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

Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.

Michael Bober is a Medical Genetics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is currently accepting new patients.

Michael Mannstadt is an Endocrinologist in Boston, Massachusetts. Dr. Mannstadt is rated as a Distinguished provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Hypoparathyroidism, Mccune-Albright Syndrome, Autosomal Dominant Hypocalcemia, Hormone Replacement Therapy (HRT), and Thyroidectomy.

Lisa Kratz is a Medical Genetics provider in Baltimore, Maryland. Dr. Kratz is rated as a Distinguished provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Greenberg Dysplasia, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

Naim Maalouf is an Endocrinologist in Dallas, Texas. Dr. Maalouf is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Milk-Alkali Syndrome, Hypercalcemia, Hyperparathyroidism, Ureteroscopy, and Parathyroidectomy. Dr. Maalouf is currently accepting new patients.

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

Leila Khan is an Endocrinologist in Cleveland, Ohio. Dr. Khan has been practicing medicine for over 27 years and is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Milk-Alkali Syndrome, Hypercalcemia, Hyperthyroidism, Hyperparathyroidism, and Parathyroidectomy.

Pryia Dayamani is an Endocrinologist in Atlanta, Georgia. Dr. Dayamani is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Follicular Thyroid Cancer, Thyroid Cancer, Anaplastic Thyroid Cancer, and Medullary Thyroid Carcinoma.

Henry Bone is an Endocrinologist in Detroit, Michigan. Dr. Bone has been practicing medicine for over 54 years and is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Paget's Disease of Bone, and Hyperparathyroidism. Dr. Bone is currently accepting new patients.

Mona Al Mukaddam is an Endocrinologist in Philadelphia, Pennsylvania. Dr. Al Mukaddam is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Juvenile Primary Osteoporosis, Hypothyroidism, and Fasciotomy.

Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is rated as an Experienced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish is currently accepting new patients.

Janice Gilden is an Endocrinologist in Chicago, Illinois. Dr. Gilden is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Rhizomelic Syndrome, Mccune-Albright Syndrome, Hypothyroidism, and Pituitary Tumor.

Kristen Gilbert is an Endocrinologist in Seymour, Indiana. Dr. Gilbert is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Triple A Syndrome, Gigantism, Sotos Syndrome, and Acromegaly.

Kelly Wentworth is an Endocrinologist in San Francisco, California. Dr. Wentworth is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Fibrous Dysplasia, Mccune-Albright Syndrome, Osteitis Fibrosa, and Rhizomelic Syndrome.

Neena Champaigne is a Medical Genetics specialist and a Pediatrics provider in Charleston, South Carolina. Dr. Champaigne is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Rhizomelic Syndrome, Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, and Classic Galactosemia.

Edward Hsiao is an Endocrinologist in San Francisco, California. Dr. Hsiao is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Fibrous Dysplasia, Osteitis Fibrosa, Mccune-Albright Syndrome, Rhizomelic Syndrome, and Hip Replacement.

Deborah Sellmeyer is an Endocrinologist in Stanford, California. Dr. Sellmeyer is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Osteoporosis, Hypercalcemia, Milk-Alkali Syndrome, Postmenopausal Osteoporosis, and Gastric Bypass.

Li Song is an Endocrinologist in Dallas, Texas. Dr. Song is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Osteopenia, Melorheostosis with Osteopoikilosis, and Parathyroidectomy.

Subarna Dhital is an Endocrinologist in Madison, Wisconsin. Dr. Dhital is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Familial Isolated Hyperparathyroidism, Parathyroid Hyperplasia, Follicular Thyroid Cancer, and Thyroid Cancer.