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Chromosome 22
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Kim, 22q11 Deletion


Caleb, age 9
22q11 Deletion Syndrome

allison and andrew

Allison with baby Andrew
Both with 22q11 Deletion


Crystal, age 2
Cat Eye Syndrome


Colin, 9 months
Emanuel Syndrome


Cat Eye Syndrome


Jessica, adult
Mosaic Trisomy 22


Malori, 3 years
22q11 Deletion


Makily, age 7
Emanuel Syndrome


Payton, 9 months
22q11 Deletion


Vienna, 9 years
22q11 Deletion


We are happy to help spread the word about studies that are of interest to C22C community members. Email Stephanie if you would like to post a study on this page.

Brain Structure and Function in Genetic Disorders UCLA - Departments of Psychiatry, Psychology, Neurobiology, and Genetics

UCLA has research opportunities for individuals over 18 years old with 22q11.2 Deletion Syndrome (Velocardiofacial Syndrome).

Background: Many people with 22q11.2 Deletion Syndrome (Velocardiofacial Syndrome) have a greater chance of having attention deficits, learning disabilities, and particular psychiatric conditions such as autistic spectrum disorders. 22q11DS is caused by mutations in specific genes which affect brain development and can cause developmental delays and learning disabilities as well as certain physical problems like heart defects. One of the major obstacles in treating the disease is that scientists cannot study directly the nerve cells in the brain of individuals with 22q11DS. The purpose of the research is to create human induced pluripotent stem cells (iPSC) from a small skin sample in order to model the disease in a laboratory and better understand the structure and growth of nerve cells and their connections.

In this research, your skin will be sent to Stanford University and induced to become iPSC. The iPSC will then be induced to become nerve cells in order to model 22q11DS and possibly identify future therapies.

Study aims:

• To examine emotional adjustment, thought processes such as memory and attention, and brain structure and activity in individuals with 22qDS, as compared to those without the disorder.

• To create human induced pluripotent stem cells (iPSC) from skin samples. The iPSC will be induced to become nerve cells in the laboratory in order to model 22q11DS and possibly identify future therapies.

• To determine whether variation in the specific genes affected by 22qDS is related to differences in brain structure, function, and behavior.

Study procedures: Study procedures include an MRI brain scan, clinical interview, tests of memory and attention, blood/saliva sample, skin sample and review of medical records. Participation may take between one to two days (~6-7 hours for all study procedures) per visit and includes 3 visits in total. All procedures will be explained carefully and all participation is completely VOLUNTARY.

Compensation: Participants will be compensated up to $310 for full participation in all study visits and will receive a brief report about the test results from the clinical interviews and cognitive assessments.

For more information: Please call Leila Kushan at (310) 825-3458 or email beardenlab.ucla@gmail.com

Posted August 26, 2015

The University of Newcastle, Australia, seeking participants have a sibling with 22q11.2 deletion syndrome /VCFS who are aged 12 years or older to participate in the study. You must live in the Sydney or Hunter regions of NSW. Click for full information.

Posted July 19, 2015

The Stress Cognition and Affective Neuroscience Laboratory (SCAN Lab) at the University of New Orleans, in Louisiana, is currently seeking a Military family with a child between the ages of 1 and 2, with 22q11.2 Deletion Syndrome, in order to conduct a longitudinal case study, with the potential to help inform the general population with regards the early stages of the syndrome, and development, as neurological, behavioral and the cognitive critical period is in its prime action.

 Compensation for time and dedication is being considered and will depend on Grant funding, however a pre-screening is done online and donation of the family time is highly appreciated. Potential participants are welcome to e-mail me @ tbegault@uno.edu or to contact me through phone @ (504) 275-7489, phone calls and text messages are more than welcomed!   Tatiana Sofia Begault

In Addition the SCAN Lab currently seeks Louisiana children from the ages of 8 to 14 years old, with 22q.11.2DS to participate in current research. We provide every assistance possible in order to have your collaboration. Feel free to contact us through our web site: http://labs.uno.edu/scanlab/contactUs.html 

Posted June 24, 2015


Are you a father of a child with 22q11.2 Deletion syndrome? The University of Newcastle is interested in your experiences of well-being, coping styles, and access to support, as well as your level of growth since your child’s diagnosis. If you want more information, or would like to complete the questionnaire, please follow this link   http://www.findlab.net.au/are-you-a-father-of-a-child-with-a-genetic-syndrome/

Posted June 7, 2015

Stanford University School of Medicine is seeking participants with the 22q11 deletion for a stem cell model study - and who are between the ages of 18-40. Download FLYER HERE for more info.

Posted May 2015

UCLA Center for Autism Research and Treatment: Cognitive function and Brain Structure Research Study for children with 22q11.2 Duplication - Click here for flyer.

UCLA Center for Autism Research and Treatment: Brain Struction and Function in Genetic Disorders - for those ages 18 and over with 22q11.2 deletion syndrome. Click here for flyer.

Posted September 4, 2014

The Centre for Genomics and Policy at McGill University is looking for participants for a study on the experiences and preferences of patients with rare diseases and also of parents of children with rare diseases, in the Toronto and Ottawa Areas.

Please see flyers for

ADULTS with Rare disorders and

PARENTS of children with rare disorders

Posted May 6, 2014

Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis, TN is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including chromosomal duplications and deletions of human chromosome 22q. Participants will be required to submit a genetics report describing their deletion status with regards to 22q. Dr. Reiter will provide a tube of cell growth solution and a return package to you at no cost. Should you agree to participate you will only need to provide a fresh tooth specimen, either extracted or one that fell out on its own. Teeth must arrive at Dr. Reiter's laboratory no more than 48hrs after the time they came out of the mouth and in the special media provided.

For more information on how to participate, please contact Dr. Reiter directly via telephone: (901) 448-2635 or by e-mail:lreiter@uthsc.edu.
Lawrence T. Reiter, Ph.D.
Associate Professor, Department of Neurology

UC Davis MIND Instutute Research studies on 22q11

22q and You Center at Children’s Hospital of Philadelphia - Current studies:

A study examining Genetic Modifiers in the 22q11.2 deletion syndrome. This study is being conducted by Dr. Beverly Emanuel, Chief of the Department of Human Genetics at Children’s Hospital of Philadelphia, and Dr. Bernice Morrow, Professor of Genetics at Albert Einstein College of Medicine. DNA samples are being collected from affected individuals and their parents to investigate the causes of the 22q11.2 deletion and determine the genes that influence the clinical presentation of these patients.

The second is a study headed by Dr. Raquel Gur, a psychiatrist at the University of Pennsylvania, examining Brain and Behavior in individuals with 22q11.2. Participants give a blood sample for research, play a game on the computer, and speak with a Psychologist at the University of Pennsylvania about their feelings and emotions. Additionally, if the participant is eligible, he or she may undergo an MRI of the brain.


For further information, contact:

Alice G. Bailey

Clinic Coordinator, 22q and You Center

The Children's Hospital of Philadelphia

34th Street and Civic Center Boulevard

Philadelphia, PA 19104




22q11 Study

We have formed an international consortium of scientists to understand the cause of variable symptoms in association with the typical 22q11.2 deletion.  
Our goals are to identify genes that could explain why some VCFS/DGS/22q11DS patients have cardiovascular defects while others do not, as well as to see if any of those genes contribute to heart defects in the general population.  

We are actively recruiting children and adults with the syndrome that either have or do not have heart (and/or vascular) defects.  We are collecting saliva samples from children over the age of 5 yrs and their healthy parents.  Personal information will be kept confidential.  We do not provide results because its a population study.  If you are interested in participating please email Bernice Morrow (Albert Einstein College of Medicine, NYC) at bernice.morrow@einstein.yu.edu.