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Related Research Units

Genetics and Genomics Research

Research Background

Dr. Peake received his PhD from the Queen's University of Belfast, Northern Ireland, UK. On completion of pre-registration training in Clinical Biochemistry within the National Health Service (NHS), Dr. Peake worked as a registered clinical biochemist in NHS Scotland. In 2011, Dr. Peake transitioned to the Clinical Chemistry Fellowship Program at Boston Children's Hospital, and completed a fellowship program in Clinical Biochemical Genetics at Harvard Medical School in 2015.

Dr. Peake is a Fellow of the Royal College of Pathologists in Clinical Biochemistry. He is board certified in Clinical Chemistry by the American Board of Clinical Chemistry, and in Clinical Biochemical Genetics by the American Board of Medical Genetics and Genomics. Dr. Peake is Director of the Biochemical Genetics Laboratory and Associate Director of Clinical Chemistry. He is an Assistant Professor of Pathology at Harvard Medical School.

Dr. Peake is an Associate Editor of the Journal, "Clinical Chemistry". He is also the Training Director of the ABMGG accredited Clinical Biochemical Genetics Training Program at Harvard Medical School. Dr. Peake's service, teaching and research activities are focused on the development of new diagnostics for inborn errors of metabolism using chromatography mass spectrometry.

Publications

  1. Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease. Mol Genet Metab Rep. 2025 Dec; 45:101250. View Abstract
  2. Diagnostic Odyssey in a Child with Red-Colored Urine and Proteinuria. Clin Chem. 2025 Jan 03; 71(1):31-34. View Abstract
  3. Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability. Clin Chem. 2024 Dec 02; 70(12):1452-1462. View Abstract
  4. ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder. Clin Genet. 2025 Feb; 107(2):201-207. View Abstract
  5. Turbulent Flow Liquid Chromatography-Tandem Mass Spectrometry Methods for Antiepileptic Drug Quantitation in Serum. Methods Mol Biol. 2024; 2737:33-41. View Abstract
  6. Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease. Metabolomics. 2023 03 29; 19(4):29. View Abstract
  7. Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses. Clin Chim Acta. 2023 Feb 15; 541:117250. View Abstract
  8. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genet Med. 2023 02; 25(2):100323. View Abstract
  9. Commentary on Severe Hyperhomocysteinemia in a Patient with Parkinson Disease. Clin Chem. 2022 03 04; 68(3):401. View Abstract
  10. Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches. Mov Disord. 2022 03; 37(3):655-656. View Abstract
  11. A Child with Progressive Hypertrophic Cardiomyopathy and Lactic Acidosis. Clin Chem. 2021 06 01; 67(6):912-914. View Abstract
  12. Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome. Neurol Genet. 2021 Jun; 7(3):e586. View Abstract
  13. Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes. Clin Genet. 2021 05; 99(5):694-703. View Abstract
  14. Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease. J Hum Genet. 2021 Jul; 66(7):689-695. View Abstract
  15. Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn. Clin Chem. 2021 01 08; 67(1):327-330. View Abstract
  16. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172. View Abstract
  17. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin. J Hum Genet. 2021 Feb; 66(2):151-159. View Abstract
  18. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort. Genet Med. 2020 12; 22(12):2071-2080. View Abstract
  19. Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Sci Rep. 2020 Jul 07; 10(1):11160. View Abstract
  20. Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Sci Rep. 2020 06 10; 10(1):9382. View Abstract
  21. Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype. Clin Chem. 2020 05 01; 66(5):739-741. View Abstract
  22. Consolidation of vitamin A and E methods onto a multiplexing liquid chromatography tandem mass spectrometry platform simplifies laboratory workflow. Clin Chim Acta. 2020 Jun; 505:31-33. View Abstract
  23. Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability. Clin Chem. 2018 12; 64(12):1785-1787. View Abstract
  24. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018 11 26; 13(1):212. View Abstract
  25. Commentary. Clin Chem. 2018 10; 64(10):1437. View Abstract
  26. Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. Clin Chem. 2018 08; 64(8):1260-1262. View Abstract
  27. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Haematologica. 2018 12; 103(12):e561-e563. View Abstract
  28. Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. Clin Chem. 2018 05; 64(5):870-872. View Abstract
  29. Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. Clin Chem. 2017 11; 63(11):1771-1773. View Abstract
  30. A Case of Severe Neonatal Hyperammonemia. Clin Chem. 2017 08; 63(8):1420-1422. View Abstract
  31. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Abstract
  32. Towards a random-access LC-MS/MS model for busulfan analysis. Clin Chem Lab Med. 2017 Jun 27; 55(7):e154-e157. View Abstract
  33. Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child. Clin Chem. 2017 06; 63(6):1171-1173. View Abstract
  34. Dark Colored Urine in a 2-Year-Old Child. Clin Chem. 2017 03; 63(3):786-788. View Abstract
  35. Value of Multiple Proficiency Test Schema to Identify Issues in Amino Acid Quantitation. Am J Clin Pathol. 2017 Mar 01; 147(suppl_2):S158-S159. View Abstract
  36. A Term Newborn with Respiratory Distress, Acidosis, and Hypoglycemia. Clin Chem. 2017 02; 63(2):613-615. View Abstract
  37. Dilated Cardiomyopathy in a 2-Year-Old Infant. Clin Chem. 2017 01; 63(1):433-435. View Abstract
  38. Newborn Screening for Lysosomal Storage Disorders. J Pediatr Genet. 2017 Mar; 6(1):51-60. View Abstract
  39. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Rep. 2017; 35:7-15. View Abstract
  40. Deranged Liver Function in a Neonate. Clin Chem. 2016 11; 62(11):1539-1541. View Abstract
  41. Measurement of neosaxitoxin in human plasma using liquid-chromatography tandem mass spectrometry: Proof of concept for a pharmacokinetic application. J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Nov 15; 1036-1037:42-49. View Abstract
  42. Increased C3 Acylcarnitine Concentration in a Newborn. Clin Chem. 2016 10; 62(10):1410-2. View Abstract
  43. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 11; 62(11):1430-1438. View Abstract
  44. A Case of Increased C5-OH Acylcarnitine. Clin Chem. 2016 09; 62(9):1278-9. View Abstract
  45. Seizures, Dystonia, and Spasms in a 14-Year-Old Child. Clin Chem. 2016 08; 62(8):1159-60. View Abstract
  46. Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak. Clin Chem. 2016 05; 62(5):781-2. View Abstract
  47. A Phase 1, Dose-escalation, Double-blind, Block-randomized, Controlled Trial of Safety and Efficacy of Neosaxitoxin Alone and in Combination with 0.2% Bupivacaine, with and without Epinephrine, for Cutaneous Anesthesia. Anesthesiology. 2015 Oct; 123(4):873-85. View Abstract
  48. Multicenter evaluation of the thermo scientific prelude for measurement of immunosuppressant drugs using sample preparation liquid chromatography-tandem mass spectrometry. Ther Drug Monit. 2015 Apr; 37(2):161-71. View Abstract
  49. Recommended reading for rookie LC-MS users. Clin Chem. 2015 Feb; 61(2):444-5. View Abstract
  50. Family hardships and serum cotinine in children with asthma. Pediatrics. 2015 Feb; 135(2):e416-23. View Abstract
  51. Diagnostics in the front line against infectious disease. Clin Chem. 2014 Dec; 60(12):1586-7. View Abstract
  52. Mice with hepatocyte-specific deficiency of type 3 deiodinase have intact liver regeneration and accelerated recovery from nonthyroidal illness after toxin-induced hepatonecrosis. Endocrinology. 2014 Oct; 155(10):4061-8. View Abstract
  53. Cotinine in children admitted for asthma and readmission. Pediatrics. 2014 Feb; 133(2):e355-62. View Abstract
  54. “Teaching for the masses”—The e-Learning revolution. Clin Chem. 2013 Dec; 59(12):1818-9. View Abstract
  55. The effect of magnesium administration on erythrocyte transketolase activity in alcoholic patients treated with thiamine. Scott Med J. 2013 Aug; 58(3):139-42. View Abstract
  56. Significance for the sake of significance: the relevance of statistical data. Clin Chem. 2013 Jun; 59(6):1002. View Abstract
  57. Improved separation and analysis of plasma amino acids by modification of the MassTrak™ AAA Solution Ultraperformance® liquid chromatography method. Clin Chim Acta. 2013 Aug 23; 423:75-82. View Abstract
  58. Biomarkers in the clinic: a cautionary tale. Clin Chem. 2012 Sep; 58(9):1376-7. View Abstract
  59. Differential reactivities of recombinant glycosylated ectodomains of mouse and human thyrotropin receptors with patient autoantibodies. Endocrinology. 1997 Apr; 138(4):1559-66. View Abstract
  60. Thyroglobulin degradation: Particulate intermediates produced in viv. Endocrinology. 1970 Sep; 87(3):494-505. View Abstract
  61. Stimulation of proteolysis in thyroid particles by thyrotropin. Endocrinology. 1966 Jul; 79(1):19-27. View Abstract

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