Information

Related Research Units

Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC) Research
Newborn Medicine Research
Children's Rare Disease Collaborative

Research Overview

The D’Gama Lab conducts translational research at the intersection of developmental neuroscience, genetics/genomics, and neonatology. Our goal is to advance equitable precision medicine for infants and children with neurological and genetic conditions, especially infants with epilepsy and related neurogenetic disorders. We aim to accomplish this goal by conducting research across the translational spectrum: discovering fundamental underlying molecular genetic mechanisms (precision diagnoses) and evaluating their impact, enabling development of innovative precision therapies and readiness for clinical trials, and implementing precision medicine equitably for these populations. Ultimately, we hope to improve outcomes for pediatric patients with these conditions and their families.

Research Background

Dr. D’Gama is an attending physician and principal investigator in the Division of Newborn Medicine at Boston Children’s Hospital, where she serves as Director of the Neonatal Neurogenetics Program, and an Instructor of Pediatrics at Harvard Medical School. She studied Molecular and Cellular Biology at Harvard College and then trained in the Harvard/MIT MD-PhD Program. During her PhD under the mentorship of Dr. Christopher Walsh, she studied germline and somatic variants in neurodevelopmental disorders. 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 in neurogenetics and neonatal genomics, she was mentored by Drs. Annapurna Poduri and Timothy Yu at Boston Children’s Hospital.

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

Publications

  1. 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
  2. Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet. 2025 Mar 06; 112(3):537-553. View Abstract
  3. 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
  4. Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. Prenat Diagn. 2024 Dec 05. View Abstract
  5. 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
  6. Genome Sequencing After Exome Sequencing in Pediatric Epilepsy. JAMA Neurol. 2024 Dec 01; 81(12):1316-1318. View Abstract
  7. Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy. medRxiv. 2024 Aug 09. View Abstract
  8. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract
  9. "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Genet Med. 2024 Sep; 26(9):101177. View Abstract
  10. 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
  11. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ Genom Med. 2024 Apr 06; 9(1):27. View Abstract
  12. 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
  13. 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
  14. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024 Feb; 10(1):e200117. View Abstract
  15. Genomic medicine in neonatal care: progress and challenges. Eur J Hum Genet. 2023 12; 31(12):1357-1363. View Abstract
  16. 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
  17. 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
  18. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. View Abstract
  19. Brain somatic mosaicism in epilepsy: Bringing results back to the clinic. Neurobiol Dis. 2023 06 01; 181:106104. View Abstract
  20. 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
  21. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022 Sep 05; 7(1):51. View Abstract
  22. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science. 2022 07 29; 377(6605):511-517. View Abstract
  23. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2023 02; 43(2):248-252. View Abstract
  24. Somatic Mosaicism and Autism Spectrum Disorder. Genes (Basel). 2021 10 26; 12(11). View Abstract
  25. Precision Therapy for Epilepsy Related to Brain Malformations. Neurotherapeutics. 2021 07; 18(3):1548-1563. View Abstract
  26. 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
  27. 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
  28. 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
  29. 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
  30. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. View Abstract
  31. 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
  32. 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
  33. 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
  34. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve. 2019 03; 59(3):357-362. View Abstract
  35. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018 11; 21(11):1504-1514. View Abstract
  36. 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
  37. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A. 2018 07; 176(7):1627-1631. View Abstract
  38. 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
  39. 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
  40. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. View Abstract
  41. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95. View Abstract
  42. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Abstract
  43. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. View Abstract
  44. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View Abstract
  45. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View Abstract
  46. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View Abstract
  47. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View Abstract

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