named programs · 5 · from sources
What they call their work
Charles River Laboratories Drug Repurposing Study
Screening thousands of FDA-approved drugs to identify existing treatments that could be repurposed to improve symptoms of 5p- syndrome.
Digital Natural History Study with Citizen Health
Collaborative study to accelerate research, prepare for clinical trials, and support patient care journeys through digital data collection.
Mazhi Therapeutics & iXCells Biotech Drug Development
Developing antisense oligonucleotide (ASO) therapies to restore CTNND2 gene function in 5p- syndrome patients.
UC Davis Nolta Lab Research
Studying how 5p- syndrome affects brain cell development at the genetic level by comparing stem cells from affected individuals to healthy controls to identify disrupted genes.
UCSF Ahituv Lab Gene Therapy Development
Developing a CRISPR-based gene therapy to restore function of the CTNND2 gene in individuals with 5p- syndrome.
activities · 3 groups
What they do
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Rare Genetic Disease Research and Advocacy 5 activities
- Advocating for 5p- syndrome research advancementAdvocates for increased research focus on Cri du Chat/5p- syndrome to support the development of treatments, including facilitating collaboration between scientists and promoting clinical trial readiness.
- Conducting and supporting natural history studies for 5p- syndromeEnables and supports longitudinal research by collecting medical records, survey data, genetic information, and biospecimens from individuals with 5p- syndrome to accelerate treatment development. Maintains a comprehensive database of affected families to facilitate researcher access and participation in studies.
- Facilitating researcher access to clinical and genetic datasetsProvides qualified researchers with access to standardized, de-identified clinical and genetic datasets from over 100 patients with 5p- syndrome through a partnership with Citizen, including support with IRB applications and data access protocols.
- Maintaining a biorepository and biomaterial resources for 5p- syndrome researchCollects and stores blood and urine samples in a biorepository to support biomarker discovery and conducts sample collection at conferences. Provides researchers with high-quality, well-characterized induced pluripotent stem cell (iPSC) lines derived from 5p- syndrome patients, along with de-identified clinical and genetic data, through a streamlined access process.
- Registering and connecting families affected by 5p- syndromeRegisters families globally to maintain an updated census, connect them with research opportunities, disseminate medical updates, and provide peer support. Also compiles a map of experienced medical providers for use by affected families.
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Genetic and Neurological Disease Research Funding 2 activities
- Funding research on 5p- syndrome treatmentsProvides research grants to laboratories and clinicians worldwide to support the development of therapies for 5p- syndrome, including investigator awards up to $130,000, seed grants up to $25,000, and trainee grants up to $65,000 per year. All funded projects are required to present findings at the foundation's Annual Science Conference.
- Funding specific research projects on 5p- syndrome mechanisms and therapiesDirectly funds targeted research initiatives, including studies at UC Davis on brain cell development, UCSF gene therapy using CRISPR activation, ASO therapy development with Mazhi Therapeutics and iXCells Biotech, and drug repurposing screens at Charles River Laboratories.
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Cancer Awareness and Education Initiatives 1 activity
- Organizing annual awareness and fundraising events for researchHosts an annual event to raise public awareness and funds specifically for drug screening research using brain cells from individuals with 5p- syndrome.
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financials · form 990 · fy2023
revenue
Total revenue$135K
Contributions & grants$135K100%
Program service revenue$00%
Investment income$00%
Other revenue$0
expenses
Total expenses$217K
Program expenses81%
Admin / overhead1%
Fundraising18%
Salaries & benefits$0
Grants paid out$177K
Largest expense lineOther
balance sheet
Total assets$164K
Cash$164K
Investments$0
Liabilities$2K
Net assets$162K
Liquid reserves9.0 mo
3 years on record · 2020–2023 · YoY revenue +791.5%
relationships · 38
Who they work with
- AGENDA Partner — Partners to strengthen collaborations in genetics-first research for neurodevelopmental disorders associated with autism.
- Autism BrainNet Partner — Collaborates to advance research on neurodevelopmental conditions related to 5p- syndrome.
- Boston Children’s Hospital Partner — Collaborates with Dr. Wendy Chung from Boston Children’s Hospital as part of its Scientific Advisory Board.
- Boston Children’s Research Partner — Includes Dr. Maya Chopra from Boston Children’s Research on its Scientific Advisory Board.
- CDCRF Network — Connects families with resources and support through the Cri Du Chat Research Foundation.
- Charles River Laboratories Partner — Funded research collaboration to identify repurposable FDA-approved drugs for 5p- syndrome treatment
- Citizen Partner — Partnership enabling access to de-identified clinical data from over 100 patients with 5p- syndrome.
- Citizen Partner — Partnership to provide researchers with access to a de-identified, standardized dataset on 5p- syndrome patients.
- Citizen Health Partner — Collaborates to collect and use anonymized family data for 5p- syndrome research, with potential compensation to participants when data contributes to therapy development.
- Citizen Health Partner — Engages Elli Brimble and Nasha Fitter from Citizen Health as members of its Scientific Advisory Board.
- Citizen Health Partner — Partnering to launch a 5p- syndrome Digital Natural History Study.
- Colorado State University Partner — Includes Dr. Seonil Kim from Biomedical Sciences at Colorado State University on its Scientific Advisory Board.
- CombinedBrain Partner — Collaborates to identify biomarkers and outcome measures for non-verbal neurodevelopmental disorders including 5p- syndrome.
- FAST Partner — Engages Dr. Edwin Weeber, Head of Research and Discovery at FAST, as a member of its Scientific Advisory Board.
- Genetic Alliance Partner — Works with Genetic Alliance to transform health through genetics and promote open, patient-centered research environments.
- Global Genes Partner — Collaborates with Global Genes to advance rare disease advocacy and support.
- Harvard Stem Cell Institute Partner — Includes Dr. Paola Arlotta from Harvard Stem Cell Institute on its Scientific Advisory Board.
- JumpStart Program Partner — Works with the JumpStart Program to progress research agendas and therapeutic development for 5p- syndrome.
- Matrix Partner — Collaborates to collect and use anonymized family data for 5p- syndrome research, with potential compensation to participants when data contributes to therapy development.
- Mazhi Therapeutics Partner — Funded research collaboration to develop ASO therapies for restoring CTNND2 function in 5p- syndrome
- Megan Leston Partner — Co-founder and family advocate driving the foundation's mission and public engagement
- NC State University Partner — Collaborates with Dr. Albert Keung from NC State University, Department of Chemical & Biomolecular Engineering, via its Scientific Advisory Board.
- NYU Langone Health Partner — Collaborates with Dr. John Pappas from NYU Langone Health, Clinical Genetics, through its Scientific Advisory Board.
- Rare Epilepsy Network (REN) Partner — Partners to conduct research improving outcomes for rare conditions associated with epilepsy and seizures.
- Schwarzman Animal Medical Center Partner — Collaborates with Dr. Allyson Berent from Schwarzman Animal Medical Center through its Scientific Advisory Board.
- Seattle Children’s Hospital Partner — Engages Dr. Kim Aldinger from Seattle Children’s Hospital as a member of its Scientific Advisory Board.
- Simons Foundation Funder — Funds the Simons Searchlight Study focused on genetic and developmental data collection for 5p- syndrome.
- Simons Searchlight Partner — Collaborates to better understand genetic neurodevelopmental conditions associated with autism spectrum disorder.
- Simons Searchlight Partner — Collaborates with Simons Searchlight to provide a family guide for navigating life after a rare genetic diagnosis.
- Simons Searchlight Partner — Partners to collect and analyze data from individuals with 5p- syndrome to accelerate treatment development.
+ 8 more
strategies · 4
How they approach the work
Named approaches extracted from this org’s sources. Where others share an approach, follow it to see the full set of orgs running it.
- Biomarker and Disease Modeling Innovationmethodology: disease_modeling_for_therapeutic_developmentBy developing objective biomarkers (such as distinctive EEG patterns) and using genetically diverse, patient-derived iPSC models, the foundation enables more accurate measurement of disease progression and treatment response because these tools provide scalable, biologically representative platforms for drug screening and therapeutic development.
- Efficiency-Driven Research Funding Modelmethodology: volunteer-run_funding_modelBy operating as a volunteer-run organization that channels all donations directly into research, the foundation maximizes funding efficiency for scientific advancement because minimizing overhead increases the proportion of resources dedicated to actual research activities.
- Patient-Centered Research via Family Engagement and Data Sharingmethodology: patient-centered_researchBy engaging families as active partners in research—through registries, data sharing, and direct connections to scientists—the foundation ensures that research reflects real-world patient needs and is clinically relevant because lived experience improves study design, recruitment, and trial readiness.
- Research Acceleration through Strategic Funding and Collaborationmethodology: research_accelerationBy strategically investing in translational research, funding across the research pipeline (from fundamental biology to clinical readiness), and building collaborative networks among scientists, the foundation accelerates treatment development for 5p- syndrome because coordinated, expert-guided investment de-risks and advances promising scientific pathways more efficiently than isolated efforts.