Functional Studies for Skeletal Abnormalities in RASopathies (H-38088)

RASopathy patients needed for a research study. Dr. Florent Elefteriou and researchers at Baylor College of Medicine want to create a specimen (blood, tissue and urine) repository devoted to the study of RASopathies. RASopathy syndromes include: cardiofaciocutaneous (CFC), Costello (CS), LEOPARD/NSML, neurofibromatosis type 1 (NF1), and Noonan (NS). This material will be stored and used to perform detailed genomic, biochemical and functional assays in tissues of relevance (e.g., bone and neurofibroma from individuals with NF1). The goal is to better understand the skeletal manifestations in these disorders.

Eligibility. To be eligible to participate in the study, the patient must have a well-documented diagnosis of one of the RASopathy disorders based on clinical or molecular features.

Referrals. For referral of patients that meet eligibility criteria, please contact:

Mahshid Azamian, M.D., MPH
(832) 822-1529
azamian@bcm.edu

Sha’Tia Safford, MPH, BA
(832) 822-3221
snsaffor@texaschildrens.org