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Department: MEGNT-Molecular and Human Genetics
Course: 546-Medical Genetics Laboratory Experience
Track:

Course Coordinator: Dr. Ankita Patel
Course Faculty: Dr. Lorraine Potocki
Elective Location:
Periods Elective offered: Qtr: 4
Min. Number of Students:Max: 8
Course Level: Non-Clinical Elective-Research Only, does not count toward graduation requirement.
Credit: 4
Pre-requisites: Medicine and Pediatrics
Visiting Student Elective: No
Open to International Students: No
Grading:
Faculty Approval: Yes

Time Commitment Percentage of time expected
Regular Hours (Mon-Fri): 8a - 5p Inpatient Ward:
Night Call: Inpatient consultations:
Number on-call nights: Outpatient clinics:
Weekends: Surgery:
    Laboratory 90
  Didactic:
  Other: 10
Statement of Goals:
The field of clinical genetics is increasingly being recognized as an important component of medical care. Thus, it is anticipated that genetic testing will become an integral part of diagnosis, prognosis and treatment of disease and in determining the appropriate drugs for individual patients. This rotation will provide a diverse view of genetic testing in a CLIA certified diagnostic genetic laboratory (Medical Genetics Laboratory (MGL), Cancer Genetics Laboratory (CGL), and Whole Genome Laboratory (WGL)).
Learning Activities
Students will attend a two-week rotation at the Medical Genetics Laboratories (MGL), located at the McGovern Campus. Emphasis will be on proper utilization and interpretation of these tests and clinical correlations. The students will be exposed to the following diagnostic laboratory testing: 1) Cytogentics-exposure to the standard karyotype analysis, FISH techniques, and comparative genomic hybridization. Diagnoses include: Velocardiofacial syndrome, Down syndrome, etc.; 2) Biochemical genetics - overview of testing instrumentation and weekly sign-out which will allow familiarization with sophisticated analytical chemistry, such as amino acids, organic acid analysis, and lysosomal enzyme determinations. Diagnoses include Phenuylketonuria, Ornithine Trans Carbamaolase deficiency, etc.; 3) Molecular genetics - exposure to constitutional and mitochondrial diagnostic testing techniques including whole exome sequencing. Diagnoses include Myotonic dystrophy, Fragile X, Lebers Hereditary Optic Neuropathy, etc.; 4) Cancer gentics - weekly sign-out and didactic lecture. Diagnoses include leukemias and solid organ tumors. Didactic sessions will include attending the 1) chromosome miscroarray, 2) mitochondrial, and 3) whole exome sequencing sign-out meetings. Additional teaching held each week by the genetics department including a Monday noon conference, Thursday post-clinic conference and Friday Grand Rounds all of which review topics of clinical relevance. the MGL has a database which will be accessable to the students for case review.
Evaluation Methods
Students will be evaluated by the course director regarding their attendance, participation and profession manner. On the last day of the elective, each student will be required to give a 20-30 minute oral presentation of a specific case/genetic diagnosis identified during his/her rotation. This presentation will be evaluated by the course director and the director of the specific medical genetic laboratory to which the case pertains.
When and Where to report on first day of service:
Arive 8:30-9:00 am at the Mc Govern Campus
For additional information regarding this elective contact:
Contact Name: Lorraine Potocki, MD
Contact Phone: 832-822-4290
Contact Fax: 832-825-4294
Contact Location: TCH CCC1560
Address:
Email: lpotocki@bcm.edu
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