Ian Glass, M.D.

Associate Professor of Pediatrics Clinic
Chief, Medical Genetics, Children's Hospital & Regional Medical Center
Co-director, Alaska Birth Defects and Genetics Clinic
Research Affiliate, Center on Human Development and Disability
ian.glass@@seattlechildrens.org
206-527-3948
University of Washington
Box 359300, CH-25
Seattle, WA 98195-9300


Dr. Glass' research focus is the molecular and developmental basis of inherited neurological disease, including candidate genes for Joubert syndrome and other posterior fossa malformations. A native of New Zealand, he holds an M.D. from the University of Otago Medical School and completed post-graduate training in pediatrics and genetics at Mt. Sinai School of Medicine, the University of California San Francisco, Birmingham (U.K.) Maternity Hospital, and Royal Hospital for Sick Children, Glasgow.

What is Joubert Syndrome?
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), jerky eye movements, mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes, cleft lip or palate, and tongue abnormalities. Seizures may also occur. Most cases of Joubert syndrome are sporadic (in other words, no other family member has the disorder), but in some families, Joubert syndrome appears to be inherited via a recessive gene.

Is there any treatment?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored

What is the prognosis?
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is entirely absent or partially developed. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

What research is being done?
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in the summer of 2002. Research priorities for the disorder were outlined at this meeting. For more information please refer to the website listed below.