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

Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is highly rated in 14 conditions, according to our data. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.

Hans Bjornsson is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Bjornsson is highly rated in 7 conditions, according to our data. His top areas of expertise are Kabuki Syndrome, Weaver Syndrome, 3MC Syndrome, Coffin-Lowry Syndrome, and Orchiectomy. Dr. Bjornsson is currently accepting new patients.

Dr. Visvanathan is a Professor on faculty at Johns Hopkins. She is a practicing medical oncologist and cancer epidemiologist focused on translating discoveries to the clinic and population as a whole. She directs the Clinical Cancer Genetics and Prevention service at Johns Hopkins Sidney Kimmel Comprehensive Cancer Center (SKCCC) and is an active member of the Breast and Ovarian Program and Cancer Prevention and Control Program. Dr. Visvanathan is also Director of the Cancer Epidemiology Track in the Department of Epidemiology at Johns Hopkins Bloomberg School of Public Health. With her research centered on primary and secondary prevention of breast and ovarian cancer, her goal is to reduce the incidence of and mortality from breast cancer globally by conducting impactful studies at the local, national, and international levels. Specifically, she focuses on the identification of atrisk groups, potential biomarkers of risk and prognosis and evaluation of preventive agents across the continuum. She conducts both observational studies and early phase clinical trials. She also teaches and mentors the next generation of clinicians and cancer researchers. Dr. Visvanathan has also served on national committees focused on Breast Cancer Risk Reduction, Breast Cancer Genetics and Cancer Disparities. She has also co-chaired National Guidelines on Breast Cancer Endocrine Prevention. Locally, serving on the Maryland State Cancer Council. Dr. Visvanathan received her medical degree from the University of Sydney in Australia. She subsequently went on to complete training in internal medicine and medical oncology, including a period as chief resident at Royal Prince Alfred Hospital. She then did further training in Medical Oncology at Johns Hopkins and also obtained a master’s degree in clinical/cancer epidemiology at Johns Hopkins Bloomberg School of Public Health. This was followed by a postdoctoral fellow before coming on to faculty in both the Johns Hopkins School of Medicine and Bloomberg School of Public Health. Dr. Visvanathan is highly rated in 6 conditions, according to our data. Her top areas of expertise are Breast Cancer, Ovarian Cancer, Menopause, Hormone Replacement Therapy (HRT), and Salpingo-Oophorectomy.

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is highly rated in 28 conditions, according to our data. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

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 highly rated in 12 conditions, according to our data. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

Lisa Kratz is a Medical Genetics provider in Baltimore, Maryland. Dr. Kratz is highly rated in 7 conditions, according to our data. Her top areas of expertise are Greenberg Dysplasia, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

Dr. Angie Jelin is the assistant director of prenatal genetics at the Prenatal Diagnostic Center in the Division of Maternal-Fetal Medicine and an assistant professor in the Johns Hopkins Medicine Department of Gynecology and Obstetrics. Her areas of clinical expertise include prenatal genetic counseling, fetal imaging, chorionic villus sampling and amniocentesis, with a focus on fetal complications in pregnancy. Dr. Jelin earned her medical degree from Harvard Medical School. She did her residency in obstetrics and gynecology at the University of California, San Francisco, and then remained there to complete a maternal-fetal medicine and genetics fellowship. In 2015, Dr. Jelin joined the Johns Hopkins faculty, at which time she also received a Building Interdisciplinary Research Careers in Women’s Health grant to study fetal genetic disorders. Dr. Jelin’s research involves fetal imaging and genetic diagnoses, including whole exome sequencing. Dr. Jelin is a member of the American College of Obstetricians and Gynecologists, the Society of Maternal-Fetal Medicine and the International Society of Prenatal Diagnosis. She currently serves on the IRB committee of the American Board of Obstetrics and Gynecology. Dr. Jelin has published many articles in obstetrics and maternal-fetal medicine journals. Dr. Jelin is highly rated in 6 conditions, according to our data. Her top areas of expertise are Polyhydramnios, Bilateral Renal Agenesis Dominant Type, Lung Agenesis, and Atresia of Small Intestine.

Antonie Kline is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Kline is highly rated in 4 conditions, according to our data. Her top areas of expertise are Cornelia De Lange Syndrome, Micrognathia, Ehlers-Danlos Syndrome (EDS), and Crouzon Syndrome. Dr. Kline is currently accepting new patients.

Shira Ziegler is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Ziegler is highly rated in 1 condition, according to our data. Her top areas of expertise are Hypercementosis, Inborn Amino Acid Metabolism Disorder, Homocystinuria, and Maple Syrup Urine Disease.

Sofia Saenz-Ayala is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Saenz-Ayala is highly rated in 5 conditions, according to our data. Her top areas of expertise are Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Ehlers-Danlos Syndrome (EDS), Carnitine Palmitoyltransferase 1 Deficiency, and Carnitine Palmitoyltransferase 2 Deficiency. Dr. Saenz-Ayala is currently accepting new patients.

Hind Alsharhan is a Medical Genetics provider in Baltimore, Maryland. Dr. Alsharhan is highly rated in 2 conditions, according to our data. Her top areas of expertise are ALG3-CDG, Ornithine Transcarbamylase Deficiency, Coenzyme Q Cytochrome C Reductase Deficiency, and Phenylketonuria (PKU).

Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is highly rated in 2 conditions, according to our data. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita.

Denise Batista is a Medical Genetics provider in Baltimore, Maryland. Dr. Batista is highly rated in 2 conditions, according to our data. Her top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia.

Linda Jeng is a Medical Genetics provider in Baltimore, Maryland. Dr. Jeng is highly rated in 1 condition, according to our data. Her top areas of expertise are Hypotonia, Pompe Disease, Processing Deficient Progeroid Laminopathies (PDPL), and Autism Spectrum Disorder.

Andrew Feinberg studied mathematics and humanities at Yale in the Directed Studies honors program, and he received his B.A. (1973) and M.D. (1976) from the accelerated medical program at Johns Hopkins University, as well as an M.P.H. from Johns Hopkins (1981). He performed a postdoctoral fellowship in developmental biology at UCSD, clinical training in medicine at University of Pennsylvania, and genetics research and clinical training at Johns Hopkins. Dr. Feinberg is considered the founder of the field of cancer epigenetics, having discovered altered DNA methylation in cancer in the early 1980’s with Bert Vogelstein. Over the decades since, Feinberg and his colleagues have shaped the landscape of our understanding of DNA methylation and other epigenetic changes, and their applications to epidemiology and medicine, and have introduced groundbreaking statistical and laboratory methods to the study of the epigenome. He and his colleagues discovered human imprinted genes and loss of imprinting (LOI) in cancer, and they proved the epigenetic hypothesis of cancer through their work on Beckwith-Wiedemann syndrome. Most recently, they pioneered genome-scale epigenetics (epigenomics), with the first NIH funded Epigenome Center, pioneering methods including the first comprehensive genome-scale methylation discovering the major target for epigenetic variation in humans, CpG island shores. He led the first whole genome bisulfite sequencing analysis of human cancer, discovering large hypomethylated blocks that correspond to nuclear lamina-associated heterochromatin, as well as a mechanism for disruption of these blocks in epithelial-mesenchymal transition. He has also helped to create the field of epigenetic epidemiology, discovering epigenetic mediation of genetic variants in disease. He has made several important theoretical contributions as well, including the epigenetic progenitor hypothesis of cancer and the role of entropy in epigenetic development and disease. He is a Bloomberg Distinguished Professor in the Johns Hopkins University Schools of Medicine, Engineering and Public Health, where he is Director of the Center for Epigenetics. He is a recipient of an NIH Director’s Pioneer Award, is a member of the National Institute of Medicine, the American Academy of Arts and Science, the NIH Council of Councils, and he has received honorary doctorates from the University of Uppsala, the Karolinska Institute, and the University of Amsterdam. Feinberg Lab Website. Dr. Feinberg is highly rated in 1 condition, according to our data. His top areas of expertise are Autism Spectrum Disorder, Acute Myeloid Leukemia (AML), Leukemia, and Metabolic Syndrome.

Jaclyn Murry is a Medical Genetics provider in Baltimore, Maryland. Dr. Murry is highly rated in 1 condition, according to our data. Her top areas of expertise are Mosaicism, Turner Syndrome, and Intersex.

Yi Ning is a Medical Genetics provider in Baltimore, Maryland. Her top area of expertise is Classical Hodgkin Lymphoma.

Kristen Schratz is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Her top areas of expertise are Leukemia, Aplastic Anemia, and Immune Thrombocytopenic Purpura (ITP).

George Sack is a primary care provider, practicing in Medical Genetics in Baltimore, Maryland. His top area of expertise is Sarcoidosis.

Molly Sheridan is a Medical Genetics provider in Baltimore, Maryland. Her top areas of expertise are Immune Defect due to Absence of Thymus, DiGeorge Syndrome, and Albright's Hereditary Osteodystrophy.

Suzette Huguenin is a Medical Genetics provider in Baltimore, Maryland. Her top areas of expertise are Zellweger Syndrome and Adrenoleukodystrophy (ALD).

Yiping Huang is a Medical Genetics provider in Baltimore, Maryland.

Susan Panny is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland.

Michelle Mccrone is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland.