Center for the Study of Genetic Skeletal Disorders
Research Focus Areas
The Center for the Study of Genetic Skeletal Disorders has its origins in the patients and families that Dr. Warman and his colleagues have come to know through their clinical work. Many are affected with rare, heritable, diseases that affect bones and/or joints. Others have more common skeletal diseases, such as scoliosis, arthritis, osteoporosis, and fracture, for which a genetic contribution is suspected.
The Center's research follows a bedside to bench to bedside" approach, meaning that
- Patients affected by skeletal disease generate important questions about how the human skeleton grows and maintains itself.
- Patients and their families volunteer to participate in research to help address these questions.
- Laboratory research using DNA, cultured cells, purified proteins, and other organisms is performed to better understand the biologic pathways that are disrupted by specific human skeletal diseases.
- Knowledge gained from these complementary approaches is applied to patients with the goal of preventing skeletal disease or delaying a disease's progression.
The Center actively studies several human skeletal diseases. Additional skeletal diseases are studied at other institutions with which the Center collaborates.
Please select from any of the following links to learn more about our current and prior research.
Ongoing skeletal disease projects
- Acromesomelic Dysplasia (Maroteaux Type) (AMDM)
- Brachydactyly, Symphalangism, and Synostoses
- Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP)
- Cerebrocostomandibular Syndrome
- Unexplained fractures during childhood
- Osteoporosis-Pseudoglioma Syndrome (OPPG)
- Progressive Pseudorheumatoid Dysplasia (PPD)