Completed Research Opportunities
These research projects are now closed to enrollment.
Neuronal Stem Cells from Dental Pulp for Study of Neurogenetic Disease
Can neurons be grown from dental pulp of individuals with neurogenetic syndromes?
Dr Reiter’s laboratory 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 15q.
What do we need to do to participate?
Participants will be required to submit a genetics report describing their duplication/deletion, Angelman syndrome or control status with regards to 15q. I 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 48 hours after the time they came out of the mouth and in the special media provided.
For more information on how to participate, please contact:
Lawrence T. Reiter
Department of Neurology
University of Tennessee Health Science Center
Memphis, TN
lreiter@uthsc.edu
Phone: 901-448-263
Please note
You will need to have the tubes prior to collecting teeth. Please contact Dr. Reiter to request your collection tube. You will need to include a copy of your genetic report, which can easily be found on your registry page. Dr. Reiter is happy to accept teeth from families outside of the United States, as long as they are placed in the provided tube immediately after being removed and arrive at his lab within 2-3 days of removal.
Rare Epilepsy Network
We are excited to announce that the Rare Epilepsy Network (REN) Registry is open for enrollment! The REN is a patient-powered and patient-centered research network that will expedite research into the rare epilepsies. The REN is led by the Epilepsy Foundation in partnership with 10 rare epilepsy organizations, including Dup15q Alliance, and Columbia University, New York University and RTI International.
Dup15q Alliance is hoping to recruit at least 100 people with chromosome 15q11.2-13.1 duplication (dup15q) syndrome into the REN, and we need your help to make this happen. There are no exclusion criteria as long as the person affected by dup15q syndrome has had one or more seizures. If you are a parent or legal guardian of a person with dup15q syndrome, please consider participation in this important research project.
Enrollment in the REN Registry is simple. You will be asked to fill out a survey about the affected person which asks about his/her diagnosis, seizures, treatment, development and medical history. There is also a section that asks about your quality of life and the impact that epilepsy has had on your family. The more information you provide in completing the questions, the more valuable your data will be for research. If you have a list of seizure drugs that were EVER taken, this may help you in completing the section about treatment.
To learn more about the Registry or to begin the enrollment process, please visit the REN website at REN.rti.org.
Thanks to LGS Foundation for the Top 10 graphic.
Autism Phenotype in 15q Interstitial Duplication Patients
The role of UBE3A in autism spectrum disorders
Dr. Reiter’s lab studies a protein called UBE3A. The primary role of UBE3A is to target other proteins for degradation by the ubiquitin proteasome system. It has been known for some time now that maternally inherited mutations in UBE3A or deletions encompassing UBE3A can cause a severe neurological disorder called Angelman syndrome. More recently several groups have shown that interstitial duplication 15q patients preferentially inherit this duplication from their mothers. We believe that this maternal preference is a clear indication that duplication of the UBE3A gene is responsible for at least some aspects of the autism phenotype in these individuals. In a recent publication Dr. Carolyn Schanen has shown that at least some 15q duplication patients have elevated levels of UBE3A protein in their blood cells. Our hypothesis is that the proteins regulated by UBE3A are detrimentally affected by this elevation in UBE3A levels resulting in an autism phenotype.
What is the purpose of this study?
The focus of this study is to do an in depth analysis of interstitial duplication 15q patients in order to gain insights into which characteristics of this type of autism may be the result of UBE3A mis-regulation. The study will involve three days of tests that include a neurological exam, a blood draw, an EEG, language, and neuropsychiatric evaluations. We hope that by analyzing individuals with this small 15q duplication, we will be able to better understand which characteristics of autism are related directly to the up regulation of UBE3A levels.
Whom do we want to recruit for this study?
Our goal is to recruit 40 interstitial duplication 15q11-q13 patients for this study. Since our focus is primarily on the phenotypic effects of the UBE3A gene, we are not recruiting patients with the larger isodicentric 15q duplication as the additional genes in this duplication will contribute to complicate the phenotypic analysis. Also, since this particular duplication is rare, the study is open to patients of all age groups. We will also be analyzing non-duplication autism controls for the study. This pilot study is currently being funded through the Shainberg Neuroscience Fund from Le Bonheur Children’s Hospital. Funds are available for travel to Memphis, housing and food. If interested please send Dr. Reiter a genetics report confirming the region duplicated on 15q.
Whom do I contact?
Families who wish to learn more about this study please contact:
Dr. Lawrence T. Reiter
Department of Neurology
University of Tennessee Health Science Center
Memphis, TN
lreiter@uthsc.edu
(901)448-2635
Gastrointestinal Patterns and Diet Intake
Gastrointestinal problems in dup15q syndrome
Gastrointestinal (GI) problems and feeding issues are commonly reported by parents of children with dup15q syndrome. The most common GI problems reported are reflux and constipation. Finding foods that the children can and will eat is also a challenge. It has been found that when GI and feeding issues are treated successfully, behavioral issues like irritibility and aggressiveness improve as well. More research into GI problems and food issues in people with dup15q syndrome is needed in order to develop better targeted treatments.
What is the purpose of this study?
Investigators at Le Bonheur Children’s Hospital Dup15q Clinic are conducting a survey to better understand gastrointestinal problems and difficulty in diet intake in children with dup15q syndrome. The purpose of the study is to find out if there is a link between gastrointestinal problems and what your children eat.
Whom do we want to recruit for this study?
We are looking for parents/legal guardians who have a child between the ages of 2 and 17 with dup15q syndrome, and a sibling of that child who does not have dup15q syndrome, is at least 2 years old, and is close in age (no more than 3 years older or younger) to the child with dup15q syndrome.
You will need to answer questions about the occurrence of vomiting and about weekly amounts of stools and their classification according to a scale. Once a week you will complete a dietary recall about what your child ate during the last 24 hours.
Whom do I contact?
If you meet the criteria above, and would be willing to participate in the study, click here to get started.
If you wish to learn more about this study please contact:
Dr. Mark R. Corkins
Department of Gastroenterology
Le Bonheur Children’s Hospital
Memphis, TN
mcorkins@uthsc.edu
(901) 287-5437
Cognition and Social-Communication Function in Children with Dup15q Syndrome
Dup15q and Autism
What is the purpose of the study?
Whom do we want to recruit for this study?
Whom do I contact?
Prenatal Microarray Follow-Up Study
What is the effect of CNV identified prenatally on child’s health and development?
The purpose of this study is to determine the effect of copy number variants (CNV), identified by prenatal microarray testing, on your child’s health and development. CNVs are deletions or duplications of genetic material. Until now, the only information we could give families who had a CNV identified at the time of prenatal diagnosis came from research done on children who were tested by microarray because they already had medical and/or learning problems. This may not show the full range of the effects of specific CNVs. Studying children with specific CNVs identified during pregnancy through prenatal microarray testing will allow us to better understand the effect of these CNVs (if any) on children. By identifying these children before they have symptoms, we may also learn why some children develop difficulties and others don’t. The information gained through this study will be valuable to counsel families about the possible effects of specific CNVs on a child’s health and development.
What do we need to do to participate?
You need to have a child under the age of three who was diagnosed prenatally with a copy number variant. Once you are accepted for the study, we will check in with you every six months to see how your child is doing and answer any questions. When your child turns two, we will mail you a questionnaire about his/her development. Around your child’s third birthday, we will conduct a telephone interview about your child’s social skills and development. We will then schedule an in-person evaluation. All travel expenses will be paint and we will try to make this appointment as convenient as possible.
Whom do I contact?
Contact Amita Russell by calling 1-855-77-ARRAY (1-855-772-7729) or emailing abr2143@columbia.edu. More information can be found on their website –www.prenatalarray.org. View brochure.
Ronald J. Wapner, MD, Principal Investigator
Heather Shappell, MS, CGC, Project Manager
Amita Russell, MS, CGC, Microarray Follow-up Study Specialist
Columbia University, New York, NY
(funded by National Institutes of Health)