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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.

STUDY ON MICRODUPLICATION 22q11.2 and MICRODELETION 15q11.2 - Hospital for Sick Children, Toronto.

Invitation to Participate

Title of Study: Investigating the “Two-Hit Hypothesis” for Neurodevelopmental Disorders Associated with Recurrent Copy Number Variants 22q11.2 Microduplication and 15q11.2 Microdeletion


Dr. Melissa Carter, M.D., Principal Investigator (416) 813-7654 x 228986
Dr. James Stavropoulos, Ph.D. (416) 813-7654 x 304806
Dr. Irene Drmic, Ph.D., C.Psych. (416) 813-7654 x 208748
Dr. Abdul Noor, Ph.D. (Cytogenetics Fellow) (416) 813-7654 x 201398
Dr. Marsha Speevak, Ph.D. (Trillium Health Partners) (416) 905-1100 x 6635
Dr. Anne Bassett, M.D. (Center for Addiction and Mental Health) (416) 535-8501 x 32731

We are interested in studying individuals with microduplication 22q11.2 or microdeletion 15q11.2 to learn more about the medical, learning, psychiatric and developmental problems that are most likely to be associated with this condition. We are inviting you to participate in a study in which we will collect detailed information about individuals, both children and adults, with these chromosome variants. Parking/transportation costs will be covered for local travel.

Study participation would require:

* Documentation of the 22q11.2 duplication or 15q11.2 deletion for each study participant

* Parent to fill out questionnaires about their child

* Child to have in-person testing at the Hospital for Sick Children (testing of learning and thinking skills, and a brief physical examination)

* An in-person or telephone interview about the child’s medical and developmental history

For more information or to participate, please contact Dr. Melissa Carter at melissa.carter@sickkids.ca or by phone at (416) 813-7654 extension 228986.

Thanks in advance for your participation! We look forward to hearing from you.

 Click here for downloadable .pdf flyer.    Posted November 2, 2015

Children needed for MRI-speech study -
Nationwide Children's Hospital, Columbus Ohio

Who are we looking for? Children ages 4-12 years old with 22q11.2 deletion syndrome (also known as velocardiofacial/DiGeorge syndrome). Children who have a pharyngeal flap or sphincter pharyngoplasty are not eligible. Children who previously had a palate repair surgery (e.g., Furlow) are also not eligible to participate. What is involved? • 15-minute speech video recording (repeating words and sentences) • Oral exam • Medical history review • 15-minute magnetic resonance imaging (MRI) scan of the head while the child is quiet and while the child is saying sounds Before the MRI scan, participants will be able to practice lying in an MRI simulator to feel, see and hear what an MRI machine is like. All MRI scans will be done while the child is awake, without any sedation or anesthesia. A parent or legal guardian may be present with the child for the MRI scan, after passing an initial MRI safety screening. All tests will be done at Nationwide Children’s Hospital. All study procedures (including paperwork and medical history review) will take up to two hours total and can be completed in one or two visits. What are the benefits of participating? • Participation is completely voluntary and will be at no cost to you. • The MRI does not use radiation and is safe for children. • Whether or not you choose to participate will not impact your care at Nationwide Children’s Hospital. • Participants will be compensated for their time and ground travel. How do I participate or find out more? Contact Adriane Baylis, PhD, by phone at (614) 722-3895 or by e-mail at Adriane.Baylis@NationwideChildrens.org.  (also see WEBSITE HERE )  

Posted September 28, 2015

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.