Dup15q Alliance Research Grant Program
Researchers funded by the Dup15q Alliance have a strong history of obtaining additional funding, principal investigators who received funding (>$400,000) from the Dup15q Alliance subsequently garnered an additional $2.5 million from the NIH for dup15q syndrome-related research.
The DREAM (Dup15q Research Engagement, Activities, and Mechanisms) Fund grant program supports new and established investigators working on translational projects to facilitate progress in drug target identification and development. This funding opportunity is open to investigators at established academic or research institutions. Researchers residing in the United States do not need to be U.S. citizens to apply for funding.
Dup15q Alliance Indirect Costs Policy
For research grants, including postdoctoral fellowships, the Dup15q Alliance does not provide indirect costs. (Policy Adopted 7/17/2014 in organizational bylaws and guidelines)
For questions please contact research@dup15q.org.
Dup15q Alliance Grant Recipients
Dr. Alon Zaslaver
Project Title: A comprehensive functional analysis of Dup15q genes: phenotypic effect and treatment following restoration
Project Dates: 2/1/25 – 1/31/26
Grant: $47,038 (Co-funded by Dup15q Alliance and Orphan Disease Center at UPenn through Million Dollar Bike Ride)
Summary: Dup15q syndrome is caused by increased expression of genes in the duplicated region of chromosome 15. Since Dup15q syndrome diagnoses occur after birth, many neurodevelopmental deficits have already developed during pregnancy. The proposed work will use a nematode roundworm model to identify combinations of Dup15q genes that affect neurodevelopment. Next, they will measure how decreasing many Dup15q genes’ expressions in adult roundworms improves neural activity and behavior. By testing combinations of genes, Dr Zaslaver’s group seeks to pave the way for multi-gene therapeutic approaches in Dup15q syndrome.
Dr. Matthew Judson
Project Title: Pilot project to accelerate the evaluation of ASOs to treat Dup15q syndrome
Project Dates: 1/1/25 – 12/31/25
Grant: $50,000 (DREAM grant)
Summary: Dup15q syndrome symptoms are often more severe when extra gene copies are maternally inherited rather than paternally inherited. Since UBE3A is the only gene in the region expressed exclusively from maternal DNA, UBE3A overexpression is likely a driver of Dup15q syndrome pathophysiology. The proposed work will assess how reducing high Ube3a expression in a Dup15q syndrome mouse model could improve behavioral deficits. By using an antisense oligonucleotide (ASO), Dr. Judson’s pilot studies will provide valuable insight to the dosage, duration, and route of administration for a UBE3A gene therapy.
Dr. Natalia DeMarco-García
Dr. De Marco is an assistant professor of neuroscience in the Brain and Mind Research Institute at Weill Cornell Medical College. She earned her B.S. in molecular genetics and biotechnology from the University of Buenos Aires and her Ph.D. in neurobiology and behavior at Columbia University.
Project Title: An in vivo strategy to study the impact of GABRB3 mutations on the development of cortical circuits
Project Dates: 2024 – 2025
Grant: $25,000
The proposed experiments will assess the impact of high-risk ASD mutations at the human chromosome 15q locus on the maturation of GABAergic circuits. The work aims to uncover how early GABAergic dysfunction, including copy number variation at the critical region on 15q, leads to lasting neuropathologies such as Dup 15q syndrome. This project will further our understanding of how GABAergic activity affects early brain maturation during critical periods of development and how this process goes awry in neurodevelopmental disorders, leading to impaired behavior. Results will provide preliminary insight into how increased Gabrb3 manifests as Dup15q syndrome to assess its potential as a future drug target.
Dr. Jason Yi
Jason Yi, PhD is an Assistant Professor of Neuroscience at Washington University School of Medicine. His research focuses on understanding the molecular pathways involved in nervous system development and function, particularly in the context of autism spectrum disorders (ASD).
Project Title: Deep phenotyping of mouse models of UBE3A gain-of-function
Project Dates: February 1, 2024 – January 31, 2025
Grant: $47,158.00 (Co-Funded by Dup15q Alliance and The Orphan Disease Center at Upenn)
Summary: Dup15q syndrome is caused by a duplication or triplication of maternal chromosome 15q11-13 whereas individuals with paternal duplications are typically developing. There are more than 20 genes within chromosome 15q11-13, but among them, Ube3a is the only gene expressed exclusively from the maternal allele in neurons. These observations strongly suggest that excessive UBE3A protein activity is the major driver of disease phenotypes in Dup15q syndrome. This proposal will perform deep phenotypic analysis of an allelic series of mice that possess gain-of-function mutations in Ube3a of increasing severity. By doing so, our study will identify specific phenotypes in mice that are caused by excessive UBE3A protein activity. These studies will provide valuable models and information that can be leveraged to design therapeutic strategies for this disorder.
Dr. Gilles Travé

Grant: $100,000 annually ($200,000 total) * This research project is jointly funded by Dup15q Alliance and Angelman Syndrome Foundation.
Summary: UBE3A is a protein that tags other proteins to be disposed of in the cell. It interacts with another protein, HERC2, which also has a similar function. Individuals with both copies of HERC2 deleted have a neurodevelopmental disorder with features similar to Angelman syndrome.
Dr. Trave will study the interaction between UBE3A and HERC2 to regulate important genes for neurodevelopment and better understand how UBE3A and HERC2 work together.
This study aims to:
- Create the first 3D structure of full-length UBE3A with and without HERC2
- Determine the other proteins that interact with the UBE3A/HERC2 complex
This should help future studies better understand how UBE3A works with HERC2 to impact brain development.
Dr. Ype Elgersma
Ype Elgersma is a professor at the Erasmus University Medical Center in Rotterdam, and the scientific director of the ENCORE Expertise Centre for Neurodevelopmental Disorders. His laboratory focuses on molecular and cellular mechanisms underlying neurodevelopmental disorders
Project Title: Characterization of a Novel Dup(Atp10a-Tub5gcp5) ‘Dup15q’ Mouse Model with Varying Levels of UBE3A
Project Dates: 2023 – 2024
Grant: $50,000
Dup15q syndrome is a neurodevelopmental disorder caused by duplications of a region on chromosome 15, often resulting in intellectual disability and intractable epilepsy. Recent findings indicate that the symptoms may be caused by an interaction of the UBE3A (Ubiquitin Protein Ligase 3A) gene with other genes in the duplicated region. However, the precise interaction between UBE3A and the other duplicated genes is unclear. Dr. Elgersma’s team proposes to develop a new mouse model to study the interaction and dose effect of these genes. If successful, this project will generate a novel representative mouse model of Dup15q syndrome which will be an important tool to study the syndrome as well as to test potential therapies in the future.
The one-year grant is funded in partnership with CURE Epilepsy, whose portion is sponsored by the Robert Withrow Wier Fund.
Dr. Ben Philpot

Project Title: Exploration of critical periods for UBE3A overexpression in Dup15q syndrome and ASD
Project Dates: 2019 – 2021
Grant: $50,000 annually ($100,000 total)
Abstract: Dup15q syndrome accounts for 1-3% of all autism spectrum disorders and carries significant risk for seizures, which can be lethal. Individuals with Dup15q inherit extra copies – usually 1 or 2 – of genes within the 1511.2- q13 chromosome region. It is unclear which of these contributes to the disorder, or how they increase risk for seizures, but UBE3A has emerged as a primary candidate gene. We will generate new mouse models for the study of how extra UBE3A copies confer risk for seizures. Our mice will carry 1 or 2 extra Ube3a copies, mirroring the UBE3A overdosage observed in Dup15q. Using these models, we will study key aspects of seizure expression: 1) initial responses to seizure-causing drugs (seizure threshold), (2) responses to repeated, recurrent seizures (epilepsy), and (3) lethality during seizures, which could help us to model sudden unexpected death in epilepsy (SUDEP), a serious risk for individuals with Dup15q. We will also perform electroencephalograpy (EEG) on our mice to determine if UBE3A overdosage produces changes in brain rhythms that are seen in the Dup15q population. Our project will yield insights into the relationship between a key Dup15q gene and the debilitating seizures plaguing individuals with the disorder, and in the process, provide outstanding training opportunities in seizure behavior and in vivo electrophysiology. Importantly, our models will be applicable to the study of any relevant Dup15q phenotypes, and they will feature reversible Ube3a overexpression, so that the therapeutic benefits of returning Ube3a to normal levels can be explored.
Dr. Charlotte DiStefano

After receiving a B.S. in Special Education from New York University and an Ed.M. in Mind Brain and Education from Harvard University, Dr. Charlotte Distefano received her Ph.D. in Psychological Studies in Education from UCLA. She completed her postdoctoral training at the UCLA Center for Autism Research and under the mentorships of Drs. Connie Kasari and Shafali Jeste. Before earning her Ph.D., Dr. DiStefano worked as a special education teacher with children with ASD, in both New York City and Los Angeles.
Clinically, Dr. DiStefano sees patients in the Child and Adult Neurodevelopmental Clinic, and the Developmental Neurogenetics Clinic. She provides assessment and evaluation of children with ASD and related neurodevelopmental disorders, as well as treatment consultations regarding language and communication development.
Grant: $25,000
Summary: This study will employ a telehealth model to conduct remote assessment of developmental and clinical characteristics of children with dup15q syndrome, and evaluate the feasibility, sensitivity and test-retest reliability of the measures. We will use the Parent-Administered NeuroDevelopmental Assessment Box (PANDABox), atelehealth-based assessment battery for children with rare syndromes, along with the Brief Observation of Social Communication Change (BOSCC). PANDABox integrates experimental methods (e.g. automated monitoring of heart rate, vocalizations) with parent-led between ages 2-10 (interstitial and isodicentric), who are ambulatory and use no or minimal spoken language. Participants will complete two initial remote assessment batteries, within one week of each other. These assessments will be used to examine test-retest reliability. Participants will then complete a third remote assessment battery, approximately 6 months later. This time point will be used to examine change over time in the experimental variables. Data from all three time points will be used to examine feasibility and tolerability of the experimental measures. Based on the funding provided, we will be able to create two PANDABox kits. We anticipate that the initial two time points will require the kits to be in use for three weeks (two allow the family to complete two assessment sessions), while the final time point will require the kits to be in use for two weeks. This timeline will allow us to collect and analyze data from 10 families within the funding period, which is sufficient to complete
the proposed pilot testing.