EXCEED THE SPACEPROVIDED. The goal of this training program isto recruit and educate physician-scientists who have the potential to become leaders in the field of Genetic Medicine. The program is designed to provide fellows with experience in all facets of modern medical genetics extending from the lab bench to the patient setting. The training experience emphasizes research in human genetics and prepares trainees for a career in academic medicine. Johns Hopkins has a long tradition of training post-doctoral fellows in human genetics. The origins of the postdoctoral training program can be traced to 1957 when Dr. Victor McKusick became the Director of the Moore Clinic. Under the direction of Dr. McKusick, this clinic became a 'home base' for medical genetics at Hopkins, and remained as such until 1989. Concurrently, a genetics training program in pediatrics was initiated under the direction of Dr. Barton Childs. The two programs werecombined in 1975. Funding for research fellows was provided by this training grant, which is currently in its twenty-fourth year. Expertise in medical and pediatric genetics illustrates a distinctive strength of the Hopkins program. Hopkins provides leadership in a number of areas of human genetics, particularly in the categorization and mapping of inherited traits, the study and management of patients with inborn errors of metabolism, the application of molecular and cellular genetic techniques to the understanding of disease, andthe diagnosis, classification andtreatment of disorders of connective tissue. In recognition of the growing importance of genetics in medicine, the Johns Hopkins University has formed and endowed the McKusick-Nathans Institute of Genetic Medicine. The Institute will coordinate clinical, educational and research activities in human genetics at the School of Medicine. This training program will benefit substantially from the environment and resources that will be provided by the Institute. The training program has an outstanding track record of educating physician-scientists who have made substantial contributions to human and medical genetics. To maintain the strong emphasis on research training and to accommodate recent changes in clinical training of geneticists, the duration and content of the program has been modified. Physicians desiring eligibility for the American Board of Medical Genetics Clinical Certification perform clinical duties for one year as a Genetics Resident. Stipend support during the year of residency is provided by the Institute of Genetic Medicine. Trainees then enter a two or three year program supported by this grant that provides an intensive in-depth experience in genetic research. Fellows not desiring Clinical Certification may enter the research program directly. Research is performed under the auspices of a carefully selected mentor, with additional mentoring and career guidance provided by the Program Director and Co-Director to facilitate transfer to a productive independent research career. PERFORMANCE SITE ========================================Section End===========================================

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Institutional National Research Service Award (T32)
Project #
5T32GM007471-29
Application #
6916479
Study Section
Special Emphasis Panel (ZGM1-BRT-2 (01))
Program Officer
Rhoades, Marcus M
Project Start
1977-07-01
Project End
2006-06-30
Budget Start
2005-07-01
Budget End
2006-06-30
Support Year
29
Fiscal Year
2005
Total Cost
$58,813
Indirect Cost
Name
Johns Hopkins University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
001910777
City
Baltimore
State
MD
Country
United States
Zip Code
21218
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 :
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
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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