Neonatal Neurogenetics Program

The Neonatal Neurogenetics Program at Boston Children’s Hospital is one of the only programs in the world dedicated to diagnosing and guiding treatment options for neurological conditions with a genetic cause in newborns and infants. Our mission is to optimize care for these conditions during the newborn period, when a timely diagnosis can directly inform treatment decisions and long-term planning. By bridging cutting-edge research with clinical practice, we hope to improve outcomes for all infants affected by genetic neurological conditions.

While many babies first show signs of a neurological condition during their time in the neonatal intensive care unit (NICU), most neurogenetics programs are focused on outpatient settings. We closely monitor and evaluate at-risk infants in the NICU to determine whether genetic or other factors may be contributing to neurological conditions such as such as seizures, low muscle tone, and congenital anomalies of the nervous system. We identify which newborns and infants with neurological conditions may benefit from genetic testing, targeted therapies, and ongoing specialist care after discharge.

Our team includes neonatologists, neurologists, geneticists, genetic counselors, and researchers who work together and with experts across Boston Children’s to deliver early, individualized care. Using advanced genetic testing and other tools, we help identify the root cause of your child’s condition and guide a care plan that’s tailored to their specific needs. We also collaborate with other Boston Children’s programs focused on early brain health and genetics to ensure your child receives personalized care as early as possible, including:

• Fetal-Neonatal Neurology
• Neurogenetics and Neurodevelopment
• Neonatal Genomics
• Neonatal Neuroprotection and Neuroplasticity

We combine expert clinical care with cutting-edge research to provide advanced testing and new treatments for neonatal neurogenetic conditions as they become available. Our collaborative research focuses on the following areas with the goal of improving precision, or personalized, care for newborns and infants with genetic neurological conditions.

• Precision diagnosis and discovery: We’re studying how best to use genetic testing like rapid exome and genome sequencing to diagnose newborns and infants with genetic neurological conditions in the NICU and beyond. For infants who don’t receive a diagnosis from clinical genetic testing, we’re using advanced research methods to discover new variants and genes associated with brain development and disease.
• Precision management and treatment: When an infant is diagnosed with a genetic neurological condition, we’re studying how the diagnosis leads to personalized management and if we can use existing or develop new personalized treatments to target their underlying diagnosis.
• Precision medicine implementation: We believe all newborns and infants with genetic neurological conditions should have access to personalized diagnosis and care as early as possible. We’re studying how best to implement this type of care, including learning from the perspectives of providers and parents.

Our team members are conducting studies that enroll newborns and infants with many neurological conditions to understand how genetic factors may cause or contribute to these conditions, including:

• Neonatal seizures
• Neonatal epilepsy
• Neonatal encephalopathy, including hypoxic-ischemic encephalopathy
• Neonatal hypotonia
• Neonatal stroke and hemorrhage
• Congenital brain malformations
• Congenital hydrocephalus
• Neural tube defects