freie Universität Berlin, Eastern Virginia Medical School, Norfolk, VA, USA und Universität Wien, Österreich
1983 - 1984
Zivildienst im Rettungsdienst, Bayerisches Rotes Kreuz, Augsburg
1983
Abitur am Gymnasium Wertingen

Lehrtätigkeit

An der Charité für Studenten der Medizin, Biologie und Biochemie, z.B.:

Seminar Humangenetik
Vorlesung Biologie des Menschen
Praktikum Molekularbiologische Methoden in der Humangenetik

Mitgliedschaften

Publikationsliste

Neuere Publikationen siehe unter www.researchgate.net
Joachim Bürger oder
Center for penatal diagnosis and human genetics kudamm-199

1. Chronologisches Verzeichnis der schriftlichen Publikationen in referierten wissenschaftlichen Journalen mit Angabe des jeweiligen und kumulativen Impact-Factors

3. Vorträge und Podiumsdiskussionen (Auswahl)

Volleth M, Stumm M, Burger J, Muschke P, Wieacker P (2005)
Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.
Cytogenet Genome Res 108:283-286
2,076 193,6
Zoll B, Petersen L, Lange K, Gabriel P, Kiese-Himmel C, Rausch P, Buerger J, Pasche B, Meins M, Gross M, Berger R, Kruse E, Kunz J, Sperling K, Laccone F (2003)
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.
Hum Mutat 21:98
6,328 191,5
Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla-Scholz C, Baumer A, Burger J, Dworniczak B, Glaser D, Holinski-Feder E, Janssen B, Kleinle S, Kochhan L, Krasemann E, Kraus C, Kroisel P, Plendl H, Purmann S, Sander G, Skladny H, Spitzer E, Thamm-Mucke B, Varon-Mateeva R, Weinhausel A, Weirich H (2003)
Problems in detecting mosaic DNA methylation in Angelman syndrome.
Eur J Hum Genet 11:913-915
3,669 185,2
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L (2003)
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nat Genet 35:185-189
26,494 181,5
Bürger J, Horn D, Tönnies H, Neitzel H, Reis A (2002)
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.
Am J Med Genet 111:233-237
2,334 155,0
Brockmann K, Böhm R, Bürger J (2002)
Exceptional mild Angelman syndrome phenotype associated with an incomplete imprinting defect.
J Med Genet 39:e51
7,774 152,7
Cox GF*, Bürger J*, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B (2002)
Intracytoplasmic sperm injection may increase the risk of imprinting defects.
Am J Hum Genet 71:162-164
10,650 144,9
* gemeinsame Erstautoren
Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K (2001)
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
Eur J Hum Genet 9:519-526
3,173 134,2
Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh J R, Bürger J (2001)
A unique form of autosomal dominant cataract explained by gene conversion between ß-crystallin B2 and its pseudogene.
J Med Genet 38:392-396
5,098 131,0
Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A (2000)
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
Eur J Hum Genet 8:771-776
3,175 125,9
Buiting K, Dittrich B, Gross S, Lich C, Farber C, Buchholz T, Smith E, Reis A, Burger J, Nothen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Horsthemke B, et al (1998)
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Am J Hum Genet 63:170-80
10,869 122,7
von Moers A, van Landeghem FKH, Cohn R, Baumgarten E, Bürger J, Stoltenburg-Didinger G (1998)
Dystrophinopathy in Chediak-Higashi syndrome.
Neuromusc disord 8:489-494
2,582 111,8
Bürger J, Buiting K, Dittrich B, Groß S, Lich C, Sperling K, Horsthemke B, Reis A (1997)
Different mechanisms and recurrence risks of imprinting mutations in Angelman syndrome.
Am J Hum Genet 61:88-95
10,244 109,2
Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz.RA (1997) Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.
Hum Mol Genet 6:1087-1089
8,505 99,0
Bürger J, Kunze J, Sperling K, Reis A (1996)
Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.
Am J Med Genet 66:221-226
1,955 90,4
Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Bürger J, Spritz RA (1996)
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige (bg) locus.
Am J Hum Genet 59:620-624
9,366 88,5
Bürger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A (1996)
Autosomal dominant spastic paraplegia with anticipation maps to a 4 cM interval on chromosome 2p21-p24 in a large German family.
Hum Genet 98:371-375
2,455 79,1
The Cystic Fibrosis Genotype-Phenotype Consortium (1993)
Correlation between genotype and phenotype in patients with cystic fibrosis.
N Engl J Med 329:1308
23,762 76,7
Macek M Jr, Ladanyi L, Bürger J, Reis A (1992)
Missense Variations in the Cystic Fibrosis Gene: Heteroduplex Formation in the F508C Mutation.
Am J Hum Genet 51:1173
9,076 52,9
Reis A, Küster W, Linss G, Gebel E, Hamm H, Fuhrmann W, Wolff G, Groth W, Gustafson G, Kuklik M, Bürger J, Wegner RD, Neitzel H (1992).
Localisation of gene for the naevoid basal-cell carcinoma syndrome.
Lancet 339:617
15,94 43,8
Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, Bürger J, et al. (1992)
Cystic fibrosis patients bearing both the common missense mutation Gly-Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
Am J Hum Genet 51:245
9,076 27,9
Osborne L, Santis G, Schwarz M, Klinger K, Dörk T, McIntosh I, Schwartz M, Nunes V, Bürger J, et al. (1992)
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.
Hum Genet 89:653
2,877 18,8
Bürger J, Macek M Jr, Stuhrmann M, Reis A, Krawczak M, Schmidtke J (1991)
Genetic influences in the formation of nasal polyps.
Lancet 337:974
15,94 15,9

2. Schriftliche Publikationen in nicht referierten Journals und Buchkapitel

Chronologisches Verzeichnis der nicht referierten schriftlichen Publikationen

Bürger J and Regenauer A (2003)
Genetic engineering and the insurance industry - Life insurance and private health insurance.
FAIR review 129:33-51
Horsthemke B, Bartsch O, Bürger J, Buiting K, Gillessen-Kaesbach G, Janssen B (2001)
Leitlinien für die molekulare und cytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom.
Med Genet 13:71-73
Dörk T, Schlösser M, Bürger J, Hoffknecht N, Kälin N, Krawczak M, Macek M Jr, Reis A, Will K, Wulbrand U, Wulf B, Reiss J, Tümmler B, Schmidtke J, Stuhrmann M (1991)
Mutationsanalyse bei deutschen CF-Patienten.
Med Genetik 3:24

Darüber hinaus von 2002 bis 2008 ca. 50 Papers in deutschen und internationalen Journals für Versicherungsmedizin (z.B. Versicherungsmedizin, FAIR Review, On the Risk ohne strenge Peer-Review-Prozesse) und Eigenpublikationen der Munich Re Group.

Chronologisches Verzeichnis der Buchkapitel

Aceves E, Abildgaard C, Anderson I, Arantes-Oliveira N, Beretta I, Bureau J, Bürger J, et al. (Members of the Steering Committee) (2009)
The Bioeconomy to 2030 –Designing a Policy Agenda
OECD publishing, Paris.
Breyer F und Bürger J (2005)
Genetische Differenzierung in der Privatversicherung
In van den Daele W (Hrsg.) Biopolitik. VS Verlag für Sozialwissenschaften, Wiesbaden.
Lange K, Sperling K, Gross M, Bürger J (2001)
Prävalenz von GJB2 Gen (Connexin 26) Mutationen bei Hörstörung im Kindes- und Erwachsenenalter.
In: Gross M und Kruse E (Hrsg.) Aktuelle phoniatrisch-pädaudiologische Aspekte. Median-Verlag, Heidelberg.

3. Vorträge und Podiumsdiskussionen (Auswahl)

Bürger J (2008) Regulation of gene diagnostics and its impact on insurance markets in the age of personal genomics. Presented at the annual meeting of the German Association for Genetic Diagnostics, 10.-11.10.2008, Potsdam, Germany
Bürger J (2008) The shape of future healthcare systems, depending on gene and biotechnology developments interacting with ethical, legal and societal influences. Meeting of the steering group for the OECD Futures Project on the Bioeconomy to 2030. 7.-8.2.2008, Paris, France
Bürger J (2007) Analysis of the nature of information requested and of types of medical examinations carried out. Seminar on predictivity, genetic tests and insurance of the steering committee on bioethics (CDBI) of the Council of Europe. 3.-4.12.2007, Strasbourg, France
Bürger J (2007) Which predictive genetic tests are useful in insurance medicine. Presented at the International Congress of Insurance Medicine. 6.-9.5.2007, Berlin, Germany
Bürger J (2005) Medical evidence on rare diseases. Presented at the annual meeting of the Dutch association of medical consultants in insurance (GAV), 10.-11.11.2005, Ermelo, The Netherlands
Bürger J (2004) Gentests in der Medizin - Wem nutzt das neue Wissen? Arbeitskreis der Führungskräfte in der Wirtschaft, 13.5.2004, München, Germany
Bürger J (2003) Genetics and Gene Technology - A challenge for the Insurance Industry. Presented at the Congreso de Aseguradores Chileno. 9.-10.10.2003, Vina del Mar, Chile
Bürger J, Cox GF, Lip V, Mau UA, Sperling K, Horsthemke B, Wu BL (2002) Intracytoplasmic sperm injection (ICSI) may increase the risk for imprinting defects. medizinische genetik 14:264-265 presented at the annual meeting of the German, Austrian and Swiss Societies of Human Genetics, Leipzig, Germany
Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Metzke H, Hazan J, Reis A (2000) Hereditary spastic paraplegia is frequently caused by mutations in the spastin gene. medizinische genetik 12: presented at the annual meeting of the German, Austrian and Swiss Societies of Human Genetics, Lübeck, Germany
Bürger J, Wiebe V, Horn D, Tönnies H, Reis A (1999) Case of familial Angelman syndrome undetected by methylation tests. Medizinische Genetik 11:186 presented at the annual meeting of the French, German and Austrian Societies of Human Genetics, Nürnberg, Germany
Bürger J, Hennies HC, Sperling K, Reis A (1998) UBE3A gene expression in Angelman syndrome patients with imprinting defects. Medizinische Genetik 10:167 presented at the annual meeting of the German and Austrian Societies of Human Genetics, Jena, Germany
Bürger J, Buiting K, Dittrich B, Groß S, Lich C, Sperling K, Horsthemke B, Reis A (1997) Imprinting defects in Angelman syndrome are caused by different mechanisms. Presented at the autumn symposium of the British Society for Developmental Biology, September 4th-7th 1997, Cambridge, U.K.
Bürger J, Sperling K, Reis A (1996) Evidence for trans-acting factors in Angelman syndrome patients with imprinting mutations. Medizinische Genetik 8: 88 presented at the annual meeting of the German and Austrian Societies of Human Genetics, Göttingen, Germany
Bürger J, Reis A (1995) Severity of phenotype in patients with Angelman syndrome with imprinting mutations and with deletions of chromosome 15q11-13. Medizinische Genetik 7: 123 presented at the annual meeting of the European Society of Human Genetics, Berlin, Germany
Bürger J, Stuhrmann M, Macek M Jr, Reis A, Schmidtke J (1991) Genetic factors in the aetiology of nasal polyps. presented at the 3. annual meeting of the German Society of Human Genetics, 10.-13. April 1991, Ulm, Germany.