Alissa D'Gama, MD, PhD
Physician in Medicine, Division of Newborn Medicine; Director, Neonatal Neurogenetics Program
Assistant Professor of Pediatrics, Harvard Medical School
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Alissa D'Gama, MD, PhD
Physician in Medicine, Division of Newborn Medicine; Director, Neonatal Neurogenetics Program
Assistant Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Harvard University
2011
Cambridge
MA
Graduate School
Harvard Medical School
2016
Boston
MA
Medical School
Harvard Medical School
2018
Boston
MA
Internship
Pediatrics
Boston Combined Residency Program (BCRP)
2019
Boston
MA
Residency
Pediatrics
Boston Combined Residency Program (BCRP)
2020
Boston
MA
Fellowship
Neonatal-Perinatal Medicine
Harvard Neonatal-Perinatal Medicine Fellowship Training Program
2024
Boston
MA
Certifications
American Board of Pediatrics (General)
Professional History
Dr. Alissa D’Gama is an Attending Physician in Medicine in the Division of Newborn Medicine at Boston Children’s Hospital, where she serves as Director of the Neonatal Neurogenetics Program, and an Assistant Professor of Pediatrics at Harvard Medical School. She received her undergraduate degree in Molecular and Cellular Biology from Harvard College and her MD and PhD degrees from Harvard Medical School through the Harvard/MIT MD-PhD Program. Dr. D’Gama completed pediatrics residency training in the Boston Combined Residency Program on the Accelerated Research Pathway and neonatal-perinatal medicine fellowship training in the Harvard Neonatal-Perinatal Medicine Fellowship Training Program, where she served as Chief Fellow. For her postdoctoral training, she was mentored by Drs. Annapurna Poduri and Timothy Yu at Boston Children’s Hospital. Dr. D’Gama is a physician-scientist dedicated to clinical care of critically ill infants and to translational research that advances precision medicine for infants and children with neurological and genetic conditions, especially infants with epilepsy and related neurogenetic disorders. Her lab conducts research at the intersection of developmental neuroscience, genetics/genomics, and neonatology.
Publications
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. View Abstract
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. View Abstract
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. View Abstract
Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Genome Sequencing After Exome Sequencing in Pediatric Epilepsy. View Abstract
Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
"It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. View Abstract
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. View Abstract
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. View Abstract
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. View Abstract
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. View Abstract
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. View Abstract
Genomic medicine in neonatal care: progress and challenges. View Abstract
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. View Abstract
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. View Abstract
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. View Abstract
Brain somatic mosaicism in epilepsy: Bringing results back to the clinic. View Abstract
Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. View Abstract
Integrating rapid exome sequencing into NICU clinical care after a pilot research study. View Abstract
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. View Abstract
A model to implement genomic medicine in the neonatal intensive care unit. View Abstract
Somatic Mosaicism and Autism Spectrum Disorder. View Abstract
Precision Therapy for Epilepsy Related to Brain Malformations. View Abstract
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. View Abstract
Clinical outcomes of pediatric patients with autism spectrum disorder and other neurodevelopmental disorders and intracranial germ cell tumors. View Abstract
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. View Abstract
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. View Abstract
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. View Abstract
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. View Abstract
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. View Abstract
Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. View Abstract
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. View Abstract
Somatic mosaicism and neurodevelopmental disease. View Abstract
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. View Abstract
Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. View Abstract
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. View Abstract
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. View Abstract
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. View Abstract
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. View Abstract
Biallelic mutations in human DCC cause developmental split-brain syndrome. View Abstract
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. View Abstract
Somatic mutation in single human neurons tracks developmental and transcriptional history. View Abstract
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. View Abstract
Somatic mutations in cerebral cortical malformations. View Abstract
Using whole-exome sequencing to identify inherited causes of autism. View Abstract
Locations