Leslie Biesecker is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Biesecker is rated as an Elite provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Proteus Syndrome, Proteus-Like Syndrome, Acromicric Dysplasia, and Lenz Microphthalmia Syndrome.

Thomas Darling is a Dermatologist in Bethesda, Maryland. Dr. Darling is rated as a Distinguished provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Mosaicism, Acromicric Dysplasia, Linear Hamartoma Syndrome, and Hirsutism in Women.

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 Advanced provider by MediFind in the treatment of Acromicric Dysplasia. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

Bart Loeys is a Radiologist in Baltimore, Maryland. Dr. Loeys is rated as an Advanced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Acromicric Dysplasia, Spontaneous Coronary Artery Dissection (SCAD), Ectodermal Dysplasias, and Clouston Syndrome.

Shawn Standard is an Orthopedics provider in Baltimore, Maryland. Dr. Standard is rated as an Advanced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Congenital Femoral Deficiency, Legg-Calve-Perthes Disease (LCPD), Achondroplasia, Absence of Tibia, and Osteotomy. Dr. Standard is currently accepting new patients.

John Herzenberg is an Orthopedics provider in Baltimore, Maryland. Dr. Herzenberg is rated as an Advanced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Congenital Femoral Deficiency, Clubfoot, Absence of Tibia, Tenotomy, and Osteotomy.

Mark Myerson is an Orthopedics specialist and a Podiatric Surgeon in Baltimore, Maryland. Dr. Myerson is rated as an Advanced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Flat Feet, High Arch, Accessory Navicular Bone, Osteotomy, and Bone Graft.

Guney Yilmaz is an Orthopedics provider in Baltimore, Maryland. Dr. Yilmaz is rated as an Advanced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Multiple Epiphyseal Dysplasia, Collins Pope Syndrome, Brachydactyly Type B, Tenotomy, and Osteotomy.

Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

Dr. Jill A. Fahrner is an assistant professor in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University School of Medicine. Her area of clinical expertise is medical genetics. Dr. Fahrner earned her Ph.D. from Johns Hopkins University and her M.D. from the University of North Carolina. She completed pediatrics residency training at Duke University Medical Center. She joined the McKusick-Nathans Institute of Genetic Medicine as a genetic medicine resident in 2009 and completed her training in 2012. She stayed on as chief resident from 2012-2013 and then joined the faculty as an assistant professor in the Department of Pediatrics within the McKusick-Nathans Institute of Genetic Medicine in 2013. Her current primary appointment is Assistant Professor in the Department of Genetic Medicine, where she is Director of the multidisciplinary Epigenetics and Chromatin Clinic. She is a physician-scientist with a long-standing interest in epigenetic mechanisms of disease. Her clinical focus is on caring for individuals with epigenetic and chromatin disorders, specifically Mendelian disorders of the epigenetic machinery, or chromatin modifying disorders. She has seen hundreds of individuals with congenital disorders involving disrupted epigenetics, most of which exhibit neurodevelopmental disabilities and abnormal growth. Her laboratory research is focused on understanding disease mechanisms and developing therapies for select Mendelian disorders of the epigenetic machinery. She is a member of the American Society of Human Genetics (ASHG), having won an ASHG Reviewer’s Choice Abstract Award for her work on growth retardation in Kabuki syndrome 1. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Johns Hopkins School of Medicine Musculoskeletal Pilot and Feasibility Award, a William and Ella Owens Medical Research Foundation Award, the Margaret Ellen Nielsen Fellowship Award, and the Alice and YT Chen Travel Award while at Johns Hopkins. She is the recipient of a prestigious Hartwell Foundation Individual Biomedical Research Award and also has ongoing research funding from the National Institutes of Health. Dr. Fahrner is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.

Dr. Howard Lederman is a professor of pediatrics at the Johns Hopkins University School of Medicine. He is the director of the Immunodeficiency Clinic, the Pediatric Immunology Laboratory, and the Ataxia-Telangiectasia (A-T) Clinical Center. Dr. Lederman specializes in the evaluation, diagnostic testing and long-term management of patients of all ages who have known or suspected primary immunodeficiency diseases. He is an expert on the use of gamma globulin therapy for a wide variety of disorders. After receiving his M.D. and Ph.D. from the University of Michigan, Dr. Lederman came to Johns Hopkins Children’s Center for a residency in pediatrics, followed by a fellowship in immunology at the Hospital for Sick Children in Toronto. Dr. Lederman’s current research laboratory and clinical research focuses on better understanding and treating patients with ataxia-telangiectasia, a devastating neurological disorder for which there is no cure. He is a member of numerous professional societies, including American Association of Immunologists, the American Society for Microbiology and the Clinical Immunology Society. Dr. Lederman is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Common Variable Immune Deficiency, X-Linked Agammaglobulinemia, Immunodeficiency with Hyper IgM Type 1, and Hyper IgE Syndrome.

Plastic and reconstructive surgeon Barkat Ali cares for patients requiring complex reconstructive surgery after trauma and cancer, or those seeking cosmetic plastic surgery such as body contouring. Dr. Ali has a wealth of surgical experience treating patients and a strong commitment to patient-centered care. Dr. Ali earned his medical degree from Agha Khan University Medical College in Pakistan, and completed residency programs in general surgery and plastic surgery at the University of New Mexico School of Medicine. He also completed fellowships in hand surgery at the Christine M. Kleinert Institute for Hand and Micro Surgery at the University of Louisville School of Medicine, and a fellowship in reconstructive microsurgery at Memorial Sloan Kettering Cancer Center. Dr. Ali is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Apert Syndrome, Acrocephalopolydactyly, Saethre-Chotzen Syndrome, Glossectomy, and Mastectomy.

Dr. Eric Jackson specializes in the evaluation and treatment of patients with a broad range of neurosurgical disorders, including congenital malformations of the brain and spine, hydrocephalus (including endoscopic treatment), chiari malformation, craniosynostosis, spinal dysraphism/tethered cord, brain and spinal cord tumors, and traumatic brain injuries. He is the Principal Investigator for several multi-institution research studies, including: Hydrocephalus Clinical Research Network: currently investigating endoscopic surgery vs shunting for the treatment of hydrocephalus in infants in a $10M randomized trial funded by the NIH Park Reeves Syringomyelia Research Consortium Advancing the treatment for pediatric craniopharyngioma, identifying biological targets for molecular therapy A multi-institutional trial investigating a non-invasive eye tracking device for assessing increased intracranial pressure. Dr. Jackson is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Hydrocephalus, Chiari Malformation, Chiari Malformation Type 2, Posterior Fossa Decompression, and Endoscopy.

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 Acromicric Dysplasia. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Valeriy Shubinets is a Plastic Surgeon and a Hand Surgeon in Baltimore, Maryland. Dr. Shubinets is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Syndactyly Type 2, Trigger Thumb, Carpal Tunnel Syndrome, Osteotomy, and Tissue Biopsy. Dr. Shubinets is currently accepting new patients.

Philip Mcclure is an Orthopedics specialist and a Pediatric Orthopedics provider in Baltimore, Maryland. Dr. Mcclure is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Clubfoot, Congenital Femoral Deficiency, Osteolysis Syndrome Recessive, Osteotomy, and Bone Graft. Dr. Mcclure is currently accepting new patients.

Maximilian Muenke is a Medical Genetics provider in Bethesda, Maryland. Dr. Muenke is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Holoprosencephaly, Turner Syndrome, Craniosynostosis, and Corpus Callosum Agenesis.

Maksim Shlykov is an Orthopedics provider in Baltimore, Maryland. Dr. Shlykov is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Acromicric Dysplasia, Cervical Spondylosis, Cervical Myelopathy, Compartment Syndrome, and Gastrostomy. Dr. Shlykov is currently accepting new patients.

Juan Baez is a Pediatric Radiologist and a Radiologist in Rockville, Maryland. Dr. Baez is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. His top areas of expertise are Congenital Athymia, Scoliosis, Appendicitis, and Hypoplasia of the Tibia with Polydactyly.

Jennifer Johnston is a Pediatrics provider in Baltimore, Maryland. Dr. Johnston is rated as an Experienced provider by MediFind in the treatment of Acromicric Dysplasia. Her top areas of expertise are Cerebral Hypoxia, Multicentric Carpotarsal Osteolysis Syndrome, Greenberg Dysplasia, and Pycnodysostosis.