Skeletal Genomics

National Human Genome Research Institute

Investigators

Linked publications, trials & patents

Abstract

Our group has continued to focus on the clinical characterization of patients with rare skeletal dysplasias. In the past year, we characterized the hearing loss in ENPP1 deficiency and found its origin in involvement of the middle ear ossicles (reference 1); contributed about 20% of all variants known in ENPP1 through molecular characterization of our natural history cohort (reference 2); and estimated the prevalence of the disease using population databases (reference 3). I also updated the GeneReviews chapter on this disorder. In addition, I collaborated with several investigators to: review the genetic etiologies of fetal vertebral anomalies (reference 4); establish FGF23 cut-off values to assist in the evaluation and diagnosis of hypophosphatemic rickets/osteomalacia (reference 5); and was part of a group of twenty world experts in the field of skeletal dysplasias that recently updated the official nosology or classification of genetic skeletal disorders (reference 6). We have continued to develop an animal model of osteoglophonic dysplasia, a rare disorder characterized by short stature, bone lesions, and increased secretion of a hormone, FGF23, an important regulator of phosphorus levels. Lastly, we continue to use of genomic technologies to discover and validate new gene-disease associations.