irs program accomplishments · form 990 part iii · fy2024
What they reported doing
- #1 primary $272K
named programs · 3 · from sources
What they call their work
CSA Gene Replacement Therapy Project
Pre-clinical research at the University of Massachusetts Chan Medical School to develop an AAV9-based gene therapy for mutations in the CSA/ERCC8 gene, aiming to advance to human clinical trials
Drug Repurposing Projects
Collaborative screening initiatives with Rarebase, Leiden University Medical Center, and Charles River Laboratories to identify FDA-approved drugs that may halt or reverse neurodegeneration in Cockayne Syndrome
GDF15 Biomarker Study
Planned clinical study to assess GDF-15 serum levels in children with Cockayne Syndrome, based on preclinical evidence linking elevated GDF-15 to failure to thrive and cachexia
activities · 3 groups
What they do
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Rare Genetic Disease Research and Advocacy 6 activities
- Advancing drug repurposing research for rare diseasesPartners with Rarebase to conduct drug repurposing screens for Cockayne syndrome using the Rarebase Function platform to identify potential therapeutic candidates.
- Conducting and supporting pre-clinical gene therapy researchSupports pre-clinical gene therapy development for Cockayne syndrome, including launching a CSA gene replacement therapy program at the University of Massachusetts Chan Medical School and funding studies using CSA/XPA double knockout mouse models.
- Delivering experimental gene therapy for Cockayne SyndromeDelivered experimental gene therapy to the first child in the world diagnosed with Cockayne syndrome, marking a milestone in translational research for the condition.
- Engaging scientific advisors for research guidanceEngages medical and scientific professionals as advisors to support research direction and organizational mission in advancing treatments for rare genetic disorders.
- Operating a patient registry for Cockayne SyndromeOperates a HIPAA-protected and GDPR-compliant global patient registry in partnership with Sanford CoRDS, collecting demographic, diagnostic, and patient-reported data from families affected by Cockayne Syndrome, with participants retaining data ownership and the ability to withdraw at any time. Assigns Global Unique Identifiers to enable secure, de-identified data sharing with approved researchers.
- Studying biomarkers for Cockayne SyndromeInitiated a study to assess GDF-15 serum levels in children with Cockayne Syndrome to evaluate potential therapeutic implications and inform future treatment development.
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Disease-Specific Clinical & Patient Education 1 activity
- Amplifying patient stories to raise rare disease awarenessProduces and shares personal narratives through a podcast series ('Rare Diseases, Real Stories') and guest blog posts from caregivers to document diagnostic journeys, support community connection, and influence stakeholders in rare disease research.
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Genetic and Neurological Disease Research Funding 1 activity
- Funding research for genetic disordersFunds research proposals and novel research projects focused on gene therapy, gene editing, and drug repurposing for Cockayne syndrome and other severe genetic disorders, supporting the translation of medical advancements into potential treatments.
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financials · form 990 · fy2024
revenue
Total revenue$616K
Contributions & grants$516K84%
Program service revenue$00%
Investment income$99K16%
Other revenue$0
expenses
Total expenses$279K
Program expenses98%
Admin / overhead2%
Fundraising0%
Salaries & benefits$0
Grants paid out$252K
Largest expense lineProfessional Fees
balance sheet
Total assets$1.81M
Cash$1.81M
Investments$0
Liabilities$1.11M
Net assets$693K
Liquid reserves77.7 mo
4 years on record · 2021–2024 · YoY revenue -30.8%
leadership · form 990 part vii · fy2024
Who runs it
board members · 4
- AASEES KAUR — TREASURER
- AJIT SINGH — SECRETARY
- ANNA SACHAR — BOARD MEMBER
- GURJOT KAUR — FOUNDER/CHAIR
relationships · 19
Who they work with
- Brianna Marquez Partner — Guest contributor sharing her child’s diagnostic journey with Cockayne Syndrome.
- Dr. Alisha Gruntman Partner — Designed the first known rAAV-CSA vector for the CSA gene replacement therapy project.
- Dr. Karen Lim Partner — Scientific Advisory Board member and contributor to Riaan Research Initiative's mission.
- Dr. Miguel Sena Esteves Partner — Co-Principal Investigator leading the CSA gene replacement therapy research at University of Massachusetts Chan Medical School.
- Dr. Rita Batista Partner — Co-Principal Investigator on the CSA gene replacement therapy project at University of Massachusetts Chan Medical School.
- Dr. Terence Flotte Partner — Dean of University of Massachusetts Chan Medical School and member of the CSA gene replacement therapy research team.
- Facebook Partner — Collects social media handles including Facebook from patient families.
- Global Genes Network — Member of the Global Genes’ RARE Foundation Alliance.
- Hoong Chuin Lim Partner — Scientific advisor to Riaan Research Initiative.
- Instagram Partner — Collects social media handles including Instagram from patient families.
- Leiden University Medical Center Partner — Scientific collaboration through reagent, method, and idea exchange for Cockayne syndrome research.
- OpenTreatments Foundation Partner — Endorsed and recognized Riaan Research Initiative's efforts in accelerating treatment development for rare diseases.
- Rarebase Partner — Partnership to conduct a drug repurposing screen for Cockayne Syndrome using Rarebase's Function platform.
- Sanford CoRDS Partner — Collaborates to develop and manage the global patient registry for Cockayne Syndrome.
- TikTok Partner — Collects social media handles including TikTok from patient families.
- Twitter Partner — Collects social media handles including Twitter from patient families.
- UMass Chan Medical School Partner — Collaborated on the production and distribution of the 'Rare Diseases, Real Stories' podcast series.
- University of Massachusetts Chan Medical School Partner — Collaborates on the pre-clinical development of CSA gene replacement therapy, including studies in CSA/XPA mouse models.
- Winty Singh Partner — Cyclist participating in a fundraising campaign to support clinical trial costs for Cockayne syndrome therapy.
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.
- Gene-Replacement Therapy Developmentmethodology: gene-replacement-therapyBy advancing gene replacement therapy—specifically delivering functional copies of the CSA/ERCC8 gene via AAV vectors—we aim to correct the underlying genetic defects causing Cockayne Syndrome, because this targeted correction addresses the root cause of the disease and enables functional recovery at the cellular level.
- Patient and Caregiver-Informed Research Prioritizationmethodology: patient_reported_research_prioritizationBy integrating patient-reported data and direct caregiver input, we identify research priorities and support needs, because lived experience provides critical insight into the most impactful therapeutic targets and quality-of-life interventions for Cockayne Syndrome.
- Story-Based Advocacy for Research Mobilizationmethodology: story-based advocacyBy using personal storytelling, we generate awareness, empathy, and action among researchers, funders, and policymakers, because emotional engagement through narrative increases motivation to invest in and prioritize underfunded rare disease research.
- Translational Research Accelerationmethodology: translational_researchBy funding and advancing high-potential research that bridges laboratory discoveries to clinical applications, we accelerate treatment development for severe genetic disorders, because shortening the bench-to-bedside timeline increases the likelihood of timely therapeutic intervention for rapidly progressing conditions like Cockayne Syndrome.