Ten million children are affected by a rare disease with a genetic cause. Yet, treatments for rare diseases are limited due to the unique challenges of rare disease research. Pediatric patients affected by the same rare disease (cohorts) are few in number and tend to be geographically widely distributed. So, finding a way to combine small cohorts is extremely valuable.
The CRDC is an institution-wide initiative to better understand the molecular abnormalities associated with rare disease phenotypes. We envision this will allow more rapid diagnosis, in some cases personalized-treatment strategies with current medications, and identification of new targets that will facilitate development of new therapies for children with rare disease.
Technologies
We have developed a broadly sharable database and have engaged several external partners, including GeneDx, Clinithink, Pacific Biosciences, Novogene, TriNetX, and Seqr. CRDC Investigators collaborate with other researchers via Matchmaker Exchange, the Genomic Information Commons, Human Genetics Amplifier (HuGeAMP).
Progress
Within its first year, the CRDC launched 15 studies of rare pediatric-onset Mendelian diseases, including epilepsy and inflammatory bowel disease (IBD). Together, these studies enrolled 2,441 participants and collected data from medical records and research surveys.
Today, over 10,000 participants have enrolled in more than 52 pediatric rare disease cohorts. Whole exome sequencing, whole genome sequencing, RNA sequencing, long read whole genome sequencing, proteomics and single cell RNA sequencing data has been collected.
Leadership
CRDC Implementation
Vice President and Chief Research Information Officer; Faculty, Division of Molecular Medicine; Principal Investigator, SBGrid Consortium
Associate Professor of Pediatrics and of Biological Chemistry and Molecular Pharmacology, Harvard Medical School
CRDC Steering Committee
*Members of the CRDC Steering Committee also participate in the other committees below
Vice President and Chief Research Information Officer; Faculty, Division of Molecular Medicine; Principal Investigator, SBGrid Consortium
Associate Professor of Pediatrics and of Biological Chemistry and Molecular Pharmacology, Harvard Medical School
Director, The Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School
Associate Professor of Pediatrics, Harvard Medical School
CRDC Executive Subcommittee*
Nancy Andrews, MD, PhD
Executive Vice President and Chief Scientific Officer
August Cervini, MBA
Senior Vice President of Research Administration
CRDC Computational and Analytics Subcommittee*
Assistant Professor of Pediatrics, Harvard Medical School
Assistant Professor of Pediatrics, Harvard Medical School
CRDC Cohort Selection Subcommittee*
Professor of Otolaryngology, Harvard Medical School
Associate Professor of Pediatrics, Harvard Medical School
Director, Roya Kabuki Program; Director, NORD Rare Disease Center
Associate Professor, Harvard Medical School
Siddharth Srivastava, MD
Assistant, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
Attending Physician, Division of Genetics & Genomics
Assistant Professor of Neurology, Harvard Medical School
Clinical Genomic Data Subcommittee*
Director, Roya Kabuki Program; Director, NORD Rare Disease Center
Associate Professor, Harvard Medical School
Thomas Morgan Rotch Professor of Pediatrics, Professor of Medicine, Harvard Medical School
Associate Professor of Pediatrics, Harvard Medical School