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Electives - Pediatrics



Elective Number: (Oasis E62e) 2404

Rotation Supervisors: Drs. William Wilson, Jennifer Humberson, Old Medical School, room 1801

Duration: 4 weeks through Lottery; 2 weeks by arrangement

Available: 3-12, 13a & 14 - Class of 2019

Report to: Dr. Wilson

Time to Report: 8:00 am

Place to Report: Old Medical School, Room 1801

Typical day: 8:00 am - 5:00 pm

Attendance: Attendance at elective activities is mandatory.

  • Anyone who is ill or has a personal or family emergency must contact Student Affairs and the Attending on Service.
  • Students are allowed to take off up to 1 day per week to interview between October 1 and February 1.
    • Specific days missed must be approved by the Attending on Service.

Number of students per rotation: 1 or 2 by special arrangement

Course Description: Through clinics, conferences, ward rounds and seminars, the student will receive a sound understanding of the application of the principles of human genetics to clinical medicine. Emphasis is placed on clinical evaluation including physical diagnosis, x-ray interpretation, developmental assessment and the use and interpretation of appropriate laboratory tests. The student will be given an opportunity to participate in the following activities: genetics clinics at UVA, satellite genetic clinics, ward and nursery consultations, genetic counseling sessions, prenatal diagnosis conferences and the service and activities in the cytogenetics, and biochemical genetics laboratories. There will be a 2-night overnight clinic trip, but no other night or weekend call.

Learning Objectives: After completion of this elective, the student will be able to:

  • Take, record, and interpret a 3-generation family pedigree
  • Perform a physical examination for dysmorphic features
  • Measure height, arm span, upper segment and lower segment, and calculate and interpret ratios
  • Recognize the physical findings associated with common chromosome abnormalities (such as Down syndrome, Turner syndrome, Trisomy 13 and 18)
  • Recognize the clinical findings associated with common microdeletion syndromes (Williams syndrome, DiGeorge syndrome, etc.)
  • Evaluate molecular testing options for patients, taking into account cost, turn-around-time, accuracy, service)
  • Understand the genetics approach to the evaluation of intellectual disability and autism
  • Understand the genetics and epidemiology of common single-gene cancer syndromes
  • Recognize and interpret the findings in common single gene disorders (for example, neurofibromatosis, tuberous sclerosis, achondroplasia, Fragile X syndrome, Marfan syndrome, Ehlers-Danlos syndrome
  • Understand the confirmation and follow-up for common abnormalities found on the Virginia state newborn screen
  • Understand the nutritional management and follow-up for PKU