Children's Rare Disease Collaborative

At Boston Children’s Hospital, we are dedicated to advancing the understanding and treatment of rare diseases. A rare disease affects fewer than 200,000 people. These diseases can be genetic, infectious, or degenerative, and they often present unique challenges in diagnosis and treatment. 

About the CRDC

The Children’s Rare Disease Collaborative (CRDC), established at in 2018, is a Boston Children’s Hospital-wide initiative that involves over 100 physician–scientists as well as patient families. The collaborative has been shaped by the leadership of Drs. Piotr Sliz and Shira Rockowitz, with support from a handful of faculty leaders including Ann Poduri, Alan Beggs (The Manton Center for Orphan Disease Research), and Janet Chou, and others. The CRDC is dedicated to identifying the genetic causes of rare diseases, translating discoveries into research-informed care, and providing families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies. For the full history and description of the projects, please see the following two publications (npj Genomic Medicine 2020, npj Genomic Medicine 2024).

Some patients may find that their rare disease does not fit into one specific area. Other patients may have ultra-rare diseases, which affect fewer than one person for every 50,000 people. Below is a list of rare diseases studied by the CRDC, categorized by medical specialty.

The Children’s Rare Disease Collaborative (CRDC) is a unique partnership uniting physician–scientists, data scientists, and patient families to accelerate discovery and improve outcomes for children with rare diseases.

Together, we strive to uncover the genetic and biological mechanisms that underlie rare conditions and to advance the development of new diagnostics and therapies using cutting-edge technologies.

CRDC Faculty

The CRDC Faculty includes more than 70 physician–scientists who coordinate the individual patient cohorts that make up the Collaborative. This diverse group of investigators meets monthly to share research updates, explore new collaborations, and guide strategic priorities.

Most CRDC faculty hold appointments at Harvard Medical School and practice across nearly 30 departments and divisions at Boston Children’s Hospital.

To learn more about their work, please visit the specific rare disease pages for faculty listings and program details.

CRDC Patient and Family Advisory Council (PFAC)

The CRDC Patient and Family Advisory Council (PFAC) was established following the inaugural CRDC Conference in April 2025 to ensure that the voices of patients and families are central to shaping the future of the Collaborative.

Following the conference, the CRDC leadership team partnered with three dedicated family members — Ellie A. Hammer, CFP®, CPFA®, Lucia Huerta, BSIE, MS, and Erin Ward, MEd, CAS — to co-develop the council’s vision and strategic plan. Over the summer of 2025, this joint provider–family team met regularly to define the PFAC’s mission, goals, and structure.

The first PFAC meeting, held in September 2025, brought together 30 patient, family, and caregiver representatives from across the CRDC research community.

PFAC members contribute their lived experiences to guide CRDC priorities, strengthen patient–provider collaboration, and enhance community engagement. The council meets monthly and will launch quarterly educational webinars beginning in January 2026. PFAC members will also help plan the next CRDC Conference, scheduled for October 9, 2026 — save the date!

If you are a patient or family member involved in rare disease research through the CRDC and would like to connect with the PFAC, please complete the CRDC Family Engagement Survey.

CRDC Team

The CRDC Team includes members of BCH Research Informatics, along with external collaborators and data analysts. The team manages data coordination, including sequencing data returns from partners such as GeneDx, PacBio, and Oxford Nanopore, and maintains the computing infrastructure that supports CRDC’s large-scale data analysis efforts.

CRDC Leadership

The Collaborative has been shaped by the leadership of Drs. Piotr Sliz and Shira Rockowitz, with support from faculty leaders including Drs. Nancy Andrews, Ann Poduri, Alan Beggs (The Manton Center for Orphan Disease Research), and Janet Chou, among others.

The CRDC is guided by a Faculty Steering Committee and works in close coordination with Dr. Wendy Chung and the Department of Pediatrics. It also partners with the International Child Health Partnership (IPCHiP) and is a proud member of the Global Alliance for Genomics and Health (GA4GH).

What research looks like

Patients can learn more about how to join a study by either contacting the research investigator directly or by being referred by another physician to the study. See disease-specific pages for more information. Here is a typical step-by-step process for patients participating in a research study:

Referral

Patient with rare or undiagnosed disease is referred to a CRDC study
 

Study Eligibility Confirmed

Study team reviews and confirms eligibility
 

Consent and Enrollment

Study team contacts eligible patient to schedule an in-person or virtual informed consent meeting to review details of participation, benefits, risks, and limitations of the study
 

Study Visit

Patients may undergo:

• A physical exam with physician-scientist
• Meeting a genetic counselor
• Collection of study samples

Research

Research testing provided and funded by the study team may include:

• Reanalysis of existing results
• Whole exome sequencing
• Whole genome sequencing
• RNA sequencing
• Functional assays

Diagnosis

1. Confirmation of Diagnosis
   Potential diagnoses are confirmed through clinical-grade testing
    
2. Diagnosis Discussion
   Results returned to the family
   Genetic counseling and management recommendations are provided
    
3. Followup
   The study team may pursue further research including gene- or mutation-specific tailored treatment