MEDICAL SERVICES

EDUCATION

Medical School

  • Columbia University Medical School , 2011 , New York , NY

Residency

  • Boston Combined Pediatrics Residency Program (BCRP) / Harvard Medical School Medical Genetics Residency Combined Training Program , 2011 - 2017 , Boston , MA

Fellowship

  • Boston Children's Hospital , 2016 , Boston , MA

Philosophy of Care

Dr. Anne O’Donnell is the Associate Director of the Broad Center for Mendelian Genomics (CMG) at the Broad Institute of MIT & Harvard and an Attending Physician at Boston Children’s Hospital.  

Dr. O’Donnell leads the EpiChroma clinic, A Genetics Clinic for Epigenetic and Chromatin Disorders. The EpiChroma clinic focuses on diagnosing and caring for children and families with disorders due to mutations in the DNA methylation or histone machinery. By working together with families, she hopes to improve patient management and increase research for these conditions, while educating providers and families about epigenetics and the associated conditions. She also sees patients with inborn errors of metabolism and other rare genetic conditions.

PROFESSIONAL HISTORY

Dr. O’Donnell is trained in clinical genetics, biochemical genetics and pediatrics. She completed her MD/PhD training at Columbia University Medical School in New York. Her thesis research focused on the role of DNA methylation alterations in complex disease including cancer and neuropsychiatric disease. She became interested in rare disease during medical school, leading her to be the first to complete the Combined Pediatrics-Genetics Residency Training Program at Boston Children’s Hospital and Harvard Medical School. She further completed a Fellowship in Medical Biochemical Genetics at Boston Children’s Hospital.

As Associate Director of the the Broad Center for Mendelian Genomics (CMG), she leads a team analyzing thousands of rare disease families to improve genetic diagnosis and novel disease gene discovery. Her research is focused on using large scale genomics to understand the mechanisms of incomplete penetrance.

CERTIFICATIONS

  • American Board of Pediatrics, General Pediatrics

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Rohanizadegan M, Abdo SM, O'Donnell-Luria A, Mihalek I, Chen P, Sanders M, Leeman K, Cho M, Hung C, Bodamer O. Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View abstract
  2. Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B. ClinVar data parsing. Wellcome Open Res. 2017; 2:33. View abstract
  3. Whiffin N, Minikel E, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158. View abstract
  4. Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). View abstract
  5. Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Hayyat Mallick N, Ishaq M, Rasheed SZ, Memon FU, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239. View abstract
  6. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May; 49(5):806-810. View abstract
  7. Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP, Tvrdik T, MacArthur DG, Mao R. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum Mutat. 2017 05; 38(5):517-523. View abstract
  8. O'Donnell-Luria AH, Lin AP, Merugumala SK, Rohr F, Waisbren SE, Lynch R, Tchekmedyian V, Goldberg AD, Bellinger A, McFaline-Figueroa JR, Simon T, Gershanik EF, Levy BD, Cohen DE, Samuels MA, Berry GT, Frank NY. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View abstract
  9. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91. View abstract
  10. O'Donnell-Luria AH, Miller DT. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. View abstract
  11. Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia Z, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue Y, Schnall-Levin M, Petkov PM, Tyler-Smith C, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016 Apr 22; 352(6284):474-7. View abstract
  12. Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM, Daly MJ, MacArthur DG. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9. View abstract
  13. Shang L, Cho MT, Retterer K, Folk L, Humberson J, Rohena L, Sidhu A, Saliganan S, Iglesias A, Vitazka P, Juusola J, O'Donnell-Luria AH, Shen Y, Chung WK. Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics. 2015 Oct; 16(4):307-14. View abstract
  14. Levitsky LL, Luria AH, Hayes FJ, Lin AE. Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 2015 Feb; 22(1):65-72. View abstract
  15. O'Donnell AH, Edwards JR, Rollins RA, Vander Kraats ND, Su T, Hibshoosh HH, Bestor TH. Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis. J Cancer Ther. 2014 Dec 01; 5(14):1311-1324. View abstract
  16. Haghighi F, Xin Y, Chanrion B, O'Donnell AH, Ge Y, Dwork AJ, Arango V, Mann JJ. Increased DNA methylation in the suicide brain. Dialogues Clin Neurosci. 2014 Sep; 16(3):430-8. View abstract
  17. Milekic MH, Xin Y, O'Donnell A, Kumar KK, Bradley-Moore M, Malaspina D, Moore H, Brunner D, Ge Y, Edwards J, Paul S, Haghighi FG, Gingrich JA. Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. Mol Psychiatry. 2015 Aug; 20(8):995-1001. View abstract
  18. Orlin MN, Cicirello NA, O'Donnell AE, Doty AK. The continuum of care for individuals with lifelong disabilities: role of the physical therapist. Phys Ther. 2014 Jul; 94(7):1043-53. View abstract
  19. Xin Y, Chanrion B, O'Donnell AH, Milekic M, Costa R, Ge Y, Haghighi FG. MethylomeDB: a database of DNA methylation profiles of the brain. Nucleic Acids Res. 2012 Jan; 40(Database issue):D1245-9. View abstract
  20. Xin Y, O'Donnell AH, Ge Y, Chanrion B, Milekic M, Rosoklija G, Stankov A, Arango V, Dwork AJ, Gingrich JA, Haghighi FG. Role of CpG context and content in evolutionary signatures of brain DNA methylation. Epigenetics. 2011 Nov; 6(11):1308-18. View abstract
  21. Edwards JR, O'Donnell AH, Rollins RA, Peckham HE, Lee C, Milekic MH, Chanrion B, Fu Y, Su T, Hibshoosh H, Gingrich JA, Haghighi F, Nutter R, Bestor TH. Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns. Genome Res. 2010 Jul; 20(7):972-80. View abstract
  22. Ooi SK, O'Donnell AH, Bestor TH. Mammalian cytosine methylation at a glance. J Cell Sci. 2009 Aug 15; 122(Pt 16):2787-91. View abstract
  23. Tanay A, O'Donnell AH, Damelin M, Bestor TH. Hyperconserved CpG domains underlie Polycomb-binding sites. Proc Natl Acad Sci U S A. 2007 Mar 27; 104(13):5521-6. View abstract
  24. O'donnell AH, Yao X, Byers LD. Solvent isotope effects on alpha-glucosidase. Biochim Biophys Acta. 2004 Dec 01; 1703(1):63-7. View abstract
  25. Xu B, O'Donnell AH, Kim ST, Kastan MB. Phosphorylation of serine 1387 in Brca1 is specifically required for the Atm-mediated S-phase checkpoint after ionizing irradiation. Cancer Res. 2002 Aug 15; 62(16):4588-91. View abstract