Results for 22q 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] email.chop.edu

View Beverly S. Emanuel's Profile

Maria R. Mascarenhas, MBBS

Dr. Mascarenhas is director of the Nutrition Support Service, section chief of nutrition in the Division of Gastroenterology and Nutrition, medical director of the Clinical Nutrition Department, and director of the Integrative Health Program. Her research interests involve 22q deletion syndrome, cystic fibrosis, nutrition, and integrative medicine.

E-mail:

mascarenhas [at] email.chop.edu

View Maria R. Mascarenhas's Profile

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.

CHOP Experts from 22q and You Center Update Multiple Facets of the Condition in Special Issue of Journal

Published on

Dec 19, 2018

in Press Releases

Dozens of Children’s Hospital of Philadelphia (CHOP) clinicians and researchers contributed to a recent special issue of the American Journal of Human Genetics.

Lifespan Brain Institute Symposium Digs Into Roots of Mental Illness

Published on

Mar 21, 2018

in Cornerstone Blog

Two-hundred attendees gathered for the first Lifespan Brain Institute Symposium to dig deep into the neurobiological development of mental illness.

In the News: Breastfeeding Practices, Cardiac Life Support, Vaccination Schedules, Face Recognition Diagnosis, American Academy Election, AAPOS Award

Published on

Apr 21, 2017

in Cornerstone Blog

A simple question raised by a concerned parent can often kick-start lines of research at Children's Hospital of Philadelphia. This week in the news, those sorts of everyday queries - whether they're about how to breastfeed, why parents should follow a vaccine schedule, or how mechanical circulatory support devices work - led to exciting headline-making stories.

In the News: ONC Award, Vision and Concussions, Raising 22q11.2 Deletion Syndrome Awareness

Published on

Jul 22, 2016

in Cornerstone Blog

Our weekly installment of In the News keeps an eye out for the latest research happenings. This week we're excited to report on a second award for an innovative technology solution to access, filter, and harness emerging disease updates.

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.

Emanuel Laboratory

The Emanuel Lab 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). The lab's 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.

Inflammation and Immunity Laboratory

The Inflammation and Immunity Lab has a broad interest in immune dysfunction. This can underlie susceptibility to infections and autoimmunity and inflammation. The investigators in the lab use cutting-edge approaches to investigate cause in individual patients and to look at population-wide causes of disease.