In May of 1999, I joined the Craniofacial and Skeletal Diseases Branch of the NIDCR, having spent the previous 3 1/2 years with the Medical Genetics Branch of the National Human Genome Research Institute. I completed my Ph.D. studies in 1991 with the Department of Biological Chemistry at UC Los Angeles. My postdoctoral fellowship was with the Division of Medical Genetics, Cedars-Sinai Medical Center in Los Angeles, CA. During my fellowship and continuing at the NHGRI, I studied the molecular and genetic basis of human skeletal dysplasias, especially the type II collagen disorders and the fibroblast growth factor receptor (FGFR) 3 disorders. Type II collagen is the predominant protein of cartilage, and mutations in the gene which encodes type II collagen can result in a spectrum of disease ranging from lethal disorders to the less severe Stickler syndrome. Kniest dysplasia is also included in this group of diseases, and we have demonstrated that a specific type of mutation results in this disorder. Mutations in the gene that encodes FGFR3 can also result in a spectrum of disease. Achondroplasia, the most common form of inherited dwarfism among humans, is due to a mutation in the FGFR3 gene.

Some of my more recent publications are listed below:

Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, and Eyre DR. Structurally
Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping
Mutation. J Biol Chem 273, 4761-4768, 1998.

Fernandes RJ, Wilkin DJ, Weis MA, Wilcox WR, Cohn DH, Rimoin DL, and Eyre DR. Incorporation of
Structurally Defective Type II Collagen into Cartilage Matrix in Kniest Chondrodysplasia. Arch
Biochem Biophys 355, 282-290, 1998.

Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A,
Sykes B, Bonaventure J, and Francomano CA. Fibroblast Growth Factor Receptor 3 (FGFR3)
Mutations in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived
Chromosome. Am J Hum Genet 63, 711-716, 1998.

Wilkin DJ, Mortier GR, Johnson CL, Jones MC, De Paepe A, Shohat M, Wilden RS, Falk RE, and Cohn
DH. Correlation of Linkage Data with Clinical Features in Eight Families with Stickler Syndrome. Am
J Med Genet 80, 121-127, 1998.

Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, McKusick VA, Stratakis C, Francomano CA, and
Cohn DH. Small Deletions in the Type II Collagen Triple Helix Produce Kniest Dysplasia. Am J Med
Genet, 85, 105-112, 1999.

Wilkin DJ and Francomano CA. Achondroplasia. Gene Clinics [http://www.geneclinics.org/
profiles/achondroplasia/], 1999.

Now an CSDB alumnus!

Douglas Wilkin, Ph.D.
Atherosclerosis Research Center
Division of Cardiology, Department of Medicine
Cedars-Sinai Medical Center
Davis Bldg., Room 1021
8700 Beverly Blvd.
Los Angeles, CA 90048
(310) 423-7619
wilkind@cshs.org