Alliance for the Genetic Etiologies of Neurodevelopmental Disorders an Autism

The mission of AGENDA is to improve outcomes for individuals with all forms of autism by fostering a genetics-first approach to autism and neurodevelopmental disorders research, and by strengthening collaborations among organizations representing genetically-defined disorders associated with neurodevelopmental disorders and autism.

This is done through:
Cooperation across groups and sharing of best practices, challenges, obstacles and how they were overcome. We do this through biweekly meetings. Members are transparent about their ongoing activities and what they need from each other. This avoids duplication of efforts and helps each organization focus on the families, rather than issues that are of concern across groups.

Collaboration on grants,  maintenance and expansion of group registries, and issues that affect people and families across disorders such as gastrointestinal and sleep difficulties, and understanding how the pandemic has affected these families.

Improved Communication to stakeholders around issues that are cross-cutting among genetic disorders. This includes sharing novel ways of working with families, advocacy, and holding joint information sharing sessions that are available to multiple communities.

Methods to improve clinical care for families of rare genetic disorders, regardless of the genetic diagnosis itself, starting from preclinical research moving to clinical trials.

Three collaborative organizations that embody the spirit of AGENDA will be highlighted, specifically:

1.  The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders  (COMBINEDBrain) is devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders by pooling efforts, studies and data. They are  a non-profit consortium led by patient advocacy foundations, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent.  Physicians can read more about these projects at www.combinedbrain.org.

2.  Global Genes is a 5013c that provides hope for the more than 400 million people affected by rare disease around the globe. They fulfill our mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf.   Global Genes was born to connect, empower and inspire the rare disease community.   Part of their program includes an active website, podcasts, a clinical trials hub, and a portal which is a community for patients, caregivers, members of non-profit patient advocacy organizations, and academia.

3.  The International Rett syndrome Foundation continues their almost 40-year commitment to creating a world without Rett.  They remain focused on accelerating research to treat and cure Rett syndrome as we empower families with information, knowledge, and connectivity.   In the past 40 years they have: Funded the discovery of the gene that causes Rett syndrome (MECP2),  funded the discovery of reversibility of Rett syndrome in mice, funded early gene therapy work in Rett syndrome, funded the first Rett syndrome clinical trial, funded the development of the first Phase 3 clinical trial, convened parents and experts to publish the Rett Syndrome Handbook and designated 18 Rett Syndrome Centers of Excellence.  Pediatricians who see families with Rett syndrome can view their website at www.rettsyndrome.org to learn more about Rett and the supports and services and experts needed to help these individuals.