Scott Bartlett is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Bartlett is rated as an Elite provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Craniosynostosis, Pfeiffer Syndrome, Apert Syndrome, Osteotomy, and Bone Graft. Dr. Bartlett is currently accepting new patients.

Jesse Taylor is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Taylor is rated as an Elite provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Craniosynostosis, Crouzon Syndrome, Acrofacial Dysostosis Rodriguez Type, Osteotomy, and Glossectomy.

Howard Saal is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Saal is rated as an Elite provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Achondroplasia, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Acrofacial Dysostosis Catania Type.

Sandrine Marlin practices in Paris, France. Ms. Marlin is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. Her top areas of expertise are Hearing Loss, Acrofrontofacionasal Dysostosis Syndrome, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Osteotomy.

Stanislas Lyonnet practices in Paris, France. Lyonnet is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. Their top areas of expertise are Micrognathia, Kabuki Syndrome, Hirschsprung Disease, and Treacher Collins Syndrome.

Cornelia Caron practices in Rotterdam, Netherlands. Ms. Caron is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. Her top areas of expertise are Goldenhar Disease, Acrofrontofacionasal Dysostosis Syndrome, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, and Osteotomy.

Joseph Mccarthy is a Plastic Surgeon in New York, New York. Dr. Mccarthy is rated as an Elite provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Crouzon Syndrome, Acrofrontofacionasal Dysostosis Syndrome, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Osteotomy.

Amelia Drake is an Otolaryngologist in Chapel Hill, North Carolina. Dr. Drake is rated as an Elite provider by MediFind in the treatment of Treacher Collins Syndrome. Her top areas of expertise are Acrofacial Dysostosis Rodriguez Type, Acrofrontofacionasal Dysostosis Syndrome, Treacher Collins Syndrome, Crouzon Syndrome, and Endoscopy. Dr. Drake is currently accepting new patients.

Anand Kumar is a Plastic Surgeon and an Infectious Disease provider in Savannah, Georgia. Dr. Kumar is rated as an Advanced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Sepsis, H1N1 Influenza, Gallbladder Disease, Endoscopy, and Osteotomy. Dr. Kumar is currently accepting new patients.

John Persing is a Plastic Surgeon and a Neurosurgery provider in New Haven, Connecticut. Dr. Persing is rated as an Advanced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Metopic Ridge, Craniosynostosis, Plagiocephaly, Crouzon Syndrome, and Craniectomy.

Thomas Gampper MD FACS is a Plastic Surgeon in Charlottesville, Virginia. Dr. Gampper MD FACS is rated as an Experienced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Congenital Generalized Lipodystrophy, Familial Partial Lipodystrophy, Treacher Collins Syndrome, and Acrofacial Dysostosis Rodriguez Type. Dr. Gampper MD FACS is currently accepting new patients.

Derek Steinbacher is a Plastic Surgeon and an Oral and Maxillofacial Surgeon in Guilford, Connecticut. Dr. Steinbacher is rated as a Distinguished provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Metopic Ridge, Craniosynostosis, Crouzon Syndrome, Osteotomy, and Bone Graft. Dr. Steinbacher is currently accepting new patients.

John Girotto is a General Surgeon and a Plastic Surgeon in Grand Rapids, Michigan. Dr. Girotto has been practicing medicine for over 32 years and is rated as an Advanced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Autosomal Cleft Palate, Goldenhar Disease, Cleft Lip and Palate, Osteotomy, and Bone Graft. Dr. Girotto is currently accepting new patients.

Parit Patel is a Plastic Surgeon in Chicago, Illinois. Dr. Patel is rated as an Advanced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Goldenhar Disease, Crouzon Syndrome, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, and Osteotomy.

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

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 rated as an Advanced provider by MediFind in the treatment of Treacher Collins Syndrome. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

Dr. Robin Yang is a pediatric craniofacial surgeon in the Johns Hopkins Department of Plastic and Reconstructive Surgery and the Director of Pediatric Plastic Surgery. He is also the Division Chief of Oral and Maxillofacial Surgery and Dentistry in the Department of Otolaryngology-Head and Neck Surgery. His areas of expertise include orthognathic surgery, pediatric oral and maxillofacial pathology, and congenital craniofacial deformities. Dr. Yang received an undergraduate degree in psychology from Emory University. He earned his doctorate in dental surgery from the Columbia University College of Dental Medicine and his medical degree from the University of Maryland School of Medicine. Dr. Yang completed residencies in oral and maxillofacial surgery at the University of Maryland Medical Center/R Adams Cowley Shock Trauma Center and in plastic and reconstructive surgery at The Johns Hopkins Hospital. He performed a pediatric craniofacial/plastic surgery fellowship at the Children’s Hospital of Philadelphia and joined the Johns Hopkins faculty in his current position in 2019. Dr. Yang has received many awards and honors, and he is board eligible with the American Board of Oral and Maxillofacial Surgery and the American Board of Plastic Surgery. Dr. Yang is rated as an Advanced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Craniosynostosis, Metopic Ridge, Plagiocephaly, Osteotomy, and Bone Graft.

Thomas Willson is a Plastic Surgeon and a General Surgeon in Columbia, Missouri. Dr. Willson has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Micrognathia, Acrodysostosis, Acrofacial Dysostosis Nager Type, Acrofacial Dysostosis Weyers Type, and Osteotomy. Dr. Willson is currently accepting new patients.

Christopher Runyan is a Plastic Surgeon in Winston Salem, North Carolina. Dr. Runyan has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Micrognathia, Pierre Robin Sequence, Metopic Ridge, Osteotomy, and Craniectomy. Dr. Runyan is currently accepting new patients.

Ghali Ghali is an Oral and Maxillofacial Surgeon and a Plastic Surgeon in Shreveport, Louisiana. Dr. Ghali is rated as an Experienced provider by MediFind in the treatment of Treacher Collins Syndrome. His top areas of expertise are Osteochondroma, Mouth Sores, Mouth Ulcers, Tongue Cancer, and Gastrostomy. Dr. Ghali is currently accepting new patients.