Kim, 22q11 Deletion
Caleb, age 9
22q11 Deletion Syndrome
Allison with baby Andrew
Both with 22q11 Deletion
Crystal, age 2
Cat Eye Syndrome
Colin, 9 months
Emanuel Syndrome
Harvey
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
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.
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
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
*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.
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.
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.
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