The goal of this training program is to recruit and educate physician-scientists who have the potential to become leaders in the field of Genetic Medicine. The program is designed to expose trainees to all facets of modern medical genetics extending from the laboratory to the patient setting. Hopkins provides leadership in the categorization and mapping of inherited traits, the study and management of patients with inborn errors of metabolism and neurogenetic disorders, the application of genomic and computational methods to the identification and understanding of multiple genes and their role in human disease, as well as the diagnosis, classification and treatment of disorders of connective tissue. The training experience emphasizes research in human genetics and prepares trainees for a career in academic medicine. The McKusick-Nathans Institute of Genetic Medicine oversees the clinical, educational and research activities in human genetics of the Johns Hopkins School of Medicine. Faculty offices and research laboratory facilities of the Institute are consolidated in the Broadway Research Building that is adjacent to the Hospital. The Clinical Program operates within Hospital space and educational activities occur in the Hospital, Research and Preclinical Teaching Building. Thus, Research, Education and Clinical Programs of the Institute are in close proximity facilitating transition from one activity to another for faculty and trainees. The program has an outstanding track record of educating physician-scientists who have made and continue to make substantial contributions to medical genetics. Physicians desiring eligibility for the American Board of Medical Genetics perform clinical training for 12 months followed by 6 months of research-oriented clinical exposure before entering 18 months of an intensive in-depth experience in genetic research. To maintain the strong emphasis on research training and to expand the number of physicians who will contribute to advancements in the field of genetic medicine, the Institute offers combined training programs in pediatrics and genetics (5 years), maternal fetal medicine and genetics(4 or 5 years), and internal medicine and genetics (5 years). Trainee stipends for the clinical portion of each training program are provided by the Hospital while this grant supports trainees when they are primarily devoted to research. Research is performed under the auspices of a carefully selected mentor, with additional mentoring and career guidance provided by the Program Director, the Co-Director and selected senior faculty members to facilitate transition into a productive independent research career. The program currently averages 10 trainees per year and 5 trainee stipends per year are requested in this application.
The Medical Genetics Training program at Johns Hopkins educates physicians and scientists in the application of genetic principles to decipher the mechanisms of rare and common inherited diseases in humans. Trainees in the program become skilled in translating genetic information from the bench to the bedside with the primary goal of improving health outcomes in patients with genetic disorders.
|Bishop, Juliet Chhay; Blakemore, Karin; Vricella, Luca et al. (2018) Prenatal ABO/RHD Genotyping: A New Paradigm to Allow for Fresh Whole Blood for Cardiopulmonary Bypass in the Immediate Newborn Period. Fetal Diagn Ther 44:156-159|
|Lu, Jacqueline G; Bishop, Juliet; Cheyette, Sarah et al. (2018) A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud 4:|
|Bishop, Juliet Chhay; Britton, Jacquelyn Francis; Murphy, Anne M et al. (2018) Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4. J Pediatr Genet 7:78-82|
|Muriello, Michael; Clemens, Julia L; Mu, Weiyi et al. (2018) Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes. Am J Med Genet A 176:1858-1864|
|Peroutka, Christina; Salas, Jacqueline; Britton, Jacquelyn et al. (2018) Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. JIMD Rep :|
|Roshan Lal, Tamanna; Sidransky, Ellen (2017) The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases 5:|
|Borger, Daniel K; McMahon, Benjamin; Roshan Lal, Tamanna et al. (2017) Induced pluripotent stem cell models of lysosomal storage disorders. Dis Model Mech 10:691-704|
|Zhao, Xixi; Li, Angela; Soni, Madhu et al. (2017) McArdle disease: a ""pediatric"" disorder presenting in an adult with acute kidney injury. CEN Case Rep 6:156-160|
|Ramesh, Anirudh; Diaz, Johanna; Nogee, Lawrence et al. (2017) Premature Identical Twin Neonates With Sleep Apnea. Clin Pediatr (Phila) 56:1075-1078|
|Johnston, Jennifer J; Lee, Chanjae; Wentzensen, Ingrid M et al. (2017) Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. Cold Spring Harb Mol Case Stud 3:|
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