Current Environment: Production

Medical Services

Programs & 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

  1. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet. 2025 May 16. View Abstract

  2. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Brain Commun. 2025; 7(2):fcaf113. View Abstract

  3. International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. NPJ Genom Med. 2025 Feb 27; 10(1):13. View Abstract

  4. Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet. 2025 Mar 06; 112(3):537-553. View Abstract

  5. Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Neurology. 2025 Jan 14; 104(1):e210106. View Abstract

  6. Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. Prenat Diagn. 2024 Dec 05. View Abstract

  7. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract

  8. Genome Sequencing After Exome Sequencing in Pediatric Epilepsy. JAMA Neurol. 2024 Dec 01; 81(12):1316-1318. View Abstract

  9. Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy. medRxiv. 2024 Aug 09. View Abstract

  10. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract

  11. "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Genet Med. 2024 Sep; 26(9):101177. View Abstract

  12. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024 Jun; 11(6):1643-1647. View Abstract

  13. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ Genom Med. 2024 Apr 06; 9(1):27. View Abstract

  14. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol. 2024 Aug; 44(8):1196-1202. View Abstract

  15. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open. 2024 02 06; 14(2):e080529. View Abstract

  16. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024 Feb; 10(1):e200117. View Abstract

  17. Genomic medicine in neonatal care: progress and challenges. Eur J Hum Genet. 2023 12; 31(12):1357-1363. View Abstract

  18. Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2023 Oct; 26(10):1833. View Abstract

  19. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023 09; 22(9):812-825. View Abstract

  20. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. View Abstract

  21. Brain somatic mosaicism in epilepsy: Bringing results back to the clinic. Neurobiol Dis. 2023 06 01; 181:106104. View Abstract

  22. Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. J Perinatol. 2023 07; 43(7):963-967. View Abstract

  23. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022 Sep 05; 7(1):51. View Abstract

  24. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science. 2022 07 29; 377(6605):511-517. View Abstract

  25. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2023 02; 43(2):248-252. View Abstract

  26. Somatic Mosaicism and Autism Spectrum Disorder. Genes (Basel). 2021 10 26; 12(11). View Abstract

  27. Precision Therapy for Epilepsy Related to Brain Malformations. Neurotherapeutics. 2021 07; 18(3):1548-1563. View Abstract

  28. Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021 Apr; 24(4):611. View Abstract

  29. Clinical outcomes of pediatric patients with autism spectrum disorder and other neurodevelopmental disorders and intracranial germ cell tumors. Pediatr Blood Cancer. 2021 08; 68(8):e28935. View Abstract

  30. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021 02; 24(2):176-185. View Abstract

  31. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207. View Abstract

  32. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. View Abstract

  33. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 04; 182(4):780-784. View Abstract

  34. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019 07; 179(7):1299-1303. View Abstract

  35. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clin Chim Acta. 2019 Feb; 489:103-108. View Abstract

  36. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve. 2019 03; 59(3):357-362. View Abstract

  37. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018 11; 21(11):1504-1514. View Abstract

  38. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2018 Sep; 16:15-19. View Abstract

  39. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A. 2018 07; 176(7):1627-1631. View Abstract

  40. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. View Abstract

  41. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766. View Abstract

  42. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. View Abstract

  43. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95. View Abstract

  44. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Abstract

  45. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. View Abstract

  46. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View Abstract

  47. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View Abstract

  48. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View Abstract

  49. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View Abstract