WAGR Syndrome News and Research

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WAGR Syndrome is a rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in the sexual organs and urinary tract (the organs that make urine and pass it from the body); and below average mental ability. This syndrome occurs when part of chromosome 11 is missing. Also called Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome.

Scientists publish the most extensive description to date of WAGR syndrome

Researchers from Children's Hospital of Philadelphia (CHOP) have published the most comprehensive description to date of the rare genetic disorder known as WAGR syndrome. This new report identified several clinical issues not classically associated with the disease and provides guidance for proper diagnosis, management, and potential treatment options.

21 Dec 2021

Precision epigenome editing can repair genetic syndrome of intellectual disability

Using a targeted gene epigenome editing approach in the developing mouse brain, Johns Hopkins Medicine researchers reversed one gene mutation that leads to the genetic disorder WAGR syndrome, which causes intellectual disability and obesity in people.

13 Dec 2019

Epigenome editing could repair genetic brain disorder

A new study published in the journal Nature Communications shows that it may be possible to reverse gene mutations that cause brain disorders, using a very precisely targeted epigenome editing technique. This type of gene editing does not change the gene’s DNA sequence itself but is focused on correcting epigenome changes only. The condition that was corrected in the study is called the WAGR syndrome and is associated with obesity and intellectual disability in people.

11 Dec 2019

Split-brain study using fruit fly provides better understanding of autism

A better understanding of the cause of autism may come from an unlikely source, neurological studies of the fruit fly.

6 Sep 2017

Low levels of 'brain derived neurotrophic factor' may lead to obesity

A brain chemical that plays a role in long term memory also appears to be involved in regulating how much people eat and their likelihood of becoming obese, according to a National Institutes of Health study of a rare genetic condition.

28 Aug 2008