This page is dedicated to the Neonatal Intensive Care Unit (NICU) research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The NICU research study, established in 2021 and led by Dr. Sarah Morton, has enrolled 50 patients and their families. The study aims to identify genetic causes underlying illnesses for infants seen in the NICU and provide personalized medicine. The team works in close partnership with the Newborn Genomics Program which is led by Dr. Monica Wojcik.
Principal Investigator
Assistant Professor of Pediatrics, Harvard Medical School
Disease information
The Neonatal Intensive Care Unit (NICU) at Boston Children’s is a Level III/IV, 30-bed referral center for critically ill infants requiring complex medical and surgical care. Highly specialized physicians, nurses, and support staff collaborate in the care of critically ill infants and their families. Learn more about Boston Children’s NICU.
It is estimated that 37%-50% of infants seen in the NICU have an underlying genetic cause for their illness. Some common conditions seen include:
- Congenital heart disease
- Esophageal atresia
- Vein of Galen aneurysm
- Cloacal exstrophy
- Hypotonia
Key outcomes
To date, 14 participants have had candidate findings that are being researched further.
Participate in research
Physicians may refer their NICU patients to Dr. Morton. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Morton’s research on the Morton Lab webpage.
Patient care
Critically ill infants are seen by an expert multidisciplinary team in the Boston Children’s NICU.
Patient stories
At 2 months of age, we enrolled an infant who was facing significant medical challenges due to hypoxic-ischemic encephalopathy and congenital anomalies, including laryngeal and esophageal anomalies. His family, who traveled across the country for specialized care, had endured multiple miscarriages and rounds of IVF before finally welcoming their new baby as the "light" of their lives. Despite all of the stressors associated with hospitalization and being far from home, the family was filled with excitement about the opportunity to participate in our research cohort. They were eager to uncover any possible answers and explanations for their baby’s condition. The possibility of genomic reanalysis not only gave them hope for personal benefit, but also allowed them to contribute to research that could benefit other families facing similar challenges. Through their involvement in the study, they found a way to turn their difficult journey into a source of support and compassion for others navigating similar paths.
Investigator
Divisions
Notable publications by investigators
- Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
- Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol.
Disease support organizations
Hand to Hold
Hand to Hold is a national nonprofit that provides personalized emotional support, educational resources and community for all NICU parents before, during and after a NICU stay.
ICU baby
ICU Baby is on a mission to unite NICU families and provide them with financial, emotional and informational support so that families and babies can thrive together in the NICU.
NICU Helping Hands
NICU Helping Hands serves its local community, Fort Worth, Texas, and families all across the country who are looking for education, support, and a helping hand during one of the most difficult journeys they will ever make.
Project Sweet Peas
Project Sweet Peas is a national nonprofit organization providing support to families and caregivers of premature or sick infants and families impacted by pregnancy and infant loss.