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.
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.
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.
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