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Anne O'Donnell Luria, M.D., Ph.D.

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Biography
Columbia University College of Physicians and Surgeons, New York, NYMD, PhD
Boston Children's Hospital / Harvard Medical School Combined Peds-Genetics Residency, Boston, MA
Boston Children's Hospital Medical Biochemical Genetics Fellowship, Boston, MA

Overview
Associate Director of the Broad Center for Mendelian Genomics (CMG)
The Broad CMG applies large-scale genomic methods - exome, whole-genome and transcriptome sequencing - to thousands of undiagnosed rare disease families to drive novel disease gene discovery.

My research focuses on understanding the mechanisms of incomplete penetrance, using large scale reference population databases in improve clinical variant interpretation, and using large scale genomics to improve rare disease gene discovery. I am a member of the ClinGen Sequence Variant Interpretation (SVI) working group.

I lead the EpiChroma Clinic: a Genetics Clinic for Epigenetic and Chromatin Disorders at Boston Children's Hospital. Here I work with families impacted by genetic disorders involving the chromatin machinery which involves how our genetic code is packaged and expressed. I also see children with intellectual disability, developmental delay or inborn errors of metabolism, along with other rare genetic disorders.

Also publishes as Anne H. O'Donnell-Luria

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Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Anne H O’Donnell-Luria, Lynn S Pais, Víctor Faundes, Jordan C Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A Basinger, Claudia Bianchini, Lynne M Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Deciphering Developmental Disorders (DDD) Study, Florence Demurger, James J Dowling, Benedicte Duban-Bedu, Christele Dubourg, Luis F Escobar, Alessandra Ferrarini, Tobias B Haack, Mona Hashim, Solveig Heide, Katherine L Helbig, Ingo Helbig, Raul Heredia, Delphine Heron, Bertrand Isidor, Amy R Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M Maas, Gustavo HB Maegawa, Carlo LM Marcelis, Saga Elise Eiset, Paul R Mark, Mercelo R Masruha, Heather M McLaughlin, Kirsty McWalter, Esther U Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza LP Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G Weber, Ingrid M Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H Rodan. Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy. bioRxiv. 2019. View Publication.
  2. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. PMID: 30735661.
    Citations:    
  3. Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 Jan 18. PMID: 30655598.
    Citations:    Fields:    
  4. Haworth CS, Bilton D, Chalmers JD, Davis AM, Froehlich J, Gonda I, Thompson B, Wanner A, O'Donnell AE. Inhaled liposomal ciprofloxacin in patients with non-cystic fibrosis bronchiectasis and chronic lung infection with Pseudomonas aeruginosa (ORBIT-3 and ORBIT-4): two phase 3, randomised controlled trials. Lancet Respir Med. 2019 Mar; 7(3):213-226. PMID: 30658914.
    Citations:    Fields:    
  5. Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. Am J Hum Genet. 2019 Jan 03; 104(1):187-190. PMID: 30609406.
    Citations:    Fields:    
  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. Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 Jan; 51(1):3-4. PMID: 30478437.
    Citations:    Fields:    
  7. Arachchi H, Wojcik MH, Weisburd B, Jacobsen JOB, Valkanas E, Baxter S, Byrne AB, O'Donnell-Luria AH, Haendel M, Smedley D, MacArthur DG, Philippakis AA, Rehm HL. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 Dec; 39(12):1827-1834. PMID: 30240502.
    Citations:    Fields:    
  8. Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2. PMID: 30057141.
    Citations:    Fields:    
  9. 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). PMID: 28802248.
    Citations:    Fields:    Translation:Humans
  10. Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B. ClinVar data parsing. Wellcome Open Res. 2017; 2:33. PMID: 28630944.
    Citations: 1     
  11. 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. PMID: 28518168.
    Citations: 24     Fields:    Translation:Humans
  12. 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). PMID: 28424332.
    Citations: 19     Fields:    Translation:HumansCells
  13. 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. PMID: 28406212.
    Citations: 29     Fields:    Translation:HumansCells
  14. 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. PMID: 28369035.
    Citations: 5     Fields:    Translation:HumansAnimals
  15. 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. PMID: 28229513.
    Citations: 3     Fields:    Translation:Humans
  16. 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. PMID: 28408159.
    Citations: 1     Fields:    Translation:Humans
  17. 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. PMID: 27535533.
    Citations: 1345     Fields:    Translation:Humans
  18. O'Donnell-Luria AH, Miller DT. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. PMID: 27126233.
    Citations: 2     Fields:    Translation:Humans
  19. 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. PMID: 26940866.
    Citations: 51     Fields:    Translation:Humans
  20. 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. PMID: 26791950.
    Citations: 41     Fields:    Translation:Humans
  21. Hirshkowitz M, Whiton K, Albert SM, Alessi C, Bruni O, DonCarlos L, Hazen N, Herman J, Adams Hillard PJ, Katz ES, Kheirandish-Gozal L, Neubauer DN, O'Donnell AE, Ohayon M, Peever J, Rawding R, Sachdeva RC, Setters B, Vitiello MV, Ware JC. National Sleep Foundation's updated sleep duration recommendations: final report. Sleep Health. 2015 Dec; 1(4):233-243. PMID: 29073398.
    Citations: 29     Fields:    
  22. 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. PMID: 26238514.
    Citations: 12     Fields:    Translation:Humans
  23. 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. PMID: 25517026.
    Citations: 5     Fields:    Translation:Humans
  24. Hirshkowitz M, Whiton K, Albert SM, Alessi C, Bruni O, DonCarlos L, Hazen N, Herman J, Katz ES, Kheirandish-Gozal L, Neubauer DN, O'Donnell AE, Ohayon M, Peever J, Rawding R, Sachdeva RC, Setters B, Vitiello MV, Ware JC, Adams Hillard PJ. National Sleep Foundation's sleep time duration recommendations: methodology and results summary. Sleep Health. 2015 Mar; 1(1):40-43. PMID: 29073412.
    Citations: 89     Fields:    
  25. 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. PMID: 25960928.
    Citations: 2     
  26. 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. PMID: 25364291; PMCID: PMC4214183.
    Citations: 9     Fields:    Translation:HumansCells
  27. 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. PMID: 25092244.
    Citations: 26     Fields:    Translation:HumansAnimalsCells
  28. 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. PMID: 24557656.
    Citations: 4     Fields:    Translation:Humans
  29. 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. PMID: 22140101; PMCID: PMC3245019.
    Citations: 19     Fields:    Translation:HumansAnimalsCells
  30. 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. PMID: 22048252; PMCID: PMC3775885.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  31. 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. PMID: 20488932; PMCID: PMC2892098.
    Citations: 66     Fields:    Translation:HumansAnimalsCells
  32. Ooi SK, O'Donnell AH, Bestor TH. Mammalian cytosine methylation at a glance. J Cell Sci. 2009 Aug 15; 122(Pt 16):2787-91. PMID: 19657014; PMCID: PMC2724605.
    Citations: 99     Fields:    Translation:HumansAnimalsCells
  33. 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. PMID: 17376869; PMCID: PMC1838490.
    Citations: 73     Fields:    Translation:HumansAnimalsCells
  34. O'donnell AH, Yao X, Byers LD. Solvent isotope effects on alpha-glucosidase. Biochim Biophys Acta. 2004 Dec 01; 1703(1):63-7. PMID: 15588703.
    Citations: 1     Fields:    Translation:AnimalsCells
  35. 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. PMID: 12183412.
    Citations: 51     Fields:    Translation:HumansCells
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.