Nara L. De Macena Sobreira
Experienced in Pierre Robin Sequence

Dr. Nara L. De Macena Sobreira

Medical Genetics | Pediatrics
Johns Hopkins Medicine
Rubenstein Child Health Building
Baltimore, MD 

Experienced in Pierre Robin Sequence
Johns Hopkins Medicine
Rubenstein Child Health Building
Baltimore, MD 
OverviewInsuranceLocationsClinical ResearchSimilar Doctors

Overview

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. 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).

Dr. De Macena Sobreira is rated as an Experienced provider by MediFind in the treatment of Pierre Robin Sequence. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Her clinical research consists of co-authoring 105 peer reviewed articles and participating in 1 clinical trial. MediFind looks at clinical research from the past 15 years. In particular, she has co-authored 1 article in the study of Pierre Robin Sequence.

Graduate Institution
Johns Hopkins University School Of Medicine, PhD, 2012
Residency
Johns Hopkins University School of Medicine, Clinical Genetics, 2015
Specialties
Medical Genetics
Pediatrics
Licenses
Clinical Genetics in MD
Board Certifications
American Board Of Medical Genetics And Genomics
Languages Spoken
English
Portuguese
Gender
Female

Insurance

Accepted insurance can change. Please verify directly with the provider.

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Aetna
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  • INDEMNITY
  • POS
  • PPO
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Locations

Rubenstein Child Health Building
Rubenstein BLDG Lower Level, Baltimore, MD 21287
Call: 443-287-9494

Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Providers who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.


1 Clinical Trials

A Phase 2, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Palovarotene in Subjects With Multiple Osteochondromas
A Phase 2, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Palovarotene in Subjects With Multiple Osteochondromas
Enrollment Status: Terminated
Publish Date: August 01, 2022
Intervention Type: Other, Drug
Study Phase: Phase 2

105 Total Publications

CACNA1D is a circadian gene and causes familial advanced sleep phase.
CACNA1D is a circadian gene and causes familial advanced sleep phase.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 03, 2025
View All 105 Publications
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Rubenstein Child Health Building

200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
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 (1.2 miles away)
443-287-9494
Languages Spoken:
English
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Dr. Julie Hoover-Fong is a Professor of Genetic Medicine and Pediatrics and Director of the Greenberg Center for Skeletal Dysplasias at Johns Hopkins University. Dr. Hoover-Fong holds a bachelor’s degree in Human Nutrition from The Ohio State University, where she also completed her medical degree. She received her Ph.D. in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002 and progressed to Professor of Genetic Medicine and Pediatrics in 2019. She practices and oversees the clinical operations, research and educational ventures for the patients, families and healthcare providers served by the Greenberg Center. Her clinical team develops and improves diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions including dwarfism, orofacial clefting, craniosynostosis and more. Dr. Hoover-Fong also mentors and teaches medical students, residents and genetic medicine trainees. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of multiple global clinical trials for achondroplasia, the first multi-center, investigator-initiated natural history study for achondroplasia, and multiple clinical studies for patients with orofacial clefting, hypophosphatasia and other conditions. She is also a co-investigator on the ELSI and Phenotype Review Committees for the Mendel Project, a whole exome sequencing venture to identify the genetic cause of Mendelian conditions. From an institutional service perspective, Dr. Hoover-Fong serves on the Johns Hopkins Associate Professor Promotions Committee and the Advisory Committee for the Graduate Training Program in Clinical Investigation. She serves on the Medical Advisory Board of the Little People of America, is a member of the Miller-Coulson Academy of Clinical Excellence at Johns Hopkins University and is a charter member of the International Skeletal Dysplasia Management Consortium, publishing best practice guidelines for patients with skeletal dysplasias. Dr. Hoover is rated as an Elite provider by MediFind in the treatment of Pierre Robin Sequence. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

Advanced in Pierre Robin Sequence
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Languages Spoken:
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Natasha Shur is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Shur is rated as an Advanced provider by MediFind in the treatment of Pierre Robin Sequence. Her top areas of expertise are Pyruvate Carboxylase Deficiency, Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), and Lowe Syndrome.

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Areas of Expertise

MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.

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Find Dr. De Macena Sobreira's expertise for a condition
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  • Elite
  • Spondyloepimetaphyseal Dysplasia Strudwick Type
    Dr. De Macena Sobreira is
    Elite
    . Learn about Spondyloepimetaphyseal Dysplasia Strudwick Type.
    See more Spondyloepimetaphyseal Dysplasia Strudwick Type experts
  • Distinguished
  • Blepharophimosis
    Dr. De Macena Sobreira is
    Distinguished
    . Learn about Blepharophimosis.
    See more Blepharophimosis experts
  • Early Infantile Epileptic Encephalopathy
    Dr. De Macena Sobreira is
    Distinguished
    . Learn about Early Infantile Epileptic Encephalopathy.
    See more Early Infantile Epileptic Encephalopathy experts
  • Greenberg Dysplasia
    Dr. De Macena Sobreira is
    Distinguished
    . Learn about Greenberg Dysplasia.
    See more Greenberg Dysplasia experts
  • Advanced
  • Achalasia Microcephaly Syndrome
    Dr. De Macena Sobreira is
    Advanced
    . Learn about Achalasia Microcephaly Syndrome.
    See more Achalasia Microcephaly Syndrome experts
  • Acrofacial Dysostosis Rodriguez Type
    Dr. De Macena Sobreira is
    Advanced
    . Learn about Acrofacial Dysostosis Rodriguez Type.
    See more Acrofacial Dysostosis Rodriguez Type experts
  • Acrofrontofacionasal Dysostosis Syndrome
    Dr. De Macena Sobreira is
    Advanced
    . Learn about Acrofrontofacionasal Dysostosis Syndrome.
    See more Acrofrontofacionasal Dysostosis Syndrome experts
  • Brachydactyly Mononen Type
    Dr. De Macena Sobreira is
    Advanced
    . Learn about Brachydactyly Mononen Type.
    See more Brachydactyly Mononen Type experts
  • Cardiomyopathy Hypogonadism Metabolic Anomalies
    Dr. De Macena Sobreira is
    Advanced
    . Learn about Cardiomyopathy Hypogonadism Metabolic Anomalies.
    See more Cardiomyopathy Hypogonadism Metabolic Anomalies experts
  • Chondrodystrophy
    Dr. De Macena Sobreira is
    Advanced
    . Learn about Chondrodystrophy.
    See more Chondrodystrophy experts
View All 20 Advanced Conditions
  • Experienced
  • Achondroplasia
    Dr. De Macena Sobreira is
    Experienced
    . Learn about Achondroplasia.
    See more Achondroplasia experts
  • Acrocephalopolydactyly
    Dr. De Macena Sobreira is
    Experienced
    . Learn about Acrocephalopolydactyly.
    See more Acrocephalopolydactyly experts
  • Acromicric Dysplasia
    Dr. De Macena Sobreira is
    Experienced
    . Learn about Acromicric Dysplasia.
    See more Acromicric Dysplasia experts
  • Aniridia
    Dr. De Macena Sobreira is
    Experienced
    . Learn about Aniridia.
    See more Aniridia experts
  • Anophthalmia Plus Syndrome
    Dr. De Macena Sobreira is
    Experienced
    . Learn about Anophthalmia Plus Syndrome.
    See more Anophthalmia Plus Syndrome experts
  • Apert Syndrome
    Dr. De Macena Sobreira is
    Experienced
    . Learn about Apert Syndrome.
    See more Apert Syndrome experts
View All 45 Experienced Conditions
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