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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.

David Williams, MD, Boston Children's Hospital Chief of the Division of Hematology/Oncology

Technologies

We have developed a broadly sharable database and have engaged several external partners, including GeneDx, Clinithink, Pacific Biosciences, Novogene, TriNetX, 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

Piotr Sliz, PhD

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

Shira Rockowitz, PhD

Data Science Director, Research Computing

Instructor, Harvard Medical School

CRDC Steering Committee

*Members of the CRDC Steering Committee also participate in the other committees below

Piotr Sliz, PhD

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

Shira Rockowitz, PhD

Data Science Director, Research Computing

Instructor, Harvard Medical School

Alan Beggs, PhD

Director, The Manton Center for Orphan Disease Research

Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School

Janet Chou, MD

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*

 

CRDC Cohort Selection Subcommittee*

Margaret Kenna, MD, MPH, FACS, FAAP

Professor of Otolaryngology, Harvard Medical School

Timothy Yu, MD, PhD

Associate Professor of Pediatrics, Harvard Medical School

Olaf Bodamer, MD, PhD, FACMG, FAAP

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

Maya Chopra, MBBS, FRACP

Attending Physician, Division of Genetics & Genomics

Assistant Professor of Neurology, Harvard Medical School

Clinical Genomic Data Subcommittee*