Nara Lygia De Macena Sobreira, M.D., Ph.D.

Headshot of Nara Lygia De Macena Sobreira
  • Associate Professor of Genetic Medicine

Languages: English, Portuguese


Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants.

She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins.

Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. 

She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. more


  • Associate Professor of Genetic Medicine
  • Associate Professor of Pediatrics

Departments / Divisions



  • MD; University of Pernambuco (2003)


  • Clinical Genetics; Johns Hopkins University School of Medicine (2015)
  • Clinical Genetics; Universidade Federal de Sao Paulo (2007)

Board Certifications

  • American Board of Medical Genetics and Genomics (Clinical Genetics (MD)) (2015)

Additional Training

  • Brazilian Society of Clinical Genetics / Brazilian Board of Medical Genetics
  • ACMG / American Board of Medical Genetics and Genomics

Research & Publications

Technology Expertise Keywords

Exome; Genome Sequencing; Long-read Genome Sequencing; RNA Sequencing; Functional Studies

Selected Publications

View all on PubMed

El Abiad JM, Robbins SM, Cohen B, Levin AS, Valle DL, Morris CD, de Macena Sobreira NL.  Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. Am J Med Genet A. 2020 Mar 7. PMID: 32144835

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 Jul 6;8:16077. PMID: 28681861. PMCID: PMC5504296

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; Centers for Mendelian Genomics. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 Apr;21(4):798-812. PMCID: PMC6691975

Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Björk HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME; Baylor-Hopkins Center for Mendelian Genomics; MIBAVA Leducq Consortium, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet. 2019 Jan;51(1):42-50. PMID: 30455415. PMCID:PMC6309588

Academic Affiliations & Courses

Graduate Program Affiliation

Human Genetic Program - Johns Hopkins University

Courses and Syllabi

  • TIME course Genomic Medicine – Johns Hopkins School of Medicine
  • Annual Short Course on Medical and Experimental Mammalian Genetics. Bar Harbor, Maine
  • Brazilian Society of Clinical Genetics/DASA(GeneOne) – Genomic Medicine Course

Activities & Honors


  • FASEB MARC Program Travel Award - ASHG 2009 Annual Meeting., FASEB, 2009
  • Individual Research Fellowship Award Number F31HD068133 from the Eunice Kennedy Shriver National Institute of Child Health & Human Development., NIH, 2011 - 2014
  • Emerging Women’s Leadership Program, Johns Hopkins University, 2016
  • Junior Faculty Leadership Program, Johns Hopkins University, 2016 - 2017
  • Leadership Program for Women Faculty (LPWF) at the School of Medicine., Johns Hopkins University, 2021

Videos & Media

Recent News Articles and Media Coverage

Living the Hopkins Mission Honorees, Johns Hopkins Medicine

Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018)

Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019)

2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021)

Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020)

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