PIPages
Labs

Jennifer Mulle

Rutgers University-New Brunswick, NJ·Genetics

Some rare genetic changes greatly raise the risk of serious brain disorders, yet they affect each person differently. 3q29 deletion syndrome is caused by the loss of a small stretch of chromosome 3 containing 21 genes, usually as a new mutation not inherited from a parent.

Fields

Genetics

Psychology

Medicine & Clinical Research

Topics

3q29 deletion syndrome

copy number variant

schizophrenia

Grants
1 known grant, through Dec 2026

What they work on

  1. 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.
  2. Test whether polygenic background, the combined effect of many common gene variants, and sex modify risk for psychosis, cognitive disability and social functioning, using DNA from participants.
  3. Assess biological parents to measure how far each carrier's traits depart from those expected from their parents, clarifying the range of variability in the syndrome.
  4. Compare traits and risk modifiers of the 3q29 deletion with more than 2,000 samples from other genomic disorders, including 22q11.2 and 16p11 copy-number changes, through the Genes 2 Mental Health Network.

More about the research

People with the deletion have about a 40-fold higher risk of schizophrenia. They also show high rates of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), anxiety and difficulties with handwriting and planning. Why symptoms vary so much between carriers is not known.

Why it matters

People with 3q29 deletion syndrome face a very high risk of schizophrenia, autism and other developmental brain disorders. Knowing which traits are most common and how sex and background genetics raise or lower risk could help families and clinicians anticipate problems in carriers and better understand rare genetic causes of psychiatric illness.

Known grants

From NIH and NSF research grants. Labs often have other funding we can't see.

The schizophrenia-associated 3q29 deletion: genetic architecture of behavioral phenotypes

NIH · Mar 2023 – Dec 2026

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.

Eric M Morrow

Brown University, RI·Neuroscience

Map gene-expression and molecular pathway changes in embryonic brain of 17q12-deletion mice, testing whether reduced dosage of genes in the interval, including the Wnt-regulating transcription factor Lhx1, disrupts early brain development.

Eduardo Villamor

University of Michigan, MI·Public Health & Epidemiology

Build a whole-country cohort of more than 1.4 million grandmother–parent–grandchild triads by linking nationwide Swedish registries.

The school

Rutgers University-New Brunswick: 57 labs on PI Pages, $837M a year on research, 713 research doctorates a year.

More about Rutgers University-New Brunswick

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