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 Advanced provider by MediFind in the treatment of Coloboma. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Emily Li, M.D., is an oculoplastic and reconstructive surgeon at the Wilmer Eye Institute’s locations in Water’s Edge, White Marsh and Baltimore, Maryland. Dr. Li specializes in functional and cosmetic surgeries of the eyelids, forehead and face. She also performs surgeries of the tear drainage system, surgeries in the eye socket and endoscopic procedures. She has experience treating patients of all ages, ranging from children to adult patients having oculoplastic surgery. After earning undergraduate and medical degrees from the eight-year combined baccalaureate-medical Program in Liberal Medical Education (PLME) at Brown University, Dr. Li completed ophthalmology residency training at Yale University. She subsequently underwent subspecialty training by completing the American Society of Ophthalmic Plastic and Reconstructive Surgery (ASOPRS) fellowship at the University of Washington. Dr. Li is rated as an Experienced provider by MediFind in the treatment of Coloboma. Her top areas of expertise are Orbital Cellulitis, Periorbital Cellulitis, Ptosis, Eyelid Drooping, and Tissue Biopsy.

Ashley Behrens, M.D., is the Edward St. John Professor in Ophthalmology and chief of the comprehensive ophthalmology division at the Wilmer Eye Institute, Johns Hopkins Medicine. He specializes in the medical and surgical management of cataracts and corneal diseases, including corneal transplantation techniques for Fuchs’ dystrophy and keratoconus, as well as LASIK, PRK and refractive lens exchange. Dr. Behrens received his medical degree from the Universidad Central de Venezuela in Caracas, and completed his ophthalmology residency and fellowship training at the Francisco Risquez Hospital. He completed additional fellowships at the University of Erlangen-Nuremberg in Germany, where he obtained his German Doctorate with Magna Cum Laude Distinction, and then at the University of Southern California and the University of California, Irvine. Dr. Behrens joined the Wilmer faculty in 2003, and served as executive medical director at the King Khaled Eye Specialist Hospital (KKESH), Wilmer’s affiliate hospital in Saudi Arabia, from July 2010 through August 2014. Dr. Behrens is rated as an Experienced provider by MediFind in the treatment of Coloboma. His top areas of expertise are Interstitial Keratitis, Cataract, Optic Atrophy Type 1, Vitrectomy, and Cataract Removal.

Kimberly Neutze-Heaney is an Ophthalmologist in Baltimore, Maryland. Dr. Neutze-Heaney is rated as an Experienced provider by MediFind in the treatment of Coloboma. Her top areas of expertise are Amblyopia, Strabismus, Astigmatism, and Nearsightedness. Dr. Neutze-Heaney is currently accepting new patients.

Janet Alexander is an Ophthalmologist and a General Surgeon in Baltimore, Maryland. Dr. Alexander is rated as an Experienced provider by MediFind in the treatment of Coloboma. Her top areas of expertise are Congenital Cataract, Retinopathy of Prematurity, Amblyopia, Trabeculectomy, and Cataract Removal. Dr. Alexander is currently accepting new patients.

Jana Friedman is an Ophthalmologist in Baltimore, Maryland. Dr. Friedman is rated as an Experienced provider by MediFind in the treatment of Coloboma. Her top areas of expertise are Strabismus, Amblyopia, Esotropia, and Epicanthal Folds. Dr. Friedman is currently accepting new patients.

Allison Jensen is an Ophthalmologist in Baltimore, Maryland. Dr. Jensen is rated as an Experienced provider by MediFind in the treatment of Coloboma. Her top areas of expertise are Strabismus, Amblyopia, Epicanthal Folds, and Esotropia. Dr. Jensen is currently accepting new patients.

Sidney Schechet is an Ophthalmologist in Baltimore, Maryland. Dr. Schechet is rated as an Experienced provider by MediFind in the treatment of Coloboma. His top areas of expertise are Age-Related Macular Degeneration (ARMD), Late-Onset Retinal Degeneration, Diabetic Retinopathy, Retinal Detachment, and Vitrectomy. Dr. Schechet is currently accepting new patients.

Irene Maumenee is an Ophthalmologist in Lutherville, Maryland. Dr. Maumenee is rated as an Experienced provider by MediFind in the treatment of Coloboma. Her top areas of expertise are Knobloch Syndrome, Micropthalmia Associated with Colobomatous Cyst, Leber Congenital Amaurosis, and Microphthalmia.

Mark Preslan is an Ophthalmologist in Glen Burnie, Maryland. Dr. Preslan is rated as an Experienced provider by MediFind in the treatment of Coloboma. His top areas of expertise are Strabismus, Amblyopia, X-Linked Infantile Nystagmus, and Esotropia. Dr. Preslan is currently accepting new patients.

Arturo Betancourt is an Ophthalmologist in Glen Burnie, Maryland. Dr. Betancourt is rated as an Experienced provider by MediFind in the treatment of Coloboma. His top areas of expertise are Cataract, Dry Eye Syndrome, Glaucoma, Blepharitis, and Cataract Removal. Dr. Betancourt is currently accepting new patients.