Children's Rare Disease Collaborative
The Children's Rare Disease Collaborative (CRDC) is a multidisciplinary research and clinical initiative based at Boston Children's Hospital that conducts genomic research on rare pediatric diseases. Established in 2019, the collaborative integrates genomic sequencing, standardized clinical phenotyping, functional genomics, and shared research infrastructure to study conditions that are often difficult to diagnose using conventional clinical approaches.[1]
Rare diseases individually affect small patient populations but collectively represent a significant public health burden. Many such conditions have a genetic basis and are associated with prolonged diagnostic evaluation. The CRDC was created to coordinate rare disease research activities across Boston Children's Hospital and to facilitate the systematic application of genomic methods within pediatric research and clinical evaluation.[2][3]
History and organization
The CRDC was launched in 2019 as a hospital-wide effort to connect rare disease research across multiple clinical divisions at Boston Children's Hospital. The initiative was structured to support collaboration among subspecialty clinicians, laboratory scientists, computational researchers, and patient families through shared genomic and data resources. Oversight is provided through institutional governance structures and multidisciplinary leadership aligned with hospital research and pediatric care priorities.
The collaborative functions as an umbrella organization supporting disease-specific research cohorts and cross-cutting genomic initiatives. More than 100 physician-scientists, representing approximately 30 clinical divisions, participate in CRDC-affiliated studies, reflecting its broad institutional scope.[1]
Scope of rare diseases
The CRDC supports research across more than 65 rare pediatric disease areas, spanning a wide range of medical specialties. These include neurological and neurodevelopmental disorders, immunologic and inflammatory diseases, hematologic and bone marrow failure syndromes, metabolic and endocrine conditions, genetic syndromes, and rare gastrointestinal, cardiovascular, and sensory disorders.
The collaborative also includes programs focused on undiagnosed or complex cases, involving patients who have undergone extensive prior evaluation without a definitive diagnosis. These cases are aggregated for research analysis using advanced genomic approaches, with the aim of identifying candidate genetic mechanisms or novel disease associations.[1][2][3]
Research model and methods
CRDC-affiliated studies commonly employ exome sequencing, genome sequencing, long read genome sequencing and RNA sequencing, along with targeted molecular assays and functional studies when indicated. Genomic data are analyzed in conjunction with standardized clinical phenotypes, allowing for systematic interpretation and periodic reanalysis as scientific knowledge evolves.
Patients are typically referred to CRDC-associated studies by treating clinicians and enrolled following informed consent. When research findings have potential clinical relevance, results may be confirmed in clinical laboratories and communicated to families with appropriate genetic counseling. Patients without an initial diagnosis may remain enrolled for ongoing research analysis or future studies, reflecting a longitudinal research framework.[4]
Scale and reported outcomes
According to published reports, the CRDC has enrolled more than 13,000 participants (patients and family members) across over 65 rare disease research areas and its integrated research–clinical genomic ecosystem now includes data from over 21,000 families comprising more than 47,000 sequenced individuals and continues to enable rapid translation of genomic findings into clinical care. Research genomic sequencing conducted through CRDC-associated studies has identified diagnostic genetic variants in approximately 15% of enrolled patients, with an additional proportion yielding candidate findings undergoing further investigation. Some reported diagnoses have been associated with subsequent changes in clinical evaluation, counseling, or management.[3]
CRDC-affiliated research has also contributed to the identification of novel gene–disease associations and to the evaluation of genomic technologies in pediatric rare disease populations.
Relationship to therapeutic research
By identifying genetic diagnoses, assembling disease-specific cohorts, and supporting natural history studies, the CRDC provides research infrastructure that may support therapeutic research programs conducted by Boston Children's Hospital faculty. Genomic findings generated through CRDC-associated studies have been used to inform subsequent investigations into disease mechanisms and potential treatment strategies.
Published case reports and studies from Boston Children's Hospital have described individualized therapeutic approaches informed by genetic diagnoses, including antisense oligonucleotide–based interventions and gene-editing strategies developed by faculty investigators. These efforts are conducted through disease-specific research programs and clinical trials, with CRDC-supported genomic research contributing to patient identification and molecular characterization.[5]
Collaboration with the Manton Center
The CRDC works in coordination with the Manton Center for Orphan Disease Research at Boston Children's Hospital, which focuses on gene discovery and functional studies of rare diseases. The Manton Center's research programs and CRDC-supported cohorts are linked through shared leadership and collaborative research activities. This structure enables coordination between gene discovery, cohort assembly, and downstream biological investigation.[6]
International collaboration (IPCHiP)
Boston Children's Hospital is a founding participant in the International Precision Child Health Partnership (IPCHiP), a multinational collaboration involving pediatric research institutions in North America, Europe, and Australia. IPCHiP aims to advance precision medicine for rare pediatric diseases through coordinated genomic studies and shared research approaches. Boston Children's participation in IPCHiP projects is supported through institutional research infrastructure, including programs affiliated with the CRDC.
IPCHiP projects have included international studies evaluating rapid genome sequencing in acutely ill infants and children, with contributions from Boston Children's researchers through patient enrollment, sequencing, and data analysis.[7]
Patient and family engagement
The CRDC incorporates patient and family engagement through structured advisory activities. A Patient and Family Advisory Group provides input on research priorities, consent processes, communication of results, and community engagement initiatives, reflecting broader practices in patient-centered research.
In 2025, the CRDC hosted the Pediatric Rare Disease Summit, which brought together patients, families, clinicians, researchers, and advocacy organizations for presentations and discussions related to rare disease research and care. Subsequent institutional activities included expanded outreach and advisory efforts informed by summit discussions.
Comparison with other genomic initiatives
The CRDC shares features with other large-scale genomic research initiatives but differs in its focus on pediatric populations, its integration within a single academic children's hospital, and its emphasis on rare disease research. In contrast to population-based genomic programs, the CRDC operates as an ongoing, institution-based collaborative embedded within pediatric research and clinical environments, while also contributing to national and international research networks.[1][2][3]
See also
References
- ↑ 1.0 1.1 1.2 1.3 "Children's Rare Disease Collaborative | Boston Children's Research". research.childrenshospital.org. Retrieved 2026-02-09.
- ↑ 2.0 2.1 2.2 Rockowitz, Shira; LeCompte, Nicholas; Carmack, Mary; Quitadamo, Andrew; Wang, Lily; Park, Meredith; Knight, Devon; Sexton, Emma; Smith, Lacey; Sheidley, Beth; Field, Michael; Holm, Ingrid A.; Brownstein, Catherine A.; Agrawal, Pankaj B.; Kornetsky, Susan (2020-07-06). "Children's rare disease cohorts: an integrative research and clinical genomics initiative". npj Genomic Medicine. 5 (1): 29. doi:10.1038/s41525-020-0137-0. ISSN 2056-7944.
- ↑ 3.0 3.1 3.2 3.3 French, Courtney E.; Andrews, Nancy C.; Beggs, Alan H.; Boone, Philip M.; Brownstein, Catherine A.; Chopra, Maya; Chou, Janet; Chung, Wendy K.; D’Gama, Alissa M.; Doan, Ryan N.; Ebrahimi-Fakhari, Darius; Goldstein, Richard D.; Irons, Mira; Jacobsen, Christina; Kenna, Margaret (2024-12-02). "Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes". npj Genomic Medicine. 9 (1): 60. doi:10.1038/s41525-024-00441-9. ISSN 2056-7944.
- ↑ "Newsroom | Changing Lives Through Genetics: The Children's Rare Disease Collaborative". www.childrenshospital.org. Retrieved 2026-02-09.
- ↑ Dies, Kira; Yu, Timothy; Chamberlain, Nancy; Holm, Ingrid; Beggs, Alan; Kennedy, Kerri; Fleming, Judith; Pomeroy, Scott; Urion, David; Srivastava, Siddharth (January 12, 2026). "The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development". Neurology® Journals. doi:10.1212/WNL.0000000000214610. PMC 12805582 Check
|pmc=value (help). PMID 41525567 Check|pmid=value (help). Retrieved 2026-02-10. - ↑ "Manton Center for Orphan Disease Research". research.childrenshospital.org. Retrieved 2026-02-09.
- ↑ Howell, Katherine B.; White, Susan M.; McTague, Amy; D’Gama, Alissa M.; Costain, Gregory; Poduri, Annapurna; Scheffer, Ingrid E.; Chau, Vann; Smith, Lindsay D.; Stephenson, Sarah E. M.; Wojcik, Monica; Davidson, Andrew; Sebire, Neil; Sliz, Piotr; Beggs, Alan H. (2025-02-27). "International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease". npj Genomic Medicine. 10 (1): 13. doi:10.1038/s41525-025-00474-8. ISSN 2056-7944.
External links
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