22q.211 Deletion Syndrome | CHOP Research Institute
 

22q.211 Deletion Syndrome

Gene Therapy Approval, 22q11.2 Deletion Syndrome, ASCI Inductions, Transit-Amplifying Cells, Machine Learning

Published on
Jan 5, 2024
in Cornerstone Blog
In The News: Gene Therapy Approval, 22q11.2 Deletion Syndrome
Celebrate the new year with three CHOP researchers who were elected new members of the American Society for Clinical Investigation. This and more.

Lifespan Brain Institute

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.

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
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 Mental Health
Genome to Mental Health consortium to study link between rare disorders, psychiatric conditions.
Beverly S. Emanuel, PhD
Beverly S. Emanuel Headshot

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

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.