Abstract
DATE: |
May 28, 2009 |
TIME: |
1:15 - 3:00 pm |
LOCATION: |
Center for Clinical Sciences Research (CCSR), Rm 4205 |
TITLE: |
Genetics of Sleep and Sleep Disorders |
SPEAKER: |
Emmanuel Mignot, MD, PhD |
The complexity of sleep as a phenotype is matched by the complexity of sleep disorders. In our center, we have taken a two prone approach. In the first, individual sleep disorders are looked upon pathophysiologically or using genome wide association studies. This first approach is most likely to be successful in areas where disease etiology is more likely homogeneous, or when the disease-associated physiology is simple. A typical example of this approach is in the area of narcolepsy, where, together with UCSF, we recently found a novel narcolepsy-associated loci, the T-cell receptor alpha, strongly suggesting an autoimmune basis for the disorder. Other diseases of interest include Restless Leg syndrome and Kleine Levin syndrome. In a second approach, we are looking at sleep endophenotypes that could be meaningful for neuropsychiatric or sleep disorders. For example, we are currently working intensively on the genetic of the EEG and associated polysomnographic signals in a population-based sample, and studying brain reactivity to hypoxia and hypercapania, an area of importance for COPD and sleep apnea.
Internal Staff Login