Nara L. De Macena Sobreira
Expertise in
24
conditions
Expertise in
24
conditions

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 highly rated in 24 conditions, according to our data. Her clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Dr. De Macena Sobreira is board certified in American Board Of Medical Genetics And Genomics. She is actively involved in clinical research, co-authoring 107 peer reviewed articles and participating in 1 clinical trial.

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

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.


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Rubenstein Child Health Building

200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
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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 highly rated in 26 conditions, according to our data. Her clinical expertise encompasses Rhizomelic Syndrome, Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy. Dr. Hoover is board certified in American Board Of Medical Genetics And Genomics.

Frequently Asked Questions about Dr. Nara L. De Macena Sobreira

How do I make an appointment with Dr. Nara L. De Macena Sobreira?

You can book an appointment with Dr. Nara L. De Macena Sobreira by calling their office at 443-287-9494. MediFind provides direct contact information so you can schedule visits, second opinions, or consultations without navigating third-party calendars.

Is Dr. Nara L. De Macena Sobreira a top-rated expert for Spondyloepimetaphyseal Dysplasia Strudwick Type?

MediFind is an objective health platform that identifies experts based on real-world data. Dr. Nara L. De Macena Sobreira is classified as an Elite expert for Spondyloepimetaphyseal Dysplasia Strudwick Type, meaning they are among the top experts in the country for this condition. This ranking is based on their volume of patients, published research, and peer connections.

What conditions does Dr. Nara L. De Macena Sobreira specialize in?

While Dr. Nara L. De Macena Sobreira is a Medical Genetics, they have specific expertise in Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, and Blepharophimosis. MediFind analyzes a doctor's articles and referral patterns to identify their specific areas of focus within Medical Genetics.

Does Dr. Nara L. De Macena Sobreira participate in research or clinical trials?

Yes. Dr. Nara L. De Macena Sobreira has published 107 articles and abstracts on conditions like Spondyloepimetaphyseal Dysplasia Strudwick Type. You can view a list of Dr. Nara L. De Macena Sobreira's latest peer-reviewed publications and clinical trial participation on their profile to see if they are active in new treatments.

Does Dr. Nara L. De Macena Sobreira accept my insurance?

Dr. Nara L. De Macena Sobreira accepts most major insurance plans, including Aetna and CareFirst. We recommend calling the office directly at 443-287-9494 to verify that your specific plan is currently accepted before your visit.

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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