Michael X. Repka, M.D., M.B.A., is the David L. Guyton, M.D., and Feduniak Family Professor of Ophthalmology at the Wilmer Eye Institute. He specializes in pediatric ophthalmology, strabismus, retinopathy of prematurity and pediatric neuro-ophthalmology. His clinical practice includes an interest in the management of strabismus and amblyopia. In these areas, he has a special interest in using alternatives to patching for the management of amblyopia and using strabismus surgery, botulinum toxin and adjustable sutures to treat strabismus. He also performs cataract surgery and intraocular lens implantation on children with cataracts and has a special interest in pediatric neuro-ophthalmology involving normal and abnormal visual development and the effect of injury and tumor on the visual system of the child. Dr. Repka received his M.D. degree from Thomas Jefferson University and completed his ophthalmology residency at Wills Eye Hospital. He completed fellowships in neuro-ophthalmology and pediatric ophthalmology at the Wilmer Eye Institute and joined the faculty in 1985. In addition to his clinical responsibilities, Dr. Repka is the vice chair for clinical practice at Wilmer. Dr. Repka is the past chairman of the Pediatric Eye Disease Investigator Group and past president of the Maryland Society of Eye Physicians and Surgeons. He is medical director of Government Affairs of the American Academy of Ophthalmology. Dr. Repka is highly rated in 13 conditions, according to our data. His top areas of expertise are Strabismus, Brown Syndrome, Amblyopia, Cataract Removal, and Vitrectomy.

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 highly rated in 10 conditions, according to our data. His top areas of expertise are Cloacal Exstrophy, Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Osteotomy, and Bladder Reconstruction.

Dr. Christine Pratilas is a pediatric medical oncologist at the Sidney Kimmel Comprehensive Cancer Center and Associate Professor of Oncology, Pediatrics & Cellular and Molecular Medicine at the Johns Hopkins University School of Medicine. She joined the Hopkins pediatric sarcoma team in 2014. Dr. Pratilas received her undergraduate degree in Biology from Drew University in New Jersey and her medical degree from UMDNJ - Robert Wood Johnson Medical School (now Rutgers University), where she also completed her internship and residency from 1999 to 2002. From 2002 to 2005 she was a fellow in hematology and oncology in the Memorial Sloan Kettering Cancer Center (MSKCC) Department of Pediatrics, and in the Department of Pediatric Hematology and Oncology at New York Weill Cornell Medical Center. She was a postdoctoral research fellow in Dr. Neal Rosen’s Molecular Oncogenesis Laboratory at MSKCC. From 2006 to 2014 she was attending in Pediatric Oncology at MSKCC, specializing in developmental therapeutics & sarcoma. She has been the director of the pediatric sarcoma program at Hopkins since 2018. Dr. Pratilas focuses her research on cancer-associated pathways and signal transduction, which involves figuring out how a cell’s internal molecular pathways work, and how those pathways can be molecularly controlled. This knowledge is the basis for developing promising new molecularly targeted cancer therapies, which is the focus of Dr. Pratilas’s research. Among her important scientific contributions is advancing our understanding of how certain proteins that can be mutated in cancer, known as RAF kinases (specifically BRAF), affect a cancer cell’s behavior. The research in Dr. Pratilas' laboratory is focused on RAS signal transduction pathways, concentrating on pediatric sarcomas such as rhabdomyosarcoma and malignant peripheral nerve sheath tumors, in order to develop novel therapeutics for children with these tumors. Dr. Pratilas is highly rated in 9 conditions, according to our data. Her top areas of expertise are Malignant Peripheral Nerve Sheath Tumor, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Adult Soft Tissue Sarcoma, and Osteotomy.

Dr. Wikrom Karnsakul is an associate professor of pediatrics at the Johns Hopkins University School of Medicine. His clinical interests are in the care of pediatric liver diseases, and general gastrointestinal diseases. Dr. Karnsakul received his medical degree in 1992 from Faculty of Medicine, Siriraj Medical Center, Mahidol University School of Medicine in Bangkok, Thailand. He completed his residency in pediatrics at Advocate Hope Children's Hospital in 1998 and did a fellowship in pediatric gastroenterology, hepatology and nutrition at Texas Children's Hospital, Baylor College of Medicine in Houston, Texas. He completed his postdoctoral research training at USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine. He joined the faculty at Johns Hopkins in 2008. His research interests center on the understanding and treatment of chronic liver disease, ascites, cholestasis, viral hepatitis especially hepatitis C and hepatitis E, and Cystic Fibrosis Related Liver Disease. Dr. Karnsakul is also involved in NIH-funded multicenter research studies including the Cholestatic Liver Disease Consortium and Cystic Fibrosis Related Liver Disease Project. Dr. Karnsakul is currently a Fellow of the American Association for the Study of Liver Diseases (FAASLD). Dr. Karnsakul is highly rated in 8 conditions, according to our data. His top areas of expertise are Alagille Syndrome, Cholestasis, Hepatitis E, Liver Transplant, and Endoscopy.

William Moss is a Pediatrics provider in Baltimore, Maryland. Dr. Moss is highly rated in 4 conditions, according to our data. His top areas of expertise are Measles, Rubella, HIV/AIDS, and Childhood Iron Deficiency Anemia.

Gregg Semenza is a Pediatrics provider in Baltimore, Maryland. Dr. Semenza is highly rated in 2 conditions, according to our data. His top areas of expertise are Cerebral Hypoxia, Pulmonary Hypertension, Hypertension, and Anemia.

Dr. Lauren Melissa Jansson is an associate professor of pediatrics at the Johns Hopkins University School of Medicine. Her areas of clinical expertise include drug abuse research, drug-exposed infants and children, and pediatrics. Dr. Jansson earned her M.D. from the State University of New York at Downstate Medical Center. She completed her residency at the Children’s Hospital at Albany Medical Center and performed a fellowship in developmental pediatrics at the Albert Einstein College of Medicine. Her research interests include fetal neurobehavioral development in drug-exposed pregnancies, lactation in opioid-dependent women on medication assisted treatment, and neonatal abstinence syndrome resulting from in utero opiate and other substance exposures. Dr. Jansson is a member of several professional organizations, including the College on Problems of Drug Dependence, the Academic Pediatric Association, and the Society for Pediatric Research. Dr. Jansson is highly rated in 1 condition, according to our data. Her top area of expertise is Neonatal Abstinence Syndrome.

Dr. Perrin is the Bloomberg Distinguished Professor of Primary Care in the Department of Pediatrics and the Schools of Medicine and Nursing. She has a joint appointment in the Bloomberg School of Public Health. She is a Robert Wood Johnson Clinical Scholars Fellowship Program-trained clinician investigator whose area of research expertise is patient-oriented preventive care, health services research, health disparities, and the prevention and treatment of pediatric obesity. She has also developed, disseminated, and studied many tools to help pediatricians in practice prevent and treat obesity including the color-coded BMI charts that many use in outpatient practice. She has been the lead on numerous grants (including a multi-site randomized controlled trial NIH R01 and its renewal) on obesity and children’s health. She was previously faculty at UNC (where she won the Hettleman award, the highest award for university scholarship) and Duke. She has held previous roles as Associate Vice Chancellor for Research for the University of North Carolina at Chapel Hill and Division Chief of Primary Care Pediatrics, founding Director of the Duke Center for Childhood Obesity Research, and a fellowship director of the National Clinicians Scholars Program at Duke University. She previously served as the national chair for the Academic Pediatrics Association Research Committee. Dr. Perrin is highly rated in 1 condition, according to our data. Her top areas of expertise are Obesity in Children, Premature Infant, Autism Spectrum Disorder, and Hypertension.

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 27 conditions, according to our data. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He received additional training in developmental neuropathology at the Universite Catholique de Louvain in Belgium and clinical genetics at the Harvard Program. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy. He has been actively involved in newborn screening for ALD and in developing clinical follow-up programs. He has extensive experience in clinical management of neurogenetic issues including peroxisomal and lysosomal disorders. He presently serves as the Director of the Lysosomal Storage Disease program in the department of Genetic Medicine. Dr. Raymond is highly rated in 24 conditions, according to our data. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Zellweger Syndrome, and Leukodystrophy.

Carl E. Stafstrom is a pediatric neurologist, caring for children with epilepsy. Dr. Stafstrom received his medical degree from the University of Washington School of Medicine in Seattle, with residencies at the University of Washington Medical Center and Tufts New England Medical Center, as well as fellowships at Harvard for neurology research and Boston Children’s Hospital in clinical neurophysiology, electroencephalography, and epilepsy. Dr. Stafstrom previously served as Professor of Neurology and Pediatrics at the University of Wisconsin-Madison School of Medicine and Public Health and Chief of Pediatric Neurology at American Family Children’s Hospital at UW Madison. Dr. Stafstrom is highly rated in 15 conditions, according to our data. His top areas of expertise are Epilepsy, Seizures, West Syndrome, Endovascular Embolization, and Deep Brain Stimulation.

Catherine Chu is the director of the Division of Pediatric Neurology and the John M. Freeman Pediatric Epilepsy Center in the Johns Hopkins Department of Neurology, as well as the vice president of child neurology at the Kennedy Krieger Institute. As a child neurologist, epileptologist and clinical neurophysiologist, Dr. Chu cares for children diagnosed with epilepsy and disorders of the nervous system (neurophysiology). She specializes in electroencephalogram (also known as EEG) analysis, seizure localization, surgical planning and neuromodulation for adult and pediatric patients with difficult to control epilepsy. She is nationally and internationally recognized for her work identifying causes of and treatment options for cognitive dysfunction and seizures in epilepsy and neurodevelopmental disorders. Dr. Chu’s team specializes in identifying and developing tools to detect and understand brain rhythms that support complex cognitive functions throughout development, including how these rhythms are disrupted by seizures and neurodevelopmental disorders. Dr. Chu earned her medical degree and a master’s degree in social anthropology from Harvard University. She completed an internship in pediatrics at Massachusetts General Hospital, and then a residency in neurology and child neurology at Massachusetts General and Brigham and Women’s Hospital. After completing two fellowships at Massachusetts General, one in epilepsy and another in clinical neurophysiology, Dr. Chu earned a master’s degree in medical science, focused on clinical investigation, from Harvard Medical School. Dr. Chu is highly rated in 11 conditions, according to our data. Her top areas of expertise are Benign Rolandic Epilepsy, Epilepsy in Children, Seizures, and Epilepsy.

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 highly rated in 11 conditions, according to our data. Her top areas of expertise are Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Cloacal Exstrophy, Bladder Reconstruction, and Osteotomy.

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 highly rated in 6 conditions, according to our data. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.

Corinne Keet is a Pediatrics provider in Baltimore, Maryland. Dr. Keet is highly rated in 4 conditions, according to our data. Her top areas of expertise are Food Allergy, Proctitis, Esophagitis, and Asthma in Children.

Dr. Habela completed a Medical Scientist Training Program at the University of Alabama, Birmingham. She received her PhD in Neurobiology in 2008 and her MD in 2010. After medical school, she specialized in child neurology, and completed 2 years of pediatrics residency and 3 years of child neurology residency at the Johns Hopkins Hospital in 2015. She then completed another 2 years of training specifically focused on the diagnosis, characterization and medical and surgical management of patients with epilepsy during an Epilepsy Fellowship at Johns Hopkins. Dr. Habela’s clinic specializes in pediatric neurology and epilepsy. Her clinical focus in on the care of patients with severe epilepsy with or without other neurodevelopmental disorders that have not been easily controlled with medications. She is also focused on the genetic causes of epilepsy and other neurodevelopmental disabilities with the hope that increasing our understanding of the genetic causes of epilepsy and neurodevelopmental disabilities will improve treatment. Dr. Habela’s basic science research is focused on the genetic mechanisms regulating appropriate proliferation, migration and integration of neurons and glial cells in both the prenatal and postnatal developing brain and how aberrations in these processes result in neurodevelopmental disabilities. Her hypothesis is that deregulation of pre and postnatal neurogenesis and synaptogenesis contributes to the behavioral phenotypes observed in many forms of intellectual disability, epilepsy and autism. Her research applies what we know from human genetic studies to basic science studies examining how specific genetic changes alter neurogenesis, synaptogenesis and overall excitation / inhibition balance in laboratory model systems. Her goal is to provide a better understanding of the molecular mechanisms of these processes and, in turn, possibly identify specific targets for disease modifying treatments for epilepsy. Contact for Research Inquiries 600 N. Wolfe Street Meyer 2-147 Baltimore, MD 21287 Phone: (410) 955-9100. Dr. Habela is highly rated in 4 conditions, according to our data. Her top areas of expertise are 15q11.2 Microdeletion, Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Epilepsy, and Endovascular Embolization.

Ambroise Wonkam is a Pediatrics specialist and a Medical Genetics provider in Baltimore, Maryland. Dr. Wonkam is highly rated in 4 conditions, according to our data. His top areas of expertise are Anemia, Fragile X Syndrome, Pyle Disease, and Micrognathia.

Dr. Stacy Suskauer is a professor of Physical Medicine and Rehabilitation and Pediatrics at the Johns Hopkins University School of Medicine. She serves as the director of the Division of Pediatric Rehabilitation in the Department of Physical Medicine and Rehabilitation. Dr. Suskauer attended Duke University in Durham, North Carolina for her undergraduate and medical education. She completed a combined residency program in pediatrics and physical medicine and rehabilitation at Cincinnati Children's Hospital Medical Center and the University of Cincinnati. She came to Kennedy Krieger Institute and Johns Hopkins for a pediatric rehabilitation research fellowship and subsequently joined the faculty of these institutions in 2007. Dr. Suskauer is also the Vice President for Rehabilitation at Kennedy Krieger Institute where she also serves as co-director of the Center for Brain Injury Recovery and the Brain Injury Clinical Research Center. Her research interests include understanding and optimizing outcomes after childhood brain injury and evaluating functional outcomes in individuals with Sturge-Weber Syndrome. As Division Director for Pediatric Rehabilitation, she brings together providers and programs across the four sites of the Johns Hopkins Pediatric Rehabilitation Network: Johns Hopkins Children's Center, Johns Hopkins All Children's Hospital, Mount Washington Pediatric Hospital, and Kennedy Krieger Institute. Videos Dr. Stacy SuskauerPediatric Rehabilitation Recent News Articles and Media Coverage CDC Updates Child Concussion GuidelinesCBS Baltimore (September 2018) On a Search for Markers to Assess the Subtle Signs of Brain InjuryRestore (February 2017) Stimulating Brain Can Speed up Concussion RecoveryWBALTV (February 2017) 4 Myths About Kids and ConcussionsThe Huffington Post (March 2016). Dr. Suskauer is highly rated in 2 conditions, according to our data. Her top areas of expertise are Traumatic Brain Injury, Concussion, Hemiplegia, and Subdural Hematoma.

Medical School: Madras Medical College, University of Madras, Chennai ,INDIA Residency: 1. Pediatrics- Cook County Hospital, Chicago IL. 2.Neurodevelopmental Disabilities- Johns Hopkins University, Baltimore,MD. Current Position: Instructor, Department of Neurology , Johns Hopkins Hospital. Assistant Medical Director, Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21211. Dr. Menon is highly rated in 2 conditions, according to our data. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, Early Infantile Epileptic Encephalopathy, and Microcephaly Deafness Syndrome.

Lawrence Nogee is a Pediatrics provider in Baltimore, Maryland. Dr. Nogee is highly rated in 2 conditions, according to our data. His top areas of expertise are Pulmonary Alveolar Proteinosis, Infant Respiratory Distress Syndrome, High Blood Pressure in Infants, and Pulmonary Hypertension.

Ronald Cohn is a Pediatrics provider in Baltimore, Maryland. Dr. Cohn is highly rated in 2 conditions, according to our data. His top areas of expertise are Hypotonia, Muscle Atrophy, Infantile Neutropenia, and Micrognathia.

Dr. Paul H. Lipkin is an associate professor of pediatrics at the Johns Hopkins University School of Medicine. Dr. Lipkin’s clinical interests include developmental concerns such as autism and attention, learning, and language disorders. He treats infants and children at the Kennedy Krieger Institute’s Center for Development and Learning and is on the faculty of the Institute’s Maternal and Child Health Leadership Education in Neurodevelopmental and Other Related Disabilities (LEND) Program. As director of medical informatics at the Kennedy Krieger Institute, Dr. Lipkin oversees the Interactive Autism Network (IAN) and related clinical and research informatics services, connecting those affected by autism and other developmental disorders with researchers throughout the world. Dr. Lipkin received his undergraduate degree from Rutgers University and attended medical school at the University of Medicine and Dentistry of New Jersey - New Jersey Medical School. He received his general pediatric training, focusing on primary care, at Sinai Hospital of Baltimore, followed by subspecialty training in developmental pediatrics at Johns Hopkins University and the Kennedy Krieger Institute. Dr. Lipkin joined the faculty of the Kennedy Krieger Institute and Johns Hopkins University in 1995. He has provided national leadership on autism and other developmental disorders through his work with the American Academy of Pediatrics (AAP), which recognized him with the 2011 Arnold J. Capute Award to honor his contributions to the field of developmental disabilities. He was also awarded a prestigious Robert Wood Johnson Foundation Health Policy Fellowship, which he completed in the U.S. Department of Health and Human Services’ Office of the Secretary in 2011. Dr. Lipkin is a former chair of the Council on Children with Disabilities and currently leads key AAP initiatives on early developmental surveillance and screening. Dr. Lipkin is highly rated in 1 condition, according to our data. His top areas of expertise are Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder (ADHD).

Dr. Garry R. Cutting is a Professor of Pediatrics and Medicine in the McKusick-Nathans Institute of Genetic Medicine of the Johns Hopkins University School of Medicine. He is the Aetna/U.S. Healthcare Professor of Medical Genetics at Johns Hopkins. Dr. Cutting received his undergraduate degree in biology and medical degree from the University of Connecticut. He completed residency training in pediatrics and a fellowship in medical genetics at the Johns Hopkins University School of Medicine. Dr. Cutting is the Medical Director of the DNA Diagnostic Laboratory of Johns Hopkins Genomics. He directed the Medical Genetics Residency Program at Hopkins from 1995 to 2004. Dr. Cutting is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award from the Cystic Fibrosis Foundation and a MERIT award from the National Institutes of Health. He has published more than 160 peer-reviewed articles. Dr. Cutting was elected to the Society of Pediatric Research (1992), the American Society of Clinical Investigation (1995) and the Association of American Physicians (2017). Dr. Cutting’s primary interests lie in the interpretation of DNA variation and their effect upon human phenotypes. Dr. Cutting’s lab focuses on the effect of common and rare variants in the CFTR gene that cause the single gene disorder cystic fibrosis (CF). His lab operates the CFTR2 database, a resource composed of clinical and genetic data on almost 90,000 individuals with CF world-wide. His laboratory also studies the effect of clinically approved and novel modulators upon CFTR protein bearing disease-causing variants. Dr. Cutting’s laboratory is also leader in the identification and characterization of genetic modifiers of cystic fibrosis. His group is currently collaborating with teams at the University of North Carolina and the University of Washington, Seattle to identify common and rare modifier variants of disease severity by whole genome sequencing of 5200 individuals with CF. Dr. Cutting participates in the clinical translation of variant interpretation as the Medical Director of the DNA Diagnostic Laboratory at Johns Hopkins. Finally, as Editor of the journal Human Mutation Dr. Cutting oversees the review and publication of manuscripts reporting the mechanism, distribution and phenotype consequences of variation in our genomes. Dr. Cutting is highly rated in 1 condition, according to our data. His top areas of expertise are Exocrine Pancreatic Insufficiency, Sjogren-Larsson Syndrome, Coffin-Siris Syndrome, and Meier-Gorlin Syndrome.

Dr. Jaqueline Weissman is an assistant professor in the Department of Neurology, Kennedy Krieger Institute, Department of Pediatrics Johns Hopkins Hospital and Institute of Genomic Medicine at Johns Hopkins Hospital. She is also director of the Center for Tuberous Sclerosis and Related Disorder at Kennedy Krieger Institute. She focuses on genetic and epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits. Currently most of her research is centered around Kabuki Syndrome. Dr. Weissman received her B.A. with. Dr. Harris is highly rated in 88 conditions, according to our data. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Coffin-Lowry Syndrome, Galactosialidosis, and Odontotrichomelic Syndrome.

Fernando Polack is a Pediatrics provider in Baltimore, Maryland. Dr. Polack is highly rated in 5 conditions, according to our data. His top areas of expertise are Respiratory Syncytial Virus (RSV) Infection, Bronchopulmonary Dysplasia, Infantile Pneumothorax, and Cerebral Hypoxia.