William J. Brunken, PhD, Professor in the Department of Ophthalmology and Director of the Center for Vision Research, has been elected to serve on the Association of University Professors of Ophthalmology's Research Director's Council for five years.
Dr. William J. Brunken was named the Vice Chair of the Department of Ophthalmology.
Dr. Calvert's lab is studying how the cilia on photoreceptors, small organelles that contain important signaling machinery, regulate molecular movement and localization and how genetic mutations that interrupt these processes lead to blinding diseases.
Over the last decade hundreds of genetic mutations that lead to devastating, multiple organ diseases, including those causing blindness, deafness, cancer, kidney disease, obesity, mental retardation and many others, have been attributed to genes that are responsible for the construction, maintenance and signaling of cilia. Together, these diseases are known as ciliopathies.
Like many cells in the body, photoreceptors in the eye possess cilia. Photoreceptors begin the transformation of light into the electrical activity in the brain that is vision within their cilia. Dr. Calvert's lab uses sophisticated microscopy techniques and mathematical models to understand how cilia work, and what goes wrong in ciliopathic diseases.
"Understanding how cells and cilia regulate the movement of molecules is of paramount importance for finding therapies and cures for the debilitating and life-threatening ciliopathic diseases", says Dr. Calvert.
Why is this research important?
Hundreds of mutations in genes important for ciliary construction and functions lead to diseases that impact multiple organs. A particularly devastating example is
Bardet-Biedl
syndrome
, where affected individuals lose their vision through a form of retinitis pigmentosa and may become obese, be mentally retarded, have extra digits at birth and have renal failure. Another example is
Usher syndrome
, which is characterized by deafness followed by slow loss of vision.
moreLeber congenital amaurosis
, a disease that
causes severe vision loss at or soon after birth and central nervous system deficits that cause developmental delay, seizures, and motor skill impairment in some patients, also results from mutations in genes thought to be important for normal cilia function. Many forms of
Retinitis pigmentosa
result from mutations in ciliary proteins that also cause patients to suffer loss of hearing, mental retardation and birth defects.
Studying how cilia are constructed and maintained in normal cells and how mutations in genes cause them to malfunction is essential to finding therapies and cures for these blinding and multiple organ diseases.
To date, many of the genes responsible for the numerous types of RP have been located and their specific defects identified. Though scientists have some understanding about which cells are associated with RP, a significant barrier still exists in developing therapies to safely introduce genetic material into affected eye cells. More studies are needed to create transplant techniques to assist in regrowth and replacement of affected cells.
More than 1.75 million in the United States suffer from AMD related vision loss, seriously impacting their ability to participate in activities important to daily life such as reading and driving.
Owing to the rapid aging of the U.S. population, this number is expected to increase to almost 3 million by 2020.
Early detection and diagnosis can help to minimize the impact of AMD, in part through awareness of factors linked to onset, including age, race, smoking, and family history.
Though promising research is being conducted to uncover the origins of AMD, further work is critical to develop a better understanding of the causes and treatments for this serious optic disease.
Ciliopathies result in:
Loss of vision, either at birth or slowly over a person’s lifetime.
Loss of hearing.
Birth defects of the eyes and other parts of the body.
more
Mental deficits, either mild or more severe.
Seizure disorders or epilepsy.
Obesity.
Cancer.
Night blindness, one of the earliest and most frequent symptoms of RP
Loss of peripheral vision, or tunnel vision
Loss of central vision
What are Ciliopathies?
Ciliopathies are diseases that result from mutations in genes that cause cilia to malfunction. Cilia are small organelles that are found on most cells in the body. Most cilia are very thin, hair-like projections from the surface of cells and are thought to act as antennas that sense the cell's environment.
more
Mutations in genes that are involved in the construction, maintenance and transport of molecules to, from and within cilia can cause the cells to die, leading to tissue degeneration as is found in retinitis pigmentosa, or to abnormally divide, leading to some types of cancer.
Contact Carol Miller with questions about the content of this page.
