Results for 22q.211 Deletion Syndrome

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Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.

E-mail:

emanuel [at] chop.edu

In the News: Humanitarian Award, Psychosis with 22q11.2 Deletion, Antibiotic Stewardship, Continuous Glucose Monitoring, New Algorithm for DNA Methylation

Published on

Aug 14, 2020

in Cornerstone Blog

In the News this week features a Humanitarian Award, along with research on psychosis, antibiotics continuous glucose monitoring and DNA methylation.

New Consortium to Study Link Between Rare Disorders, Psychiatric Conditions

Published on

Mar 31, 2020

in Cornerstone Blog

Genome to Mental Health consortium to study link between rare disorders, psychiatric conditions.

Underpinnings of Neuropsychiatric Disease: A Behavioral Health Research Q&A

Published on

May 24, 2016

in Cornerstone Blog

A self-proclaimed “geeky student” in high school, Stewart Anderson, MD, a research psychiatrist, always dreamed of being a scientist. He wandered through various fields — anthropology, archeology, geology, astronomy – before becoming fascinated with learning about the brain.

CHOP Genetics Expert Co-Leads Large New NIH Grant on Psychiatric Illnesses in Patients with Deletion Syndrome

Published on

Oct 15, 2013

in Cornerstone Blog

An international collaboration will delve into why patients with chromosome 22q11.2 deletion syndrome have an elevated risk of schizophrenia and other psychiatric illnesses. Genetics experts from The Children's Hospital of Philadelphia are among the top leaders of this major collaboration, which aims to discover the genes implicated in the syndrome and shed light on the biological causes of mental illness in the general population.

Lifespan Brain Institute

LiBI conducts research in children, adolescents, and adults to study how brain and behavior change over time and in response to illness, with a focus on risk and resilience factors. Areas of research include behavior, cognition, environmental risk, genetics, neuroimaging, and animal models.