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Thomas Jefferson University - Gabriele Richard
Gabriele Richard

Dermatology and Cutaneous Biology
Thomas Jefferson University
Jefferson Medical College
Department of Dermatology & Cutaneous Biology
Associate Professor Appointed: 2002

Thomas Jefferson University
Jefferson Medical College
Department of Medicine
Division of Genetics and Preventive Medicine
Associate Professor Appointed: 2002

Mailing Address
Thomas Jefferson University
Philadelphia, Pennsylvania 19107
United States
Contact Information
Phone: (215) 503-1467
Gabriele.Richard@jefferson.edu
Qualifications
Dipl.Med., Erfurt Medical Academy, Germany 1982

M.D., Erfurt Medical Academy, Germany, 1989

State Certification: Allergology, Germany, 1993

Diplomate of the American Board of Medical Genetics, Ph.D. Medical Geneticist, 1999

Expertise and Research Interests
Dr. Richard is a dermatologist trained in Germany and a Ph.D. Medical Geneticist, certified by the American Board of Medical Genetics, who has extensive experience in molecular genetics of inherited skin disorders. Her research interests lie in mapping and mutation analysis of heritable skin disorders, particularly disorders of cornification. Her research is directed toward an understanding of the normal and abnormal differentiation of the epidermis, the causes of the diseases on a molecular and cellular level, and ultimately, the development of new treatments. The discoveries made in one disorder can shed light on many other related disorders, and accelerate our knowledge of the biology of the skin.

Dr. Richard's expertise includes selection and ascertainment of appropriate study participants, broad application of various analytical methods for gene mapping, including parametric and non-parametric linkage analysis, haplotype analysis and association studies, as well as a vast collection of molecular genetic methods and techniques for positional cloning, mutation analysis, genotype analysis, and gene expression.

In addition, the research of her laboratory is focussed on the role of gap junctions in inherited disorders of the skin and its appendages. The laboratory studies the expression of different gap junction proteins in these tissues, express wildtype and mutant gap junction proteins in vitro and determine their function using dye transfer techniques and intracellular calcium measurements.
Other Expertise

Clinical studies of inherited skin disorders;
Genetic linkage mapping and molecular genetic analyses of inherited skin disorders;
Structure and function of epidermal connexins.
Keywords
Connexins; Darier Disease; Dermatology; Ectodermal Dysplasia; Erythrokeratodermia; Gap Junctions; Genodermatoses; Hailey-Hailey Disease; Ichthyosis; Linkage Analysis; Molecular Genetics Of Inherited Skin Disorders; Mutation Analysis; Netherton Syndrome; Palmoplantar Keratoderma
Languages
English, German
Publications
  • Lagree V, Brunschwig K, Lopez P, Gilula NB, Richard G, Falk MM. Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43. Journal of Cell Science. 116(Pt 15): 3189-201, Aug 2003

  • Richard G. Connexin gene pathology. Clinical and Experimental Dermatology. 28(4): 397-409, Jul 2003

  • Itin PH, Moschopulos M, Richard G. Reticular erythrokeratoderma: A new disorder of cornification. American Journal of Medical Genetics. 120A(2): 237-40, Jul 2003

  • Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Journal of Investigative Dermatology. 120(4): 601-9, Apr 2003

  • Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. Journal of Investigative Dermatology. 120(4): 623-6, Apr 2003

  • Rouan F, Lo CW, Fertala A, Wahl M, Jost M, Rodeck U, Uitto J, Richard G. Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. Experimental Dermatology. 12(2): 191-7, Apr 2003

  • Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H. In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. Journal of Investigative Dermatology. 120(3): 498-500, Mar 2003

  • Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW. A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Kobner. Clinical and Experimental Dermatology. 28(1): 77-9, Jan 2003

  • Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. Journal of Investigative Dermatology. 119(5): 1210-3, Nov 2002

  • Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. Journal of Investigative Dermatology. 119(3): 692-8, Sep 2002

  • Diestel S, Richard G, Doring B, Traub O. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Biochemical and Biophysical Research Communications. 296(3): 721-8, Aug 2002

  • Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. American Journal of Human Genetics. 70(5): 1341-8, May 2002

  • Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. Journal of the American Academy of Dermatology. 46(4): 510-6, Apr 2002

  • Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Experimental Dermatology. 10(1): 19-27, Feb 2001

  • Eli Sprecher, Akemi Ishida-Yamamoto, Oren Becker, Chris Miller, Peter M. Steinert, Kenneth Neldner, and Gabriele Richard. Evidence for function of the variable keratin tail domain emerging from a mutation causing Ichthyosis Hystrix Curth-Macklin. Journal of Investigative Dermatology. 116, 2001

  • Sprecher E, Bale SJ, DiGiovanna JJ, Uitto J, Richard G. Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus [letter]. Journal of Investigative Dermatology. 114(4): 741-2, Apr 2000

  • Richard G. Connexins: a connection with the skin. Experimental Dermatology. 9(2): 77-96, Apr 2000

  • Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. European Journal of Human Genetics. 8(2): 141-4, Feb 2000

  • Rouan F, Pulkkinen L, Meneguzzi G, Laforgia S, Hyde P, Kim DU, Richard G, Uitto J. Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. Journal of Investigative Dermatology. 114(2): 381-7, Feb 2000

  • G. Richard, N. Brown, LE. Smith, A. Torrini, G. Melino, RM. MacKie, S. J. Bale, J. Uitto. The spectrum of mutations in erythrokeratodermias - Novel and de novo mutations in GJB3. Human Genetics. 106: 321-329, 2000

  • G. Richard. Erythrokeratodermia variabilis. In: e-Medicine: Dermatology (Medical Textbooks for Health Professionals), ed. William James, eMedicine.com, Inc. , 2000

  • Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nature Genetics. 20(4): 366-9, Dec 1998

  • Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Human Genetics. 103(4): 393-9, Oct 1998

  • Richard G, Oosterwijk JC. Keratosis follicularis spinulosa decalvans. Hautarzt. 49(1): 61-2, Jan 1998

  • Richard G, Lin JP, Smith L, Whyte YM, Itin P, Wollina U, Epstein E Jr, Hohl D, Giroux JM, Charnas L, Bale SJ, DiGiovanna JJ. Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes. Journal of Investigative Dermatology. 109(5): 666-71, Nov 1997

  • Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ. Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. Human Genetics. 100(5-6): 520-4, Oct 1997

  • S. Mostaccioli, V. De Laurenzi, A. Terrinoni, G. Richard, B. Didona, R. Cavalieri, G. Melino. White sponge nevus is caused by mutations in mucosal keratins. European Journal of Dermatology. 7(6): 405-408, 1997

  • Richard G, Itin P, Lin JP, Bon A, Bale SJ. Evidence for genetic heterogeneity in monilethrix. Journal of Investigative Dermatology. 107(6): 812-4, Dec 1996

  • Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G. Trichorhinophalangeal syndrome type III. Dermatology. 193(4): 349-52, 1996

  • Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG. Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. Nature Genetics. 11(4): 453-5, Dec 1995

  • Richard G, Korge BP, Wright AR, Mazzanti C, Harth W, Annicchiarico-Petruzzelli M, Compton JG, Bale SJ. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. Journal of Investigative Dermatology. 105(3): 357-60, Sep 1995

  • Richard G, Wright AR, Harris S, Doyle SZ, Korge B, Mazzanti C, Tanaka T, Harth W, McBride OW, Compton JG, et al. Fine mapping of the Darier's disease locus on chromosome 12q. Journal of Investigative Dermatology. 103(5): 665-8, Nov 1994

  • Harth W, Richard G. Retinoids in therapy of granuloma anulare disseminatum. Hautarzt. 44(11): 693-8, Nov 1993

  • Richard G, Harth W. Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage. Hautarzt. 44(8): 529-34, Aug 1993

  • Richard G, Linse R, Harth W. Hailey-Hailey disease. Early detection of heterozygotes by an ultraviolet provocation tests--clinical relevance of the method. Hautarzt. 44(6): 376-9, Jun 1993

  • Harth, W., Richard, G., Schubert, H. Therapy of aggressive necrobiosis lipoidica diabeticorum disseminata with Etretinat. Z Hautkr. 67: 605-612, 1992

  • Harth, W., Richard, G., Schubert, H. Keratosis follicularis spinulosa decalvans : The full-blown phenotype in a carrier female. Z Hautkr. 67: 1080-1084, 1992

  • Linse, R. and Richard, G. Histology of UV-induced epidermal reactions: II. Development of an UV-provocative test to recognize genotypic carriers of Familial Benign Chronic Pemphigus (HAILEY - HAILEY). Dermatol. Mon.schr. 177: 189-193, 1991

  • Richard, G. and Rößner, M. Results of HLA typing in Familial Benign Chronic Pemphigus (HAILEY - HAILEY). Dermatol. Mon.schr. 177: 233 - 237, 1991

  • Linse R, Richard G. Histology of UV-induced epidermis reactions. 1. A contribution to the differentiation of sunburn cells. Dermatologische Monatsschrift. 176(5-6): 345-8, 1990

  • Richard G, Linse R, Hadlich J, Schubert H. Genetics of Hailey-Hailey familial chronic benign pemphigus. Dermatologische Monatsschrift. 176(11): 673-81, 1990

  • Richard, G. Genetics of Familial Benign Chronic Pemphigus HAILEY-HAILEY. Dissertation, Erfurt Medical Academy. , 1989

  • Richard, G. Comparative studies of neonatal arterial vs. capillary oxygen concentrations by increasing oxygen concentration of the air. Graduate Dissertation, Erfurt. , 1982
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Last Updated : Tuesday, October 5, 2004 10:10:02 AM


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