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
Phone: 901-448-263

View flyer

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.

Enroll Here

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.

10 reasons for REN webEnrollment 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

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

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
(901) 287-5437

Cognition and Social-Communication Function in Children with Dup15q Syndrome

Dup15q and Autism

Children with 15q11-q13 duplications are at high risk for neurodevelopmental disabilities, particularly autism spectrum disorder (ASD) and intellectual disability (ID). The UCLA Center for Autism Research and Treatment (CART) is a leading center for autism research and has been named one of the three national Autism Centers of Excellence. Studies in CART have been focused on defining clinical subgroups within the very heterogeneous autism spectrum in order to design targeted interventions that are tailored to the specific needs of each child. 

What is the purpose of the study?

This study combines the clinical expertise in ASD and ID of Dr. Jeste with the intervention expertise of Dr. Kasari to comprehensively and systematically characterize cognitive and social-communication function in children with dup15q syndrome, using standardized behavioral testing, play-based assessments, and EEG. The overarching goal is to determine if there are specific areas of strength or impairment that may serve as targets for behavioral intervention.
The study will involve approximately 3 hours of testing, including parent questionnaires, behavioral evaluations of the child, and a 20-minute high-density EEG session. We will provide each family with written and verbal feedback on the behavioral testing. Furthermore, a subset of children will be entered into a pilot behavioral intervention for social-communication function for a total of 12 one-hour sessions. The intervention will be conducted under the supervision of Dr. Connie Kasari, a leader in intervention research for infants and children with developmental disabilities. 

Whom do we want to recruit for this study?

Our goal, for this pilot study, is to recruit and study 15 children ages 1-10 with either interstitial or isodicentric 15q11-q13 duplications. Five of these children, ages 3-6, will be entered into pilot intervention. We also will be comparing the data from this study to data from age-matched children with “idiopathic” or non-genetic ASD. This pilot study is currently funded by the Dup15q Alliance, with the infrastructure for behavioral and EEG testing funded by the National Institutes of Health.

Whom do I contact?

Families who wish to learn more about this study, please contact:
Dr. Shafali Jeste
Departments of Psychiatry and Neurology
UCLA David Geffen School of Medicine
Center for Autism Research and Treatment
Los Angeles, CA
(310) 825-0180
Maya Lazar
UCLA Child and Adult Neurodevelopmental Clinic
(310) 794-4008

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 More information can be found on their website –www.prenatalarray.orgView 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)