Elite in N-Acetylglutamate Synthase Deficiency
Elite in N-Acetylglutamate Synthase Deficiency
111 Michigan Ave Nw, 
Washington, DC 

Overview

Mendel Tuchman is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Tuchman is rated as an Elite provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are N-Acetylglutamate Synthase Deficiency, Urea Cycle Disorders (UCD), Carbamoyl Phosphate Synthetase 1 Deficiency, and Argininosuccinic Aciduria.

His clinical research consists of co-authoring 38 peer reviewed articles and participating in 3 clinical trials. MediFind looks at clinical research from the past 15 years. In particular, he has co-authored 7 articles in the study of N-Acetylglutamate Synthase Deficiency.

Specialties
Medical Genetics
Pediatrics
Licenses
Clinical Genetics in DC
Languages Spoken
English
Gender
Male

Insurance

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Locations

111 Michigan Ave Nw, Washington, DC 20010

Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Providers who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.


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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 N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

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Kimberly Chapman is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Chapman is rated as an Experienced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Ehlers-Danlos Syndrome (EDS), Brittle Cornea Syndrome, Methylmalonic Acidemia, and Mitochondrial Trifunctional Protein Deficiency.

Areas of Expertise

MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.

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