Rare Disease


These are the organizations in the SynGAP and Rare Disease space that we respect & learn from.

SRF is partnering with Ciitizen to launch a SYNGAP1 Digital Natural History Study to accelerate SYNGAP research, prepare for clinical trials, and support families in their care journey.

Global Genes’ purpose is to connect, empower, and inspire the rare disease community. SRF is grateful for their leadership.

The Personalized Medicine Coalition (PMC), representing innovators, scientists, patients, providers and payers, promotes the understanding and adoption of personalized medicine concepts, services, and products to benefit patients and the health system. Believing that paradigm shifts, especially in medicine, do not happen just because the science and new technologies suggest they should, PMC supports investment in and adoption of personalized medicine through education, advocacy, and evidence development.

The Combined Brain mission is to identify and discuss biomarkers and outcome measures for rare brain disorders, with a specific focus on non-verbal neurodevelopmental disorders.

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

The Epilepsy Leadership Council (ELC) is an organization of nearly 50 professional organizations, disease-specific and patient advocacy organizations, governmental agencies, and professional societies that focus on improving the lives of people with epilepsy.

California Action Link for Rare Diseases Inc. (CAL RARE) is dedicated to improving the lives of rare disease patients in California. We are a coalition of rare disease stakeholders.

Simons Searchlight is an initiative of SFARI that aims to better understand genetic neurodevelopmental conditions, specifically those associated with autism spectrum disorder.

The American Brain Coalition is a nonprofit organization comprised of the United States’ leading professional neurological, psychological, and psychiatric associations and patient organizations. With an established presence in Washington, DC, ABC is a strong and powerful voice for the 50 million people with disabling brain disorders, bringing together organizations that represent concerned and interested patients, families, and professionals.

Genetic Alliance UK works on a variety of issues that UK families and individuals with genetic conditions face.

Rare Disease UK is the national campaign for people with rare diseases and all who support them. Rare Disease UK provides a united voice for the rare disease community by capturing the experiences of patients and families.

SWAN UK (syndromes without a name) is the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.

The Rare Epilepsy Network (REN) is a partnership between rare epilepsy organizations, the Epilepsy Foundation, Columbia University, and Research Triangle International to conduct research to improve outcomes of rare conditions associated with epilepsy and seizures.

The JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases. The JumpStart program works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases.

Patient Worthy® is an online publication that provides relevant information to rare disease patients, caregivers and advocates alike.

Autism BrainNet promotes innovative, high-quality research on postmortem brain tissue with the goal of improving the understanding of the biological causes of autism spectrum disorder (ASD) and related neurodevelopmental conditions.

IVI’s MISSION is to advance the science, practice, and use of value assessment in healthcare to make it more meaningful to those who receive, provide, and pay for care. IVI has a GOAL of building a community to create rigorous, innovative, and relevant methods and translational research that facilitates patient-centered value assessment and emphasizes flexibility and usability for the unique decision contexts of individual decision-makers.

The Black Women’s Health Imperative launched the Rare Disease Diversity Coalition to address the extraordinary challenges faced by rare disease patients of color. The Coalition brings together rare disease experts, health, and diversity advocates, and industry leaders to identify and advocate for evidenced-based solutions to alleviate the disproportionate burden of rare diseases on communities of color.

CRDN creates regional networks improving the lives of people affected by rare diseases.

Breaking Down Barriers aims to address difficulties and inequalities experienced by children with a genetic disorder in accessing mainstream services.

RARE-X is a collaborative platform for global data sharing and analysis to accelerate treatments for rare disease.

Mencap provides support and advice services for people with a learning disability including care and support, advocacy, housing, leisure and employment.

The vision of IndoUSrare is to educate, empower and advocate for diverse patients with rare diseases in the US, India, and globally by building collaborative bridges between the western and eastern geographic silos for stakeholders of rare diseases to maximize diversity, equity, and inclusion in research and development for accelerating the development of diagnostics and therapies.

FasterCures, a center of the Milken Institute, is working to build a system that is effective, efficient, and driven by a clear vision: patient needs above all else. They believe that transformative and life-saving science should be fully realized and deliver better treatments to the people who need them.