Researcher Granted NIH Funding to Study Skeletal Development and Intellectual Disability

Learning more about a genetic mutation that causes intellectual disability (ID) is the goal behind a research project recently funded for a Northeast Ohio Medical University scientist.

The National Institute of Arthritis and Musculoskeletal and Skin Diseases (one of the National Institutes of Health) has awarded Fayez Safadi, Ph.D., funding in the amount of $365,035 per year for five years to support a research project titled “The Role of TRAPPC9 in Osteoclast Differentiation and Function.”

Dr. Safadi is conducting the research in collaboration with scientists from Washington University School of Medicine.

Intellectual disability (formerly called retardation) is a serious disorder that occurs in 3% of the general population, explains Dr. Safadi, who is a professor in the Department of Anatomy and Neurobiology and director of the Musculoskeletal Research Group at NEOMED, as well as a senior scientist at Akron Children’s Hospital in Ohio. Patients with ID have a peculiar facial appearance and brain abnormalities, as well as abnormalities in skeletal development.

The genetic mutation that causes ID is more common among people who marry closely within their families, Dr. Safadi said.

Seeking clues to a genetic mutation

Delving deeper into the science behind this project, Dr. Safadi notes that recent studies have identified mutations in the trafficking protein particle complex (TRAPPC9) gene. (The term “trafficking” is used because this protein helps other molecules travel within a cell for better physiological function.) It is this mutation that leads to the abnormalities in the brain and skeletal development that present themselves as intellectual disabilities.

Clinical findings so far have highlighted the importance of TRAPPC9 in neurogenesis. However, this gene’s precise role in normal skeletal development is not yet known – and that is the area that Dr. Safadi and his team will explore.

“In our research, we will utilize genetic, pharmacologic, cellular and molecular approaches to study the role of TRAPPC9 in the normal physiological function of bone,” says Dr. Safadi.

Our goal is to generate new clues to enhance our knowledge of TRAPPC9 function in bone cells – paving the way for the development of therapies for diseases of bone loss and skeletal abnormalities associated with neurological diseases.”