The Consult Service Staff consists of myself, Dr. John DiGiovanna, and a Nurse Practitioner, Olanda Hathaway, who joined the Branch in 2011. As mentioned above, providing clinical expertise in the assessment and management of the cutaneous disease is a highly valued service to the NIH community which was recognized by the NIH Director's Award in 2007. In addition to seeing patients in Consultation, I am an Associate Investigator on several other protocols initiated by other branches as well as a Principal Investigator on three therapeutic protocols (to be discussed separately). The current non-Dermatology Branch protocols in which I am an Associate Investigator include Natural History of GVHD; Reduced intensity transplants for malignant lymphomas/leukemias; Immune-depleting therapy and reduced intensity transplant using unrelated donors; Allogeneic transplant for DOCK8 Immunodeficiency; Pomalidomide for chronic GVHD; Phase II Montelukast for bronchiolitis obliterans; Erlotinib and bevacizumab for renal cell carcinoma; Natural history of auto-inflammatory diseases; Anakinra for Behcet's disease; Rilonacept for deficiency of the IL-1 antagonist. The chronic graft versus host disease (GVHD) collaborative effort is a major multidisciplinary collaboration with several NCI and non-NCI investigators studying the Natural history of GVHD. Based on my experience with this group, I have published several text chapters and clinical manuscripts on cutaneous GVHD and have been honored to lecture to various groups around the country (Harvard, Tufts, U. of Pennsylvania, the American Academy of Dermatology, regional dermatologic societies, and the World Congress of Dermatology.) Collaborative clinical research is extremely active via the busy consultation service. The newly discovered mutations in pyrin genes in patients with several periodic fever syndromes, and the availability of biologic therapies that have efficacy in the resulting autoinflammatory diseases have introduced a new group of patients to the clinic. We are now systematically characterizing cutaneous manifestations and assessing responses to treatment in patients with PAPA syndrome, Behcets and deficiency of IL-1 receptor antagonist (DIRA). I am currently Principal Investigator on two open therapeutic protocols: imatinib mesylate (08-C-0148) for the treatment of sclerotic chronic GVHD (data analysis only), and anakinra for neutrophilic pustular skin disease (13-C-0071; recruiting).

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Clinical Support Services Intramural Research (ZID)
Project #
1ZIDBC011317-08
Application #
9556877
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
8
Fiscal Year
2017
Total Cost
Indirect Cost
Name
Basic Sciences
Department
Type
DUNS #
City
State
Country
Zip Code
Kang, Heeseog; Jha, Smita; Deng, Zuoming et al. (2018) Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun 9:1390
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Cowen, Edward W; Pichard, Dominique C; Garabedian, Elizabeth et al. (2016) Medallion-Like Dermal Dendrocytic Hamartoma, Dermatofibrosarcoma Protuberans, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency. Pediatr Dermatol 33:359-60

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