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Chromosome 22
 
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 CONTACT DISORDERSCONNECTSHOP C22CEVENTSRESEARCHABOUT C22CJOIN C22C


kim

Kim, 22q11 Deletion



caleb

Caleb, age 9
22q11 Deletion Syndrome



allison and andrew

Allison with baby Andrew
Both with 22q11 Deletion


crystal

Crystal, age 2
Cat Eye Syndrome


colin

Colin, 9 months
Emanuel Syndrome


harvey

Harvey
Cat Eye Syndrome


jessica

Jessica, adult
Mosaic Trisomy 22


malori

Malori, 3 years
22q11 Deletion


makily

Makily, age 7
Emanuel Syndrome


payton

Payton, 9 months
22q11 Deletion


vienna

Vienna, 9 years
22q11 Deletion

Research

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.


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


Of interest to our members: Are you a parent or caregiver to a child with a neurogenetic condition such as 22q11.2 deletion syndrome/VCFS/Di George syndrome? Following on from an earlier study, the University of Newcastle would like to further understand how your child has impacted your life and how you have coped. You can do this study even if you participated in the Disclosure study in 2012/2013. To read more, or complete the survey click the link below: www.wix.com/c3094005/geneticdisorders


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
DOWNLOAD FLYER RE STUDY

 


22q11.2 Deletion Syndrome (Velocardiofacial Syndrome), Cognitive Function and Brain Structure Research Study

THE PURPOSE OF THE STUDY

This current research study, conducted jointly by investigators, Carrie Bearden, Ph.D., Departments of Psychiatry and Biobehavioral Sciences and Psychology, Katrina Dipple, M.D., Ph.D., Departments of Human Genetics and Pediatrics, and Christina Palmer, Ph.D., Department of Psychiatry and Biobehavioral Sciences, aims to examine emotional adjustment, thought processes such as memory and attention, and brain structure and

activity in children and adolescents with 22qDS, as compared to children and adolescents without the disorder. The study also aims to determine whether variation in the specific genes affected by 22qDS is related to differences in brain structure, function and behavior. By repeating the assessments at two follow-up visits (1 and 2 years later) we will be able to determine how brain structure and function changes over time in individuals with 22qDS.

WHAT WILL PARTICIPATION INCLUDE?

Baseline participation may take between one to two days (~7 hours for all study procedures). Participants will be given paper and pencil and computer tests of memory, attention and logic, and interviews about their mood, thoughts and behaviors by a trained staff member at the UCLA Center for Cognitive Neuroscience, and an MRI scan at UCLA’S Brain Research Institute. These tests will help us to learn more about how the brain works in people with 22qDS. The study also involves a review of medical records, to get information about birth and medical history, and an optional blood or saliva sample obtained from both you and your child, to determine whether thegenes affected by 22qDS may be related to differences in how the brain works. Some of the study procedures will be repeated at 2 follow-up timepoints. All procedures will be explained carefully and all participation is completely VOLUNTARY. You maywithdraw from the study at any time. There is no financial obligation on the part of the participant.Participants will be compensated up to $260 for full participation in all of the study visits. If after the initial evaluation it is determined that you are not eligible for the study you will be compensated $20 for your time. There are minimal risks involved with participating in this study.

WHO MAY BE ELIGIBLE TO PARTICIPATE?

1. Your child is between the ages of 6-30

2. Your child has a confirmed diagnosis of 22q11.2 deletion, via FISH test

3. Your child has not been diagnosed with a disorder of the brain or nervous system (such as epilepsy, encephalitis, brain tumor, etc.)

4. Your child does not use drugs or abuse alcohol

5. Your child is able to complete the study measures and interviews in English.

 Contact Information: If you are interested in finding out more about this research study, Please call Carolyn Chow at (310) 825-3458 or email beardenlab.ucla@gmail.com

 *Individuals under 18 must have their parents call.

 Principal Investigator: Carrie Bearden, Ph.D.Email: cbearden@mednet.ucla.edu

Department: UCLA Semel Institute, Depts of Psychiatry and Psychology, and Brain Research Institute.Please be assured all inquiries are kept confidential.


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. Also see pamplet here.

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

215-590-2920

genetics@email.chop.edu.

 




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.