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

 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. While there is no known cure for this genetic syndrome, there is a lot of exciting research happening in this area.  UCLA investigators have recently begun a study to further expand knowledge of 22qDS in humans. This research study is conducted jointly by investigators Carrie Bearden, Ph.D., UCLA Departments of Psychiatry and Biobehavioral Sciences and Psychology, Katrina Dipple, M.D., Ph.D., UCLA Departments of Human Genetics and Pediatrics, and Christina Palmer, Ph.D., UCLA Department of Psychiatry and Biobehavioral Sciences. The goal of the study is 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. Funding for this study is provided by the UCLA Center for Autism Research and Treatment (CART).

What will participation include?

Participation may take between one to two days (~5-6 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.  A comprehensive assessment for autistic spectrum disorders will be conducted. The study also involves a review of medical records, to get information about birth and medical history, and an optional blood or saliva sample, to determine whether the genes affected by 22qDS may be related to differences in behavior. All procedures will be explained carefully and all participation is completely VOLUNTARY. There are minimal risks involved with participating in this study. You may withdraw from the study at any time.  There is no financial obligation on the part of the participant. You will receive a brief report about the test results from the clinical interviews and cognitive assessments.

In addition, participants will be compensated up to $60 for full participation in this study. If after the initial evaluation it is determined that you are not eligible for the study you will be compensated $20 for your time. This is not a treatment study; however, it is hoped that the information gathered from this study may help to develop treatments for the disorder in the future.

 Who may be eligible to participate?

 1. Individuals between the ages of 8 to adult, with a confirmed diagnosis of 22q11.2 deletion.

 2. No diagnosis of a disorder of the brain or nervous system (such as encephalitis, brain tumor, etc.)

 3. No current drug or alcohol abuse

 4. 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 Molly Hardt at (310) 794-9730 or email her at:  hardt@psych.ucla.edu. You may also contact the Principal Investigator of the study, Dr. Carrie Bearden, at cbearden@mednet.ucla.edu

 *Individuals under 18 must have their parents call.

 Principal Investigator: Carrie Bearden, Ph.D.

Department: UCLA Semel Institute, Dept of Psychiatry and Biobehavioral Sciences

Dr. Beverly Emanuel and colleagues are looking into a translocation which occurs between chromosomes 8 and 22 - t(8;22)(q24;q11). If you are a translocation carrier and/or have a child affected with either a balanced or unbalanced translocation between 8 & 22, and are interested in participating in research, please contact her at the address below:

Beverly S. Emanuel, Ph.D.
Professor of Pediatrics
University of Pennsylvania School of Medicine
Chief, Division of Human Genetics
The Children's Hospital of Philadelphia 
Abramson Research Center, Room 1002 
3615 Civic Center Blvd.
Philadelphia, PA 19104-4318
E-mail: beverly@mail.med.upenn.edu 
Phone: 215-590-3856 

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:
We are trying to find genes that that are responsible for predicting severity of velo-cardio-facial syndrome in children and adults with the disorder. We need saliva samples or blood from families (child-mom-dad).  We are in need of specimens for whom the affected child has no heart defects and those for whom the child has had very severe heart defects, such as tetralogy of Fallot .  We need to obtain a copy of an echocardiography report for both categories as well as the ability to obtain additional basic clinical information from your doctor.  We have kits we can send to you that are pre-paid. All information will be kept confidential.  This  study would tremendously help future generations of children with the disorder.  If you are interested in participating, or have questions, please email me at morrow@aecom.yu.edu (and ablonska@aecom.yu.edu).  Thanks much.  

Bernice Morrow
Professor of Molecular Genetics and Ob/Gyn/Women's Health
S.L. and M.K. Olson Professor of Cardiology
Director of the Division of Translational Genetics
Albert Einstein College of Medicine
1300 Morris Park Ave
Bronx NY  10461
Phone:  718-430-4274
Fax:  718-430-8778
email:  morrow@aecom.yu.edu

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.
Either Ximara Peckham (Phone: (212) 305-2876, Email- xp2101@columbia.edu) or Kathleen Jakob (Phone: (212) 305-2790, Email- kj160@columbia.edu). This study has been approved by the Columbia University Medical Center Institutional Review Board (IRB).”

Please do not hesitate to contact us if you have any questions. Philip L. Graham III, MD MS is the Principal Investigator for this study, and can be reached at (212) 305-2790. My name is Kathleen Jakob (Phone: (212) 305-2790, Email kj160@columbia.edu) and I am the study coordinator.

Sincerely,
Kathleen Jakob, RN BSN
Division of Pediatric Infectious Diseases
Columbia University Medical Center
New York, NY

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
Center for Integrative Genomics
University of Lausanne
Genopode Building
CH - 1015 Lausanne
Switzerland

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 diagnosis of cat-eye syndrome. In order to participate in this study you or your child must have a known diagnosis of Cat-Eye syndrome. Participation will consist of:

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:

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
Department of Psychiatry, SUNY Upstate Medical University
750 East Adams Street, Syracuse, NY 13210
Telephone: 315-464-3270     Fax: 315-464-3297
Email: katesw@upstate.edu

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