New Consortium of Research and Advocacy Organizations to Encourage Genetics-First Approach to Autism Research

AGENDA’s First Initiative is a Unified Registry of Family Data

NEW YORK, NY (October 17, 2018) – The Autism Science Foundation (ASF), a not-for-profit organization dedicated to catalyzing innovative autism research, together with the Dup15q Alliance, the FRAXA Research Foundation, the Phelan-McDermid Syndrome Foundation, the Rett Syndrome Research Trust, the Tuberous Sclerosis Alliance, and the Simons Variation in Individuals Project, today announced that it will be leading the newly-launched Alliance for Genetic Etiologies of Neurodevelopmental Disorders and Autism (AGENDA). This alliance is a partnership of research and advocacy organizations focused on improving outcomes of individuals with all forms of autism by fostering a genetics-first approach to autism science. AGENDA will also work to strengthen collaborations among organizations representing genetically-defined disorders associated with autism. Alycia Halladay, Ph.D., chief science officer of the Autism Science Foundation, is serving as the program manager of AGENDA. These organizations represent the founding members of the Alliance. Other participating AGENDA organizations include Autism Speaks and the FamilieSCN2A Foundation.

As part of its collaborative activities, today AGENDA launched a new online portal that will make it easier for researchers to investigate different forms of autism. This resource will harmonize and standardize different types of questions from patient registries and offer a single location to inform users about how to access these registries of family data. For researchers, this eliminates a barrier to understanding cross-syndrome comparisons to autism and provides greater access to patient registries in different forms of autism. The group is also working together to agree on common data elements and standards so that other advocacy organizations do not have to start from scratch when they want to establish a registry. Clinicians, basic scientists, industry, and multiple end users of this information were consulted on the development of the portal, which along with contact information to access the data in each registry, can be found here.

“This new online portal will be enormously helpful to researchers who want to understand the role of rare variant genetic variants in autism and other neurodevelopmental disorders, but who were discouraged by the disparate resources available for study,” said Stephan Sanders, BMBS, Ph.D., a geneticist in the Department of Psychiatry at UCSF, who is not directly involved in the project.

Shafali Jeste, M.D., a researcher and clinician who works with AGENDA and sees families at the Center for Autism Research and Treatment at UCLA, added: “In order to make the necessary strides in research around rare genetic syndromes associated with autism, as well as idiopathic forms of autism, we must partner with advocacy groups to build patient-centered databases. These repositories will ultimately improve our clinical understanding of these conditions and improve clinical trials. The incredible work being done by AGENDA really lays the foundation for these collaborative efforts.

“AGENDA is a remarkable and unique collaboration in autism research,” said Dr. Halladay. “It tackled this initial project because, while each form of autism is unique, new interventions in one form of autism might be used for those in which there is no known genetic cause. This collaborative approach benefits the entire autism community.”

About the Autism Science Foundation:
The Autism Science Foundation (ASF) is a 501(c)(3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting autism research. ASF also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism. To learn more about the Autism Science Foundation or to make a donation, visit

About the Dup15q Alliance:
Dup15q Alliance provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome. Through our work to raise awareness and promote research into chromosome 15q duplications, we seek to find targeted treatments so that affected individuals can live full and productive lives. Together with our families, Dup15q Alliance is working towards a better tomorrow for children with chromosome 15q11.2-13.1 duplication (dup15q) syndrome. For more information, go to:

About FRAXA Research Foundation:
FRAXA is the largest non-profit organization in the world dedicated to developing treatments for fragile X syndrome, otherwise known as the FRAX(A) mutation, the most common genetic cause of intellectual disabilities and autism, affecting approximately 1 in 4,000 people worldwide. FRAXA was founded in 1994 by fragile X parents, and is still run entirely by fragile X parents. More than $27 million of direct research funding by FRAXA has led to many large-scale, international clinical trials of potential new therapeutics for people of all ages with fragile X. To learn more about fragile X and FRAXA, please visit

About the Phelan-Mcdermid Syndrome Foundation:
The Phelan-McDermid Syndrome Foundation(PMSF), a 501(c)3 nonprofit organization, is a rare disease advocacy group whose mission is to provide family support, raise awareness, and accelerate research through increasing patient engagement and building strategic alliances. Since its inception in 1998, PMSF has established itself as the leading organization worldwide dedicated to improving the lives of those affected by Phelan-McDermid Syndrome. For more information about the Phelan-McDermid Syndrome Foundation and their work, visit

About the Rett Syndrome Research Trust:
The Rett Syndrome Research Trust (RSRT) is a nonprofit organization with a highly personal and urgent mission: a cure for Rett Syndrome and related MECP2 disorders. RSRT operates at the nexus of global scientific activity enabling advances in knowledge and driving innovative research. In March of 2017 RSRT announced Roadmap to a Cure, a three-year, $33 million strategic research plan. The plan, for which $18 million has been pledged or contributed by generous donors, prioritizes four curative approaches with gene therapy as our lead program. In June of 2017 the biotechnology company, AveXis, announced its intent to advance RSRT’s gene therapy program to clinical trials. Since 2008, RSRT has awarded $47 million to research. To learn more, please visit

About the Tuberous Sclerosis Alliance:
The Tuberous Sclerosis Alliance is the only US-based non-profit organization dedicated to finding a cure for tuberous sclerosis complex (TSC), while improving the lives of those affected. Affecting 50,000 in the US and 1 million worldwide, TSC is genetic disorder that causes tumors to form in vital organs; it’s also a leading genetic cause of both epilepsy and autism. For more information, please visit

About the Simons Foundation Autism Research Initiative:
Launched in 2003, SFARI is a scientific initiative within the Simons Foundation’s suite of programs. SFARI’s mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance. Simons Variation in Individuals Project (Simons VIP) aims to identify and study large numbers of individuals sharing recurrent genetic variants known to increase the risk of developing autism spectrum and other neurodevelopmental disorders. For more information, please visit

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