Nara L. De Macena Sobreira
Experienced in Delayed Growth

Dr. Nara L. De Macena Sobreira

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

Experienced in Delayed Growth
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 Delayed Growth. 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 2 articles in the study of Delayed Growth.

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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Accepted insurance plans:

Aetna
  • EPO
  • HMO
  • POS
  • PPO
CareFirst
  • HMO
  • POS
  • PPO
Cigna
  • EPO
  • HMO
  • PPO
First Health
  • INSURANCE PLAN
  • MEDICARE PDP
  • PPO
Geisinger
  • HMO
  • POS
  • PPO
Humana
  • HMO
  • 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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Hilary J. Vernon
Advanced in Delayed Growth
Dr. Hilary J. Vernon
Medical Genetics
Advanced in Delayed Growth
Dr. Hilary J. Vernon
Medical Genetics

Rubenstein Child Health Building

Baltimore, MD 
 (1.2 miles away)
443-287-9494
Languages Spoken:
English, Spanish
See accepted insurances

Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as a Distinguished provider by MediFind in the treatment of Delayed Growth. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

Advanced in Delayed Growth
Dr. Giovanni Impeduglia
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Advanced in Delayed Growth
Dr. Giovanni Impeduglia
Pediatrics
11161 New Hampshire Ave, Ste 301, 
Silver Spring, MD 
 (27.7 miles away)
301-681-7101
Languages Spoken:
English, Italian, Spanish
See accepted insurances
Accepting New Patients

Giovanni Impeduglia is a Pediatrics provider in Silver Spring, Maryland. Dr. Impeduglia is rated as an Advanced provider by MediFind in the treatment of Delayed Growth. His top areas of expertise are Obesity in Children, Delayed Growth, Stork Bite, and Vascular Birthmark. Dr. Impeduglia is currently accepting new patients.

Chana Richter
Advanced in Delayed Growth
Dr. Chana Richter
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Advanced in Delayed Growth
Dr. Chana Richter
Pediatrics

JHCP Remington

Baltimore, MD 
 (3.4 miles away)
667-312-2400
Languages Spoken:
English, Hebrew
See accepted insurances

Dr. Chana Richter is a pediatrician at the Kennedy Krieger Institute, with a focus in developmental disabilities. She works at the Center for Autism and Related Disorders, primarily focusing on new diagnosis of Autism Spectrum Disorders. Dr. Richter received her Bachelors in Science from Touro University/Lander College of Arts and Sciences, and completed her Masters in Education and Special Education through Touro as well. She taught children of varying ages and abilities, and was the Assistant Director of a school for children with special needs for several years. Dr. Richter studied medicine at the Sackler School of Medicine at Tel Aviv University. She completed residency in Pediatrics at the Johns Hopkins Hospital and focused training in the diagnosis and care of children with autism at the Kennedy Krieger Institute. Her current focus is bridging the gap to diagnosis of autism and initiation of supportive treatment, as well identifying barriers to diagnosis. Dr. Richter is rated as an Advanced provider by MediFind in the treatment of Delayed Growth. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, and Developmental Dysphasia Familial.

VIEW MORE DELAYED GROWTH DOCTORS

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.
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  • 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.
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View All 20 Advanced Conditions
  • Experienced
  • Achondroplasia
    Dr. De Macena Sobreira is
    Experienced
    . Learn about Achondroplasia.
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  • 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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