Gabriele Richard

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Thomas Jefferson University
Jefferson Medical College
Dermatology and Cutaneous Biology
Associate ProfessorAppointed: 2002
Thomas Jefferson University
Jefferson Medical College
Medicine
Genetics and Preventive Medicine
Associate ProfessorAppointed: 2002
Thomas Jefferson University
Thomas Jefferson University Hospital
Dermatology and Cutaneous Biology

Mailing Address

Thomas Jefferson University
233 S. 10th Street
BLSB Suite 409
Philadelphia, Pennsylvania 19107-5587
United States

Contact Information

Phone: (215) 503-1467
gabi@genedx.com

Qualifications

M.D., Erfurt Medical Academy, 1989.

Expertise and Research Interests

I am 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. My research interests lie in mapping and mutationanalysis of heritable skin disorders, particularly disorders of cornification. My 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.

My 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 my laboratory is focussed on the role of gap junctions in inherited disorders of the skin and its appendages. We study 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.

Certifications:
Graduate, Neuhaus a Rwg., Germany, 1977
Medical School, University of Leipzig, Germany, 1979
Diploma in Medicine, Erfurt Medical Academy, 1982
Approbation as a Physician, 1983
Medical School, Erfurt Medical Academy, Germany, Children's Hospital, 1983
Board Certification, Dermatology/Venerology, Germany, 1989
State Certification, Allergology, Germany, 1993
Diplomate of the American Board of Medical Genetics, Ph.D. Medical Geneticist, 1999




Future Research

Future research is focussed (a) on the role of gap junctional intercellular communication on homeostasis of the epidermis and other ectoderal epithelia, (b) identification of the molecular cause of different types of ichthyosis, erythrokeratodermias, naildisorders and ectodermal dysplasias, and (c) genotype-phenotype correlations in inherited skin disorders, in particular erythrokeratodermias, palmoplantr keratodermas, Netherton syndrome, Darier disease, and Hailey-Hailey disease.



Keywords

COS Keywords:

Dermatology, Gene Expression, Gene Mapping, Molecular Biology, Molecular Genetics, Skin Diseases.

Additional Terms:

Connexins, Darier Disease, 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

(Reading, Writing, Speaking)

English: (Fluent, Fluent, Fluent)
German: (Fluent, Fluent, Fluent)

Memberships

American Society of Human Genetics
German Society of Dermatology
Medical Advisory Board of F.I.R.S.T.
Society of Investigative Dermatology

Honors and Awards

1992, NIH Fogarty International Research Award,
1989, Prize for Young Scientists and Students, Erfurt Medical Academy

Previous Positions

1998-2002, Assistant Professor, Thomas Jefferson University, Dermatology and Cutaneous Biology
1998-2002, Assistant Professor, Thomas Jefferson University, Medicine, Genetics and Preventive Medicine
1996-1998, Ph.D. Fellowship, NIH, Medical Genetics
1993-1998, Research Fellow, NIAMS, Laboratory of Skin Biology, Genetic Studies Section
1983-1989, Internship and Residency, Erfurt Medical Academy, Dermatology

Funding Received

  • National Institutes of Health: NIH Fogarty International Research Award, Oct 1, 1995 to Aug 31, 1998.
  • National Institutes of Health (NIH): Mentored Clinical Scientist Career Development Award (K08), Mar 6, 2000 to Feb 28, 2005.
  • F.I.R.S.T./Dermatology Foundation: Research award: Clinical and Genetic Studies of Netherton Syndrome, A Congenital Recessive Ichthyosis, $10,000, Jul 1, 1999 to Jun 30, 2000.
  • National Alopecia Areata Foundation: Research award 'Clinical and Genetic Studies of Netherton Syndrome, A Congenital Recessive Ichthyosis Associated with Hair Shaft Anomalies and Immune Deficiency', $20,000, Jul 1, 1999 to Jun 30, 2000.
  • American Skin Association: Research grant 'Genetic Studies of Netherton Syndrome, a Congenital Recessive Ichthyosis associated with Hair Anomalies and Immune Deficiency', $15,000, Jan 1, 2000 to Dec 31, 2000.
  • National Institutes of Health (NIH): Small Project Award (R03) 'Clinical and Genetic Studies of Netherton Syndrome', $150,000, Aug 1, 2000 to Jul 31, 2003.
  • National Ectodermal Dysplasia Foundation: Is Keratitis-Ichthyosis-Deafness Syndrome an Ectodermal Dysplasia Caused by Connexin Defects?, $20,000, 07/01/02 to 06/30/03.

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, August 2003 Abstract
  • Richard G, Connexin gene pathology, Clinical and Experimental Dermatology, 28(4), 397-409, July 2003 Abstract
  • Itin PH, Moschopulos M, Richard G, Reticular erythrokeratoderma: A new disorder of cornification, American Journal of Medical Genetics, 120A(2), 237-40, July 2003 Abstract
  • 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, April 2003 Abstract
  • 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, April 2003 Abstract
  • 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, April 2003 Abstract
  • 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, March 2003 Abstract
  • 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, January 2003 Abstract
  • 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, November 2002 Abstract
  • 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, September 2002 Abstract
  • 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 Abstract
  • 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 Abstract
  • 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, April 2002 Abstract
  • 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, February 2001 Abstract
  • 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, April 2000 Abstract
  • Richard G, Connexins: a connection with the skin, Experimental Dermatology, 9(2), 77-96, April 2000 Abstract
  • 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, February 2000 Abstract
  • 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, February 2000 Abstract
  • 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, December 1998 Abstract
  • 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, October 1998 Abstract
  • Richard G, Oosterwijk JC, Keratosis follicularis spinulosa decalvans, Hautarzt, 49(1), 61-2, Jan 1998 Abstract
  • 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, November 1997 Abstract
  • 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, October 1997 Abstract
  • 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, December 1996 Abstract
  • Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G, Trichorhinophalangeal syndrome type III, Dermatology, 193(4), 349-52, 1996 Abstract
  • 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, December 1995 Abstract
  • 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, September 1995 Abstract
  • 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, November 1994 Abstract
  • Harth W, Richard G, Retinoids in therapy of granuloma anulare disseminatum, Hautarzt, 44(11), 693-8, November 1993 Abstract
  • Richard G, Harth W, Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage, Hautarzt, 44(8), 529-34, August 1993 Abstract
  • 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, June 1993 Abstract
  • 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 Abstract
  • Richard G, Linse R, Hadlich J, Schubert H, Genetics of Hailey-Hailey familial chronic benign pemphigus, Dermatologische Monatsschrift, 176(11), 673-81, 1990 Abstract
  • 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

Profile Details

Last Updated: 3/14/2006

COS Expertise ID #941870
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