Collaborative Knowledge Commons

Focuses on advancing scientific research to develop treatments and a cure for CASK gene disorders, directing 89–91% of annual revenue toward research and studies.

Collects and maintains patient-donated biological samples including blood, tissue, and saliva to support research on CASK gene disorders.

Partners with Probably Genetic to increase access to genetic testing for pediatric epilepsy and developmental disorders within the CASK community.

Funds an annual grants program for research into CASK gene disorders, including support for gene replacement therapy, development of iPSCs and mouse models, biologically active compounds, and at least two small grants following the CASK Think Tank; also raises additional funding for large-scale studies based on small grant outcomes.

Manages a global patient registry to advance understanding of CASK gene disorders and support treatment development.

Convened the first multidisciplinary scientific meeting in December 2023 with 30 scientists to identify key research questions and strategies, and launched the first Request for Applications in January 2024 informed by the CASK Think Tank.

Hosts Roar 2026: The CASK Conference, a two-day event with sessions, meals, networking, licensed on-site childcare, programming for affected individuals and siblings, and bio-sample collection opportunities.

Produces podcast episodes featuring personal experiences with intensive therapy approaches for CASK-related care.

Offers emotional support, information, and shared experiences to families newly diagnosed with CASK gene disorder and connects them with the broader community of parents and family members.

Offers financial support for medical equipment, therapy, treatment, medical bills, home modifications, and events through Connect, powered by SupportNow.

Supports individuals with CASK gene disorders in accessing intensive therapy models that involve high-frequency, consecutive-day sessions followed by breaks.

Provides single-particle and microcrystal electron diffraction services through its Cryo-Electron Microscopy Center to academic, government, non-profit, and industry research organizations.

Implements a modern internet interface that allows users to access images from high-throughput crystallization screening experiments and develops software for automated image analysis and classification to support structural biology research.

Develops and operates a high-throughput facility for macromolecular crystallography that supports structural biology research and accommodates confidential and proprietary equipment. Provides protein crystallization services to academic, government, and non-profit research institutes.

Hosts annual meetings bringing together over 1,200 participants from 35+ countries, including researchers, clinicians, industry representatives, and patient advocates. The meetings facilitate presentation and peer feedback on unpublished research, feature over 80 speakers, and publish reports summarizing scientific advances and collaborations. Events are held both in-person and virtually, with recent meetings in 2025 and 2026.

Maintains a global biorepository with over 50,000 vials of biofluid samples (CSF, blood, urine), postmortem tissues from over 500 ALS cases, and induced pluripotent stem cell (iPSC) lines. Generates multi-omic data (whole-genome sequencing, RNA-seq, proteomics) linked to clinical records. Provides validated antibodies and ALS animal models with unrestricted access for researchers worldwide.

Sponsors targeted discussions and roundtables on emerging topics such as AI in drug discovery, with participation from major industry players including Roche, Lilly Ventures, and insitro, to foster innovation and collaboration across sectors.

58% of funded research consortia have advanced to drug discovery programs. Supported the development of 13 clinical trials through funded research projects, translating laboratory findings into viable treatment pathways.