Anca Pasca
Stanford University, CA·Neuroscience
Losing a small piece of chromosome 22, a condition called 22q11.2 deletion syndrome (22q11.2 DS), raises a person's risk of psychosis about 20-fold. Brain scans of people with the syndrome show abnormal communication within the cerebral cortex, the brain's outer layer.
- Fields
Neuroscience
Genetics
Biochemistry
- Topics
22q11.2 deletion syndrome
22q11.2 DS
DiGeorge syndrome region
- Grants
- 1 known grant, last ended Oct 2026
What they work on
- Identify when mitochondrial defects first appear during cortical development in 22q11.2 deletion syndrome, using advanced microscopy and functional assays in human cortical spheroids (hCS) and in forebrain sections from a mouse model.
- Assess metabolic changes during cortical development in 22q11.2 deletion syndrome using untargeted metabolomics, a broad survey of cellular small molecules, and cell type-specific metabolic profiles in hCS and mouse forebrain, and compare the two species.
- Test whether drugs that enhance mitochondrial function, namely nicotinamide riboside, resveratrol and bezafibrate, rescue metabolic and neuronal defects in 22q11.2 deletion cortical models, to pinpoint metabolic pathways for drug discovery.
More about the research
The deleted region contains 9 genes involved in mitochondrial energy production. Mitochondria are the cell's power plants. Earlier studies of patient-derived neurons point to mitochondrial defects and overactive neurons. However, no one yet knows how energy metabolism goes wrong as the human cortex develops.
Why it matters
22q11.2 deletion syndrome is the most commonly diagnosed microdeletion and is strongly linked to psychosis and other neuropsychiatric disease. Pinpointing when and how energy metabolism fails in the developing human cortex could reveal metabolic pathways to target with drugs. Testing existing mitochondria-boosting compounds could point toward treatments. The human assays built here could also help study other genetic or environmentally caused metabolic brain disorders.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Raquel Gur
University of Pennsylvania, PA·Medicine & Clinical Research
Track psychiatric symptoms and neurocognition over time in about 300 adolescents and young adults with 22q11.2 deletion syndrome, using dimensional measures with a focus on the emergence of psychosis.
Jennifer Mulle
Rutgers University-New Brunswick, NJ·Genetics
Characterize the full range of traits, sex-dependent risks and co-occurring conditions in 200 new individuals with 3q29 deletion syndrome, using a validated remote phenotyping battery that requires no travel.
Lilia Iakoucheva
University of California-San Diego, CA·Neuroscience
Measure how different doses of PFAS chemicals affect the division, cell cycle and survival of human neural progenitor cells derived from induced pluripotent stem cells.
The school
Stanford University: 87 labs on PI Pages, $1.6B a year on research, 739 research doctorates a year.
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