Dr. Natasha E. Shur

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 a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

Dina Zand is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Zand is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Agyria Pachygyria Polymicrogyria, Cerebellar Hypoplasia, Lissencephaly 1, and Miller-Dieker Syndrome.

Jessica Perniciaro is a Pediatrics specialist and an Emergency Medicine provider in Baltimore, Maryland. Dr. Perniciaro is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Asthma in Children, Cerebral Hypoxia, PEPCK 1 Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.