Raquel Gur
University of Pennsylvania, PA·Medicine & Clinical Research
Why do some young people develop psychiatric conditions such as psychosis, anxiety, ADHD (attention-deficit/hyperactivity disorder) or autism, while others with similar risks do not? Answering this is hard because these conditions usually arise from many genes and life experiences acting together.
- Fields
Medicine & Clinical Research
Genetics
Psychology
- Topics
22q11.2 deletion syndrome
22qDS
DiGeorge syndrome region
- Grants
- 1 known grant, through Dec 2028
What they work on
- 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.
- Examine how environmental exposures, medical burden and family factors contribute to the wide variation in presentation and course of 22qDS, using parent–child trios.
- Test whether polygenic risk scores, built from Psychiatric Genomics Consortium case-control data for common psychiatric disorders, relate to outcomes in people with 22qDS.
- Combine genetic and environmental data to build risk-prediction models for neuropsychiatric disorders, and contribute the data to shared phenomic and genomic resources.
More about the research
One way in is to study people who share a single, known genetic change. The 22q11.2 deletion syndrome (22qDS), in which a small piece of chromosome 22 is missing, carries a high risk for these disorders across the lifespan. Its course looks much like the same disorders in the general population. Studying it can therefore reveal risk pathways that matter more broadly.
Why it matters
Children and young adults with 22q11.2 deletion syndrome face high rates of psychosis and other neuropsychiatric disorders, with very different outcomes from person to person. Identifying which genetic, family, environmental and medical factors shape those outcomes could support models that predict who is at greatest risk. Because the disorders resemble those in the general population, the findings may also inform risk prediction for psychiatric illness more broadly.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
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.
Anca Pasca
Stanford University, CA·Neuroscience
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.
Michael A Mooney
Oregon Health & Science University, OR·Psychology
Map how inattention, hyperactivity-impulsivity, irritability, executive functioning, vigilance and reward delay discounting co-develop from ages 7–19, using longitudinal data from the Oregon-ADHD-1000 and ABCD cohorts.
The school
University of Pennsylvania: 90 labs on PI Pages, $2.2B a year on research, 750 research doctorates a year.
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