William Wilcox, MD, PhD Director, Skeletal Dysplasia Morphology Laboratory
Email: bill.wilcox@cshs.org Phone: 310-423-6451 Fax: (310) 423-0620

Academic Appointments

Professor, Pediatrics

Awards and Activities

American Society of Human Genetics	1991
American Academy of Pediatrics	1991
American College of Medical Genetics	1993
The Society for the Study of Inborn Errors of Metabolism	1994
International Skeletal Dysplasia Society	1995
Society of Inherited Metabolic Disorders	1997
Society for Pediatric Research	2004
American Society for Cell Biology	2007

Research Focus

Current research includes treatments for lysosomal storage diseases, particularly Fabry disease; the morphology, genetics, and pathophysiology of human dwarfing conditions (skeletal dysplasias); treatment of achondroplasia; FGF signaling in chondrocytes compared to normal and cancerous cells; and identification of the genetic defects in the Marinesco-Sjögren syndrome.

Research Contributions

Key investigator in the clinical trials of enzyme replacement therapy for Fabry disease leading to approval. Helped define the broad clinical involvement of Fabry disease in females and developed monitoring and treatment guidelines. Defined several skeletal dysplasias at the clinical, morphological, and molecular level. Substantially altered the paradigm of FGFR3 signaling, defining novel components and regulation and identifying cross-talk with other signaling systems.

Current investigations include:

Studying different skeletal dysplasias from a clinical, morphological, and molecular perspective. Dissecting FGFR3 signaling in chondrocytes and multiple myeloma cells. Testing analogues of CNP for the treatment of achondroplasia. Looking for the other genes that cause the Marinesco-Sjogren syndrome. Studying oral chaperone therapy for the treatment of Fabry disease.

Selected Publications

1. Krejci P, Salazar L, Goodridge HS, Kashiwada TA, Schibler MJ, Jelinkova P, Thompson LM, Wilcox WR: STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes. J. Cell. Sci., 121(Pt 3): 272-81, 2008
2. Krejci P, Pejchalova K, Rosenbloom BE, Rosenfelt FP, Tran EL, Laurell H, Wilcox WR: The antiapoptotic protein Api5 and its partner, high molecular weight FGF2, are up-regulated in B cell chronic lymphoid leukemia. J. Leukoc. Biol., 82(6): 1363-4, 2007
3. Wang RY, Lelis A, Mirocha J, Wilcox WR: Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med., 9(1): 34-45, 2007
4. Krejci P, Masri B, Salazar L, Farrington-Rock C, Prats H, Thompson LM, Wilcox WR: Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins. J. Biol. Chem., 282(5): 2929-36, 2006
5. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR: Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatr. Res., , 2008
6. Krejci P, Mekikian PB, Wilcox WR: The fibroblast growth factors in multiple myeloma. Leukemia, 20(6): 1165-8, 2006