
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 Imperforate Anus. 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 Imperforate Anus.
Insurance
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Accepted insurance plans:
- EPO
- HMO
- POS
- PPO
- HMO
- POS
- PPO
- EPO
- HMO
- PPO
- INSURANCE PLAN
- MEDICARE PDP
- PPO
- HMO
- POS
- PPO
- HMO
- INDEMNITY
- POS
- PPO
Locations
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.
1 Clinical Trials
Marc Levitt is a Colorectal Surgeon and a Pediatric Surgeon in Washington, Washington, D.c.. Dr. Levitt is rated as an Elite provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Hirschsprung Disease, Bowel Incontinence, Total Intestinal Aganglionosis, Colostomy, and Ileostomy. Dr. Levitt is currently accepting new patients.
Rubenstein Child Health Building
Dr. Heather Noelle Di Carlo is an associate professor of urology at the Johns Hopkins University School of Medicine. She treats all pediatric urological disorders in young males and females while specializing in renal sparing surgery and complex reconstruction of the genitourinary tract in patients with the exstrophy-epispadias complex, disorders of sexual development (DSD) and other congenital anomalies. She serves as the Director of Pediatric Urology Research and is the interim Division Director of Pediatric Urology. A native of New York, Dr. Di Carlo graduated from Emory University with a B.S. in neuroscience and music, and the State University of New York at Stony Brook School of Medicine. Following general surgery and urology residency training at Stony Brook Medical Center, she completed a pediatric urology fellowship at the James Buchanan Brady Urological Institute. Dr. Di Carlo has special clinical and basic science interests in the exstrophy-epispadias complex, spina bifida and renal transplantation. Dr. Di Carlo is rated as an Elite provider by MediFind in the treatment of Imperforate Anus. Her top areas of expertise are Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Cloacal Exstrophy, Bladder Reconstruction, and Osteotomy.
Johns Hopkins University
Dr. John P. Gearhart is a professor of pediatrics and urology at the Johns Hopkins School of Medicine. His clinical and surgical interests focus on the evaluation and treatment of children born with major congenital birth defects, bladder exstrophy, disorders of sexual development and childhood urinary cancers. Dr. Gearhart received his M.D. from the University of Louisville School of Medicine in 1975. After an internship in surgery and residencies in surgery and urology at the Medical College of Georgia, he completed a fellowship in pediatric urology at Alder Hey Children's Hospital of the University of Liverpool School of Medicine in 1981. Following two years as a urologist at St. Mary's Hospital in Huntington, West Virginia, he completed a second fellowship in pediatric urology at Johns Hopkins in 1985 and joined the Johns Hopkins faculty thereafter as an associate professor of pediatric urology. Over the course of his distinguished career, Dr. Gearhart has been lauded as a pioneer in pediatric urology and reconstructive genitourinary surgery. He has published extensively and has received numerous awards and guest lectureships. He is a member of several national and international professional organizations and is a founding member of the Society of Reconstructive Genitourinary Surgeons. Dr. Gearhart is rated as an Elite provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Cloacal Exstrophy, Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Osteotomy, and Bladder Reconstruction.
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.
Learn more about MediFind’s expert tiers
- Elite
- Spondyloepimetaphyseal Dysplasia Strudwick TypeDr. De Macena Sobreira isElite. Learn about Spondyloepimetaphyseal Dysplasia Strudwick Type.
- Distinguished
- BlepharophimosisDr. De Macena Sobreira isDistinguished. Learn about Blepharophimosis.
- Early Infantile Epileptic EncephalopathyDr. De Macena Sobreira isDistinguished. Learn about Early Infantile Epileptic Encephalopathy.
- Greenberg DysplasiaDr. De Macena Sobreira isDistinguished. Learn about Greenberg Dysplasia.
- Advanced
- Achalasia Microcephaly SyndromeDr. De Macena Sobreira isAdvanced. Learn about Achalasia Microcephaly Syndrome.
- Acrofacial Dysostosis Rodriguez TypeDr. De Macena Sobreira isAdvanced. Learn about Acrofacial Dysostosis Rodriguez Type.
- Acrofrontofacionasal Dysostosis SyndromeDr. De Macena Sobreira isAdvanced. Learn about Acrofrontofacionasal Dysostosis Syndrome.
- Brachydactyly Mononen TypeDr. De Macena Sobreira isAdvanced. Learn about Brachydactyly Mononen Type.
- Cardiomyopathy Hypogonadism Metabolic AnomaliesDr. De Macena Sobreira isAdvanced. Learn about Cardiomyopathy Hypogonadism Metabolic Anomalies.
- ChondrodystrophyDr. De Macena Sobreira isAdvanced. Learn about Chondrodystrophy.
- Experienced
- AchondroplasiaDr. De Macena Sobreira isExperienced. Learn about Achondroplasia.
- AcrocephalopolydactylyDr. De Macena Sobreira isExperienced. Learn about Acrocephalopolydactyly.
- Acromicric DysplasiaDr. De Macena Sobreira isExperienced. Learn about Acromicric Dysplasia.
- AniridiaDr. De Macena Sobreira isExperienced. Learn about Aniridia.
- Anophthalmia Plus SyndromeDr. De Macena Sobreira isExperienced. Learn about Anophthalmia Plus Syndrome.
- Apert SyndromeDr. De Macena Sobreira isExperienced. Learn about Apert Syndrome.

