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Join our main support list MESSAGE BOARDS FAMILY STORIESC22C INTERNATIONAL PARENT CONTACTS LEARN ABOUT
NEWSLETTERS DOWNLOAD A .PDF COPY OF OUR BROCHURE - SPREAD THE WORD! Chromosome 22 Central Inc.
is a registered Canadian Non-Profit Organization STUDY
ANNOUNCEMENT - We are
announcing an IRB-approved study (Albert Einstein College of Individuals
with a balanced chromosome translocation or inversion: Researchers
affiliated with Harvard Medical School are involved in a research study to
find genes that are important in human development.
The Developmental Genome Anatomy Project (DGAP) aims to study genes
that have been altered by chromosome rearrangements.
In some individuals a balanced chromosome rearrangement is
associated with mental impairment and/or physical abnormalities.
It is possible that when the rearrangement occurred a gene (or
genes) were broken or placed out of order, resulting in developmental
problems. The
focus of the DGAP investigation is to study the chromosomes and genes from
individuals with balanced chromosome rearrangements such as inversions or
translocations who also have
physical abnormalities, disabilities, and/or mental impairment.
Such individuals are usually the first in the family to have a
chromosome rearrangement (the parents do not have the rearrangement and do
not have the same medical problems). Participation
in DGAP involves giving a blood sample at your local doctor’s office,
reviewing and signing the consent form, and asking your doctor to provide
medical records. The identity
of the participant and results are kept confidential.
It is hoped that the research will contribute to a better
understanding of how the human body grows and develops. For more information please contact Heather Ferguson, M.S. at hferguson1@partners.org or 1-866-772-5753, or Azra Ligon, Ph.D. at aligon@rics.bwh.harvard.edu or 1-617-732-7671 Please see our web site at http://dgap.harvard.edu RESEARCH LINKS
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CURRENT RESEARCH WE ARE HAPPY
TO PROMOTE RESEARCH STUDIES See below left index to links to research centres LOOKING FOR t(11;22) de novo carriers Dr. Emanuel's group is trying to examine the mechanism of the t(11;22) translocation to understand how it happens. They especially want to find out whether it can happen in female meiosis as well as in male meiosis. In order to do this, they look at samples from new translocation carriers, which are rare. They need to study individuals who have the balanced translocation, but neither of their parents is a carrier or they can study individuals who have an Emanuel Syndrome affected child and neither of them is a carrier. These are what are called de novo cases. Thus, if there are any de novo carriers willing to participate in research please email me at steph.stpierre@gmail.com . Dear
Families with a 22q11 deletion: A study is
being conducted by the Clinical Immunization Safety Assessment (CISA)
Network. This is a national network of experts in the field of
immunization safety studies. The study is open to children with congenital
anomalies consistent with 22q11.2 deletion syndrome such as
DiGeorge syndrome (DGS) or velocardiofacial syndrome (VCFS). The purpose
of this study is to help doctors determine which children with a deletion
in the chromosome 22q11.2 can be safely immunized. There are no additional
lab tests, shots, or medicines for this study. Your child will not be seen
or examined. Study investigators at Columbia University Medical Center
would review information that already exists in medial records. If you
want more information about participating in this study please contact the
Columbia University Research Assistants.
Natural
History of Emanuel Syndrome: A Questionnaire Study
My
name is Dr. Melissa Carter. I am a Medical Genetics Resident at the
Children's Hospital of Eastern Ontario in Ottawa, Ontario, Canada.
Along with Dr. Kym Boycott and Stephanie St. Pierre, with input from Dr.
Beverley Emanuel and Dr. Elaine Zackai, I am doing a study on the
natural history of Emanuel syndrome.
The
primary aim of this study is to gather information on as many people
with Emanuel syndrome as I can. To do this, I will be distributing
a survey for the parent or guardian to fill out. The survey will ask
questions about the child's birth, health, behaviour, and abilities.
When I have gathered all of the information, there will be a summary
published in a medical journal, as well as on this website.
I
am also doing a study of families carrying the 11;22 translocation.
There is a separate questionnaire for this study, to be filled out by
the parent who carries the translocation. This survey will ask
questions about you and your family members' health. I am
particularly interested in the proposed increased risk of breast cancer
in translocation carriers. There haven't been enough families
studied yet to know if this is a true association or just a coincidence.
If
you are interested in participating in one or both of these studies,
please contact Stephanie St. Pierre at steph.stpierre@gmail.com or
myself, Dr. Melissa Carter at mcarter@cheo.on.ca.
You can participate if you have a child with Emanuel syndrome, living or
deceased, and/or if you carry the 11;22 translocation.
Thanks
very much.
CAT
EYE SYNDROME RESEARCH The
Children’s Hospital of Philadelphia has long been involved in the study
of genetic alterations of chromosome 22. With support from the National
Organization for Rare Diseases, Dr. Emanuel’s laboratory is embarking on
a research study entitled “Improving the Diagnosis of Cat-Eye
Syndrome.” Our
primary goal for this research project is to
develop and test a high-resolution, high-throughput technique to
efficiently detect the duplications of 22q11.2 associated with the Cat-Eye
syndrome. We will design DNA
probes from the sequence of human chromosome 22 to assess copy number
differences of 22q11.2 in order to make the test readily available to
molecular and molecular cytogenetic diagnostic laboratories. We
are eager to receive samples from individuals with a diagnosis of cat-eye
syndrome to test the sensitivity of this new “kit.” To participate in
this study you or your child must have a diagnosis of Cat-Eye syndrome on
the basis of either phenotypic findings or cytogenetic analysis. Participation
will consist of providing information regarding the individual’s medical
findings relevant to the diagnosis of Cat-Eye syndrome. This could,
potentially be transmitted as part of a telephone interview with one of
our genetic counselors. Alternatively,
this might require review of medical records.
Participants will also be asked to provide a blood sample for DNA
and chromosome analysis. Any
individual with a diagnosis of Cat-Eye syndrome is welcome to participate.
Another goal of the study is to document the frequency of various types of
problems in individuals with Cat-Eye syndrome in relation to the amount of
genetic material that is duplicated.
This will help us to investigate the reasons for different features
and symptoms that are seen in individuals with Cat-Eye syndrome. If there
are multiple family members with the diagnosis, we would like to involve
your family in a more detailed analysis of the genetic aspects that could
potentially lead to recurrence of Cat-Eye syndrome. If you would like to
learn more about this opportunity or to participate in our study, please
contact Donna McDonald-McGinn, M.S. at (215) 590-2920 or via email at MCGINN@email.chop.edu. CHOP Research Studies Vaccine Response Influenza is a serious illness. Yearly outbreaks of influenza are due to small changes in the influenza virus which arise each year, requiring annual vaccines to provide protection. Many people feel that we are facing an impending major epidemic in the near future. We know that there are some immune compromised patients, due to a chromosome 22q11.2 deletion, who are at risk for serious disease from influenza because their bodies cannot fight off the infection. Unfortunately, these patients may not respond well to the vaccine, making it difficult to protect them from influenza. With this in mind, Dr. Kathleen Sullivan, Chief of Immunology, is conducting a study at the Children's Hospital of Philadelphia, trying to determine whether there are ways to predict who will respond to influenza vaccine and who would require other strategies. She is therefore recruiting children and adults with a chromosome 22q11.2 deletion who would be interested in participating in this study. Specifically, the patients will receive the vaccine and have a number of immunologic studies to determine whether they produce appropriate antibodies to the vaccine and whether any predictors of vaccine responsiveness can subsequently be identified. If you or someone you know is interested in participating in this study, please contact Marrisa Kuba, RN at 267-426-2384. t(11/22)
GENE EXPRESSION STUDY: I
am a post-doctoral researcher at the University of Lausanne in Switzerland
and am setting up a study to look at the effect of the t(11;22)
translocation on gene expression in both balanced translocation carriers
and individuals with the der(22) chromosome. I
will be looking at the genes in the region of the breakpoints on both
chromosome 11q23 and 22q11. The main aim of the study will be to determine
the differences in the expression of these genes between cytogenetically
normal individuals, balanced translocation carriers and individuals with
the der(22) chromosome. The results from this study will hopefully provide
us with a deeper understanding of the cause of the developmental problems
associated with Emanuel syndrome. I
am seeking individuals or families with the t(11;22) balanced
translocation and those with the der(22) chromosome. Individuals wishing
to be involved in the study will be asked to supply a blood sample and
sign a consent form. All information will be treated confidentially. For
more information about the study, feel free to contact me: Louise
Harewood Tel:
+41 (0)21 692
39 67 e-mail:
Louise.Harewood@unil.ch CAT EYE SYNDROME RESEARCH OPPORTUNITY Cedars-Sinai
Medical Center is a world leader in the study of genetic conditions. The
Department of Medical Genetics at Cedars-Sinai Medical Center, in
conjunction with support from the National Organization for Rare Diseases,
is conducting a research study involving individuals with a 1)
A review of medical records, limited only to those records that address
issues and treatment related to the diagnosis of cat-eye syndrome. 2)
A telephone interview with one of the study coordinators to discuss
your/your child’s history and quality of life issues. Any
individual with a diagnosis of cat-eye syndrome is welcome to participate.
The study coordinators are particularly interested talking with
individuals that are age 10 or older. The purpose of the study is to
document the frequency of various types of problems in individuals with
cat-eye syndrome as they get older. The
researchers are also interested in investigating the reason for the
different symptoms that we see in individuals with cat-eye syndrome. If
there are multiple family members with the diagnosis, we would like to
talk with your family about a special part of the study that involves
detailed analysis of the genetic changes that lead to cat-eye syndrome. If you would like to learn more about this opportunity please contact Nancy Kramer, M.S. at (310) 423-9943 or via email at nancy.kramer@cshs.org. 22q11.2 Brain and Cognition Study Dr.
Tony Simon, Ph.D. invites your 7- to 14-year-old with a chromosome 22q11.2
deletion to participate in a research study on learning difficulties with
math and related cognition. The study involves examining the structure and
function of brain regions that affect visual-spatial and numerical
abilities. The goal of the study, funded by the National Institutes of
Health, is to develop interventions aimed at reducing these cognitive
difficulties. . Children
who participate in the study will complete the “Space Ship Training
Program,” which includes computer games, a brain MRI scan and
neuropsychological tests all wrapped in a “spaceship” or other fun
theme. Children play a computer game and watch a simulated in-flight movie
in the MRI scanner. MRI scans do not involve any radiation and all tests
are safe and painless. Participation involves two visits, which will take
approximately four hours each to complete. All testing is for research
purposes only, is at no cost to families and includes a gift for your
child. As of February 2005, the study has moved to the M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute at the University of California, Davis. For further information contact: Marisol Q. Mendoza,
M.A. You may also check the M.I.N.D. website at http://cabil.mindinstitute.org Dr. Simon has several articles available for download on his website. Click here. VCFS/DiGeorge
Syndrome Research Study Drs.
Kucherlapati and Finn of the Department of Genetics are conducting a VCFS
research study at Children’s Hospital, Massachusetts General Hospital,
and Brigham and Women’s Hospital in Boston, Massachusetts. This
study is looking at the relationship between changes in genes and the
observed medical conditions seen in patients with VCFS/DiGeorge Syndrome,
and their family members. We
are looking for children and adults with VCFS, and their family members
(parents, siblings) both with and without VCFS who are interested in
participating in a research study. Participation
would involve a visit to the hospital, lasting about two hours.
At the visit, patients with VCFS will have a physical examination,
a review of their medical and family history, and a blood sample
collection. Family members
will also be asked to provide a small sample of blood.
We will use this blood to isolate DNA and look for changes in genes
that might be associated with different medical conditions in VCFS.
We hope that the results of this study will help us understand VCFS
and provide better care to these patients in the future. For more information about this study, please contact the study coordinator, Erica Tworog-Dube, MS, at etworog-dube@partners.org or (617) 525-4490. Neuropsychiatric
Aspects of VCFS/DiGeorge Syndrome Drs.
Kucherlapati and Finn of the Department of Genetics are conducting a VCFS
research study at Massachusetts General Hospital and Brigham and Women’s
Hospital in Boston, Massachusetts. This
study is looking at the relationship between changes in genes and
psychiatric and neurological conditions seen in patients with VCFS/DiGeorge
Syndrome. We are
looking for adults over the age of 18 with VCFS who are interested in
participating in a research study. Participation
would involve a visit to the hospital, where an MRI scan of the brain will
be completed, as well as a standardized psychiatric interview.
At the visit, patients with VCFS will have a physical examination,
a review of their medical and family history, and a blood sample
collection. Participants will
receive compensation for study participation, as well as reimbursement for
travel expenses. In addition, results of the MRI and psychiatric
assessment will be made available. We hope that the results of this study
will help us understand VCFS and provide better care to these patients in
the future. For more information
about this study, please contact the study coordinator, Erica
Tworog-Dube, MS, at etworog-dube@partners.org or (617) 525-4490. STUDY ANNOUNCEMENT - SUNY Upstate Medical University Our
laboratory studies the brain and behavioral development of children with
velocardiofacial syndrome (VCFS). VCFS
is caused by a microdeletion in the long arm of chromosome 22 (22q.11) and
is associated with craniofacial anomalies, cardiac defects, learning
disabilities, and psychiatric disorders.
Up to 30% of adults with VCFS develop schizophrenia or bipolar
disorder. Study participants
are administered a battery of neuropsychological and psychiatric testing,
smooth pursuit eye tracking tasks, as well as a brain MRI scan.
Subjects are evaluated at Time 1 and again three years later, at
Time 2. Our aim is to
determine 1) the phenomenology and natural history of child psychiatric
disorders in children and adolescents with VCFS, and 2) whether
abnormalities in brain morphology and putative biomarkers of schizophrenia
or bipolar disorder (which include eye tracking performance, sustained
attention, and working memory), are present and co-occur in children and
adolescents with VCFS. Ultimately,
we hope to determine whether subjects who display brain abnormalities and
putative biomarkers for schizophrenia and bipolar disorder deteriorate in
adaptive/psychosocial function or mood regulation between Time 1 and Time
2. For
more information about this study, please contact: Wendy
Kates, Ph.D. Associate Professor Study
of Polymicrogyria and 22q11 deletion The
laboratory of Dr. Christopher A. Walsh at Beth Israel Deaconess Medical
Center and Harvard Medical School in Boston is searching for genes that
are involved in brain development. We are currently enrolling individuals
in our research who have a chromosome 22q11 deletion and polymicrogyria.
Polymicrogyria is diagnosed by brain imaging (MRI or CT) which
shows many more and smaller folds than usual in the brain. We suspect that
there may be genes involved in brain development located in the 22q11
region. Families
choosing to participate would be asked to send a blood sample from the
individual with the deletion and polymicrogyria as well as from each
parent. We would also request to review medical records and films from MRI
or CT imaging. You do not need to travel to Boston to participate. For
more information about this study, or if you are interested in
participating, please contact: Brenda Barry, MS, or Jennifer Partlow, MS
at walshlab@bidmc.harvard.edu.
You may also reach Brenda by phone at (617) 667-8035 or Jennifer at (617)
667-8044. For
more information about the Walsh Laboratory please visit www.walshlab.org. A STUDY OF THINKING SKILLS IN CHILDREN AND ADULTS WITH AND WITHOUT VELOCARDIOFACIAL SYNDROME The Departments of Behavioral Services (Division of Neuropsychology) and Genetics are jointly conducting a research project and recruiting volunteers to participate in a study to examine the thinking skills in children and adults with and without Velocardiofacial Syndrome (VCFS). The purpose of the project is to explore differences in thinking styles between individuals with and without VCFS. It is also intended to identify individuals at risk for other possible difficulties so as to guide early intervention efforts. This study will be conducted at the Henry Ford Health System. If you or your family chooses to participate, you or your child will be scheduled for one, 4 to 6-hour appointment for neuropsychological testing which will involve paper and pencil measures of the individual's thinking skills. General findings will be discussed and recommendations made (i.e. academic, etc.). You or your child's participation in this study would be voluntary and all information obtained would be confidential. Individuals will be paid $30 for their participation in the project. If you would be interested in participating in this study, please contact the Principal Investigators, Dr. Renee Lajiness-O'Neill or Dr. Isabelle Beaulieu in the Division of Neuropsychology at (313) 876-2526. If you have any questions about your child's rights as a research subject, you may contact the Research Office at Henry Ford Health System at (313) 916-2024. |
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Head Office - for ALL
inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre,
237 Kent Avenue, Timmins, Ontario, Canada P4N 3C2 US
Head Office - donations only: Chromosome 22 Central, c/o
Murney Rinholm,
7108 Partinwood Drive,
Fuquay-Varina, North Carolina, 27526 USA,
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