Andrew Liu
University of Florida, FL·Neuroscience
Sleep problems are among the hardest symptoms for patients with some rare brain disorders and for their caregivers. Smith-Kingsmore Syndrome (SKS) is a newly discovered genetic disorder caused by mutations in MTOR (mechanistic target of rapamycin).
- Fields
Neuroscience
Genetics
Medicine & Clinical Research
- Topics
Smith-Kingsmore Syndrome
mechanistic target of rapamycin
circadian rhythms
- Grants
- 1 known grant, through Dec 2027
What they work on
- Generate cellular and mouse models carrying pathogenic Smith-Kingsmore Syndrome variants of MTOR, a gene that links cell growth to energy levels, and measure how each variant changes MTOR activity.
- Test whether chronic MTOR activation in SKS models disrupts circadian rhythms, sleep/wake balance, and other behavioral and cognitive functions.
- Explore low-dose rapamycin regimens tailored to specific MTOR alleles and test whether normalizing MTOR activity restores sleep/wake patterns and improves other functions.
- Evaluate sleep/wake behavior as a brain-function biomarker for guiding rapamycin dosing and tracking MTOR activity in the central nervous system.
More about the research
MTOR is a gene whose protein matches a cell's growth to its energy supply. Patients with SKS can have an enlarged head, epilepsy, intellectual disability, autism and developmental delay. The team's earlier studies found that SKS also involves disrupted sleep and wake cycles, overeating, hyperactivity and self-aggression. These signs point to an imbalance in the hypothalamus, a brain region that regulates basic body functions.
Why it matters
The work could guide precision treatment for children and adults with Smith-Kingsmore Syndrome, using low doses of rapamycin tuned to each patient's mutation. Sleep and wake patterns might become a practical readout for adjusting the dose. The findings may also apply to related MTOR disorders such as tuberous sclerosis complex, which causes epilepsy and autism.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Jessica Hargarten
Rutgers University-New Brunswick, NJ·Microbiology & Immunology·Early-career
Characterize how deficiency in MTOR, the signaling enzyme that senses nutrients and controls immune cell growth and metabolism, affects susceptibility to Cryptococcus infection using established murine models of pulmonary and central nervous system cryptococcosis.
Ravi Allada
University of Michigan, MI·Neuroscience
Map sleep- and wake-dependent changes in gene activity in the Drosophila brain at single-cell resolution, using single-cell RNA sequencing to find the cells and genes that track sleep need.
Brant Hasler
University of Pittsburgh, PA·Psychology·Early-career
Test how regular cannabis use and four weeks of abstinence change homeostatic sleep drive in 18-25-year-olds, using at-home sleep EEG headbands on nights with and without cannabis.
The school
University of Florida: 65 labs on PI Pages, $1.3B a year on research, 795 research doctorates a year.
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