Dr. Jaishri Blakeley is the Marjorie Bloomberg Tiven Professor of Neurofibromatosis in Neurology, Oncology, and Neurosurgery at Johns Hopkins School of Medicine, director of the Johns Hopkins Comprehensive Neurofibromatosis Center and director of the Neurofibromatosis Therapeutic Acceleration Program (NTAP). She is an active clinician-scientist specializing in the care of people with NF1, NF2, LZTR1, SMARC1 schwannomatoses, and primary brain tumors. Her research expertise in the development of clinical trials for nervous system tumors and specifically, early clinical-translational studies including tumor pharmacokinetic and pharmacodynamic investigations, imaging biomarkers for rare nervous system tumors, and incorporation of patient-focused, functional endpoints into efficacy studies. She has been the national or international leader of 7 clinical trials focused on therapies for glioblastoma, NF1 and NF2. In 2012 she cofounded the NTAP to dramatically shift the landscape of NF1 via necessary, efficient, and expert discovery, translational and clinical research. NTAP focuses on therapeutics, fosters collaboration, facilitates open and timely sharing of results, and streamlines the research process to accelerate therapies for plexiform and cutaneous neurofibromas. Through NTAP, Dr. Blakeley has supported and collaborated with more than 80 laboratories and research teams across the globe enabling meaningful therapeutic development for NF1-associated neoplasms and supporting the development of an exceptional community of clinician scientists focused on NF1 via the Francis S. Collins Scholars Program in Neurofibromatosis Clinical and Translational Research. Her research and programmatic efforts are all in the service of improving outcomes for the patients with NF1, NF2, schwannomatosis, and primary brain cancer for whom she is honored to provide care. Dr. Blakeley is rated as an Advanced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Neurofibromatosis, Schwannomatosis, Neurofibromatosis Type 2 (NF2), Neurofibromatosis Type 1 (NF1), and Laminectomy.

Dr. Comi graduated from SUNY Buffalo School of Medicine and received her training in pediatrics at the Children's Hospital of Buffalo and her child neurology training at Johns Hopkins Medicine. Her clinical specialization is in the treatment of the neurological aspects of Sturge-Weber syndrome and other disorders related to capillary malformation. Dr. Comi's clinical research interests focus on improving the early diagnosis and treatment of brain involvement in Sturge-Weber syndrome in order to prevent ischemic brain injury in affected infants and young children, and on studies to understand what causes Sturge-Weber syndrome. Her laboratory research work deals with the pathogenesis of Sturge-Weber syndrome, recently shown to be caused by a somatic mutation, and on developing new drug targets, screening assays, models and therapeutic strategies for Sturge-Weber syndrome. Her lab group also works on developing better neuroprotective and neuroregenerative responses to brain injury resulting from impaired blood flow to the brain. Dr. Comi is rated as an Advanced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Sturge-Weber Syndrome, Parkes Weber Syndrome, Stork Bite, Epilepsy in Children, and Endovascular Embolization.

Dr. Joy Wan is an Assistant Professor of Dermatology at the Johns Hopkins University School of Medicine. Her areas of clinical expertise include pediatric dermatology and atopic dermatitis. Dr. Wan received her undergraduate degree in biochemical sciences from Harvard University and her M.D. from the University of Pennsylvania. She completed dermatology residency training at the University of Pennsylvania and pediatric dermatology fellowship at the Children’s Hospital of Philadelphia. She also pursued postdoctoral research training in clinical epidemiology at the University of Pennsylvania. Dr. Wan joined the Johns Hopkins faculty in 2021. In addition to her clinical practice, Dr. Wan leads an active research program focused on epidemiologic and patient-oriented investigations of pediatric skin diseases including eczema. Dr. Wan is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Atopic Dermatitis, Infantile Digital Fibromatosis, PHACE Syndrome, and Psoriasis.

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 rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Polyhydramnios, Bilateral Renal Agenesis Dominant Type, Lung Agenesis, and Atresia of Small Intestine.

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 rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. His top areas of expertise are Epilepsy, Seizures, West Syndrome, Endovascular Embolization, and Deep Brain Stimulation.

Mari Groves is a Johns Hopkins pediatric neurosurgeon who cares for children with brain and spinal cord tumors (benign and cancerous), skeletal dysplasia, and spinal deformities such as neuromuscular and early scoliosis. She also sees patients diagnosed with Chiari malformations, spasticity and epilepsy. She specializes in treating patients with all types of spina bifida, including myelomeningocele. As part of the Johns Hopkins Center for Fetal Therapy, she is an expert in prenatal closure techniques such as minimally invasive fetoscopic repair of myelomeningocele (when the spina bifida defect is repaired before birth). Offering a transitional practice model of care, she follows patients diagnosed with spina bifida from birth to adulthood. Dr. Groves chose to pursue neurosurgery because it allows her to treat patients with complex conditions and help improve the quality of children’s lives. Her research interests focus on pediatric spinal disease and how surgical intervention can impact growth and neurological function during a child’s life. She is committed to building programs that support patients with congenital disorders as they age. Pediatric patients often age out of existing programs and have difficulty locating physicians and treating teams that understand their conditions. At Johns Hopkins, we have a unique ability to provide this type of comprehensive care. Dr. Groves earned her medical degree from the Vanderbilt University School of Medicine in 2007. She completed residency training in 2014 at The Johns Hopkins Hospital, where she remained for a neurosurgery fellowship, which she finished in 2015. She also completed a spinal deformity fellowship at Shriners Hospitals for Children in Philadelphia. Dr. Groves is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Spinal Tumor, Myelomeningocele, Tethered Cord Syndrome, Osteotomy, and Laminectomy.

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

Alan R. Cohen is the director of pediatric neurosurgery at Johns Hopkins Children’s Center in Baltimore, Maryland, and one of the top pediatric neurosurgeons in the country. His area of specialty is treating infants and children diagnosed with brain tumors. Dr. Cohen’s goal is to get his patients back to being a kid again. He has a patient-centered approach to caring for each of his patients, working closely with the child’s family at every stage of the decision-making process. Dr. Cohen sees patients in the neurosciences clinic located in the Levi Watkins, Jr., M.D., Outpatient Center. As the Carson-Spiro Professor of Pediatric Neurosurgery, Dr. Cohen is a leader in developing minimally invasive techniques to enhance the safety and efficacy of selected pediatric neurosurgical procedures. He serves as director of the Minimally Invasive Neurosurgery Laboratory at Johns Hopkins and directs the Minimally Invasive Neurosurgery Fellowship Program. His lab focuses on developing novel instruments and surgical approaches. He has authored more than 200 peer-reviewed journal articles and book chapters, and published two textbooks. He has given approximately 330 national and international presentations, and has been an invited visiting professor at 50 medical centers. He is past president of the Society of Neurological Surgeons, the American Society of Pediatric Neurosurgeons and the AANS/CNS Section on Pediatric Neurological Surgery. He is past vice president of the American Academy of Neurological Surgery, a past director of the American Board of Neurological Surgery and current director of the American Board of Pediatric Neurological Surgery. Patient Reviews Hear what patients have to say about Dr. Cohen’s care: • Healthgrades Patient Reviews • Vitals Patient Reviews. Dr. Cohen is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. His top areas of expertise are Arachnoid Cysts, Meningocele, Hydrocephalus, Endoscopy, and Cerebral Artery Bypass Surgery.

Dr. Doris Da May Lin is an Associate Professor in the Johns Hopkins Medicine Department of Radiology and Radiological Science. She specializes in neuroradiology. Dr. Lin received her B.A. in chemistry from the University of Pennsylvania, and then pursued a joint M.D./Ph.D. degree at the Yale University School of Medicine, with graduate training in the neurosciences. She completed a medical internship at the University of Pennsylvania Hospital and a diagnostic radiology residency at New York Presbyterian Hospital-Cornell. After a two-year neuroradiology fellowship, she joined the faculty at Johns Hopkins. Dr. Lin is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Parkes Weber Syndrome, Sturge-Weber Syndrome, Subdural Effusion, CACH Syndrome, and Endovascular Embolization.

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

Dr. Michael Polydefkis focuses on neuromuscular diseases, particularly peripheral nerve diseases. He has a special interest in diabetic and HIV-associated peripheral neuropathy. His expertise includes nerve conduction studies, electromyography and nerve, skin and muscle biopsy reading. Dr. Michael Polydefkis received his medical degree from The Johns Hopkins University School of Medicine. He then became a Howard Hughes Medical Institute research fellow before returning to Johns Hopkins to complete an internship and residency in internal medicine, residency in neurology and a fellowship in neuromuscular diseases. Dr. Polydefkis is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. His top areas of expertise are Transthyretin Amyloidosis, Familial Transthyretin Amyloidosis, Primary Amyloidosis, and Peripheral Neuropathy.

Sammy Droubi is a Radiologist in Baltimore, Maryland. Dr. Droubi is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. His top areas of expertise are Ectodermal Dysplasias, Clouston Syndrome, Aplasia Cutis Congenita, and Febrile Neutropenia.

After completing her bachelors of science degree in biochemistry from the City College of New York (CUNY), Dr. Smith-Hicks entered the Medical Scientist Training Program at Columbia University College of Physicians and Surgeons, where she obtained her M.D., Ph.D. in 2000. She trained in Pediatrics at the Albert Einstein College of Medicine and completed her Neurology and Pediatric Neurology training at the Johns Hopkins University School of Medicine in 2005. Dr. Smith-Hicks trained as a post-doctoral fellow in the Department of Neuroscience at Johns Hopkins University School of Medicine under the guidance of Dr. Paul Worley. She joined the faculty at Kennedy Krieger Institute in 2010 where she now sees patients with Autism Spectrum Disorder and Rett Syndrome, while conducting basic science research exploring disorders of learning and memory. Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Rett Syndrome, Ruvalcaba Syndrome, Autism Spectrum Disorder, and Early Infantile Epileptic Encephalopathy.

Meg Gerstenblith is a clinical associate in dermatology at the Johns Hopkins University School of Medicine, with a focus on general dermatology and melanoma. Dr. Gerstenblith has co-written over 35 peer-reviewed articles and more than 40 abstracts on dermatology and cutaneous oncology. She received her medical degree from the Johns Hopkins University School of Medicine, where she also completed her dermatology residency. Dr. Gerstenblith is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Melanoma, Focal Dermal Hypoplasia, Basal Cell Skin Cancer, and Pigmented Purpuric Dermatosis.

Caline Azzi is a Radiologist and a Neuroradiologist in Middle River, Maryland. Dr. Azzi is rated as an Experienced provider by MediFind in the treatment of Clouston Syndrome. Her top areas of expertise are Ectodermal Dysplasias, Clouston Syndrome, Aplasia Cutis Congenita, and Thrombectomy.