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Support for Disorders of
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.


Do you have a child with 22q? We'd like to hear from you too!

We want to know how 22q has impacted your child’s ability to transition to adult healthcare! If your child is between the ages of 18-30, please share your thoughts with us!

We are asking for a few minutes of your time to complete a short online survey. All of your answers will be confidential.

You could win a $30 Visa gift card!

To participate in this study (STU00203635) or for more information, please visit our Facebook page:

Transition Readiness and Quality of Life: A 22q Research Study

OR

Contact us:

Theresa Sciaraffa, Genetic Counseling Student

Email: TheresaSciaraffa2017@u.northwestern.edu

Katherine H. Kim, MS, Principal Investigator

Email: kkim@luriechildrens.org

Phone: (312) 227-6120

Survey Link for Parents: https://redcap.nubic.northwestern.edu/redcap/surveys/?s=XMLXTC9FCF

Posted November 11, 2016

DOWNLOAD FLYER


Do you have 22q or DiGeorge syndrome or

 VCFS? Are you between the ages of 18-30?

Please consider participating in the following research study (STU00203635)!

All participants will have the opportunity to be entered into a lottery to win one of ten $30 Visa gift cards!

 For more information and to be directed to the online survey, please click on the link below. Thank you for your time!" 

Survey Link: 

 

https://redcap.nubic.northwestern.edu/redcap/surveys/?s=9RPDPDDDRN 

 

Posted September 7, 2016


The University of British Columbia is conducting a study on reducing the risk for and the impact of mental health issues in children and youth with 22q11 deletion Syndrome. Please click this link to see poster for details.  Posted March 1, 2016


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

Protocol ID:IRB#10-001071  UCLA IRB Approved  Approval date: 5/3/2016 Through: 5/2/2017  Committee: Medical IRB 3  (reposted September 4, 2016)


The University of Newcastle, Australia,  is 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


ATTENTION FATHERS!!!! WE NEED YOU

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


UC Davis MIND Instutute Research studies on 22q11 - ongoing projects


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

Clinical Trial for Adolescents with 22q11.2DS and Attention Deficit Hyperactivity Disorder, Anxiety Disorder, and/or Autism Spectrum Disorder:

 

The Children’s Hospital of Philadelphia is testing an investigational study medication for adolescents with 22q11.2DS and the commonly associated conditions of Attention Deficit Hyperactivity Disorder, Anxiety Disorder, and/or Autism Spectrum Disorder. The study drug being tested is called Fasoracetam or NFC-1 and is not currently approved in the US. This study is sponsored by Medgenics, Inc.

 

Patients aged 12 to 17 years old with 22q11.2DS and Attention Deficit Hyperactivity Disorder and/or Anxiety Disorder and/or Autism Spectrum Disorder may be eligible to participate in this study. Study participation lasts up to 17 weeks and includes up to 14 in-person visits at the Children’s Hospital of Philadelphia.  Study medication, study-related medical care, and compensation for time and travel may also be provided.  Participants will receive summary results of their academic strengths and weakness as well as any psychiatric findings.

 

For more information, please contact the 22q and You Center by phone at 215-590-2920 or by email at genetics@email.chop.edu.

 

________________________________________________________________

 

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 third 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:

The 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.