Precision Medicine | Children’s Rare Disease Cohorts (CRDC)

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.

About the CRDC initiative

The Children's Rare Disease Cohort (CRDC) initiative at Boston Children’s Hospital fuels genomics research (the study of all of a person's genes) around 27 rare disease cohorts to expedite pediatric precision medicine. The information gathered supports our internal and collaborative research projects, and under certain circumstances, the data also can inform clinical treatment of participating families. Enrollment and sample collection can be completed from the comfort of your home.

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 Scientific Officer


We have developed a broadly sharable database and have engaged several external partners, including GeneDx, Genuity Science, Emedgene, and Clinithink. 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 2441 participants and collected data from medical record and research surveys.

NPJ Genomics Medicine
CRDC: An integrative research and clinical genomics initiative

READ OUR PAPER

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How to contact us

The CRDC is maintained by Research Computing under the direction of Shira Rockowitz, PhD, and Piotr Sliz, PhD. Below is a full list of participating clinicians, their contact information and area of interest. The cohort selection process is led by Timothy Yu, MD. PhD, Leonard Rappaport, MD, MS, and David Williams, MD, chief scientific officer, and includes all CRDC faculty members.

Pediatric rare disease cohorts

More than 24 pediatric rare disease cohorts are now participating in the CRDC.

Cohort Primary Investigator Contact Information
Epilepsy and related disorders Annapurna Poduri, MD, MPH, Department of Neurology epilepsygenetics@childrens.harvard.edu
Inflammatory bowel disease (Crohns diseaseulcerative colitis, indeterminate colitis, very early onset inflammatory bowel disease) Scott Snapper, MD, PhD, Division of Gastroenterology, Hepatology and Nutrition
scott.snapper@childrens.harvard.edu
Immunodeficiencies, autoimmunity, and immune dysregulation Janet Chou, MD, Division of Immunology janet.chou@childrens.harvard.edu
Congenital sensorineural hearing loss Margaret Kenna, MD, MPH, FACS, FAAP, Department of Otolaryngology and Communication Enhancement BAGHLstudy@childrens.harvard.edu
Ehlers Danlos syndrome or related conditions Joel Hirschhorn, MD, PhD, Division of Endocrinology joel.hirschhorn@childrens.harvard.edu
Idiopathic short stature Joel Hirschhorn, MD, PhD, Division of Endocrinology joel.hirschhorn@childrens.harvard.edu
Disorders of sexual development/severe hypospadias Joel Hirschhorn, MD, PhD, Division of Endocrinology joel.hirschhorn@childrens.harvard.edu
Bronchiectasis Benjamin Raby, MD, MPH, Division of Pulmonary Medicine benjamin.raby@childrens.harvard.edu
Childhood interstitial and diffuse lung disease Benjamin Raby, MD, MPH, Division of Pulmonary Medicine benjamin.raby@childrens.harvard.edu
Congenital diarrheas and enteropathies (infantile onset
chronic diarrhea or malabsorption)
Jay Thiagarajah, MD, PhD, Division of Gastroenterology, Hepatology and Nutrition enteropathy@childrens.harvard.edu
 
Ultra-rare cohorts Pankaj Agrawal, MD, MMSc, Division of Genetics and Genomics and Division of Newborn Medicine pankaj.agrawal@enders.tch.harvard.edu
Cerebral palsy and related disorders (infancy or older)
Siddharth Srivastava, MD, Department of Neurology Siddharth.Srivastava@childrens.harvard.edu
Ectodermal dysplasia and cleft lip and/or palate Ingrid Ganske, MD, Department of Plastic & Oral Surgery ingrid.ganske@childrens.harvard.edu
Myopathies and dystrophies Alan Beggs, PhD, Division of Genetics and Genomics beggs@enders.tch.harvard.edu
Severe early onset major depression (documented before the age of 14) Joseph Gonzalez-Heydrich, MD, Department of Psychiatry DNP.Studies@childrens.harvard.edu
Disorders impacting social and cognitive unctioning (ADHD, OCD, dyslexia, or a related disorder) Ryan Doan, PhD, Department of Pediatrics
Severe pediatric COVID-19 Adrienne Randolph, MD, MSc, Department of Anesthesiology, Critical Care and Pain Medicine adrienne.randolph@childrens.harvard.edu
Severe chronic pain and insensitivity to pain Charles Berde, MD, PhD, Department of Anesthesiology, Critical Care and Pain Medicine charles.berde@childrens.harvard.edu
Anemias and Iron Disorders
Mark Fleming, MD, DPhil, Department of Pathology
mark.fleming@childrens.harvard.edu
Neonatal Intensive Care Unit
Pankaj Agrawal, MD, MMSc, Division of Genetics and Genomics and Division of Newborn Medicine
pankaj.agrawal@enders.tch.harvard.edu 
Peripheral vestibular disorders Eliot Shearer, MD, PhD Department of Otolaryngology and Communication Enhancement Chives.Study@childrens.harvard.edu
Nephrotic syndrome/glomerular disease (childhood onset nephrotic syndrome) Matt Sampson, MD, MS, Division of Nephrology bigkids.biobank@childrens.harvard.edu
Osteogenesis Imperfecta/multiple fractures (clinical diagnosis of OI OR 3 or more long bone fractures or any spinal compression fractures before puberty) Christina Jacobsen, MD, PhD. Division of Endocrinology 617-919-2035
Psychosis/Psychiatry David Glahn, PhD, Department of Psychiatry david.glahn@childrens.harvard.edu