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. 

Learn more about what defines a rare disease

About the CRDC

The Boston Children’s Rare Disease Collaborative (CRDC) was established in 2018 as a hospital-wide research effort. It includes 57 rare disease studies and features the Manton Center for Orphan Disease Research. The CRDC’s mission is to:

  • Find and understand genetic causes of rare diseases.
  • Facilitate research-informed care.
  • Provide families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

Pediatric Rare Disease Summit - Bridging Science & Care

Date: April 29, 2025, 8:30 am - 6 pm

Location: Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, Massachusetts

This one day summit at Boston Children's provides an opportunity for patients and families to learn about the scope and breadth of research-informed care at Boston Children's, including inspiring stories of diagnosis to treatment.

Learn more about the Pediatric Rare Disease Summit

Rare diseases we study

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.

Other rare diseases

Cancer and blood disorders

Endocrinology

Gastroenterology, hepatology and nutrition

Immunology

Nephrology

Neurology

Newborn medicine

Ophthalmology

Otolaryngology

Plastic and oral surgery

Psychiatry

Pulmonary medicine

Urology

Who we are

CRDC faculty headshots

Based out of a leading teaching hospital, the CRDC fosters collaboration and innovation by connecting patients and families with:

  • World-class experts
  • Physician-scientists and researchers
  • Pharmaceutical and industry partners
  • Patient advocacy communities

Together, we strive to find new treatments, understand biological mechanisms, and discover the genetic causes of rare diseases using cutting-edge technologies.

CRDC is led by the Faculty Steering Committee (Drs. Piotr Sliz, Shira Rockowitz, Nancy Andrews, Alan Beggs, Mira Irons, Janet Chou) and works in close coordination with Dr. Wendy Chung and the Department of Pediatrics. CRDC collaborates with the International Child Health Partnership (IPCHiP) and is a member of the Global Alliance for Genomics and Health (GA4GH). CRDC is implemented by BCH Research Informatics and was established in 2018 in response to the recommendation from the BCH Genomic Blue Ribbon Committee.

Key outcomes

  1. Diagnostic Success: Diagnostic variants have been identified in 15% of patients, leading to changes in care for many of these cases. An additional 20% of cases have findings which are undergoing further research.
     
  2. Research and Enrollment: Over 13,000 participants have enrolled in more than 52 pediatric rare disease cohorts.
     
  3. Innovative Studies: Studies in rare pediatric diseases, including epilepsy and inflammatory bowel disease, have led to discoveries of novel genetic diseases.
     
  4. Advanced Techniques: The CRDC uses cutting-edge techniques such as whole exome sequencing, whole genome sequencing, RNA sequencing, and proteomics to uncover the genetic basis of rare diseases.
     
  5. Impact on Care: The use of research sequencing has expanded available genetic testing options for clinical care. These tests may not be covered by payors. Research also allows a “second look” at or reanalysis of nondiagnostic clinical testing. The findings from the CRDC have led to significant changes in treatment plans and have provided new insights into the genetic causes of various rare diseases.

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

Ongoing Research

Currently available research testing may not result in a diagnosis. The research team will continue to pursue a diagnosis. Patients may be followed over time for:

  • Clinical updates
  • Natural history studies
  • Availability of new technologies
  • Advances in gene discovery, etc.
  • Reanalysis of genetic testing data