Overview

The Medical Biochemical Genetics fellowship is a one year training experience that provides an integrated approach to the diagnosis and management of patients with inborn errors of metabolism. The program integrates all aspects of clinical patient care including both inpatient and outpatient settings and laboratory diagnosis throughout the year. During the clinical months, a combination of inpatient and outpatient responsibilities will allow fellows to maintain continuity of care in the management of patients with metabolic diseases. Didactic sessions and clinical conferences are ongoing throughout the year.

Laboratory Rotation (1 month): Fellows will rotate through the Biochemical Genetics and Metabolic Disease laboratories during the first month of training. The Biochemical Genetics laboratory specializes in amino acid, organic acid, and acylcarnitine analysis, while the Metabolic Disease laboratory focuses on the analysis of mucopolysaccharides and Lysosomal enzyme assays. During the laboratory month, fellows will review the clinical histories of patients from whom samples have been collected for biochemical genetic testing. They will review processing and methods of analysis for each sample type, and achieve a basic understanding of various laboratory techniques. The resident will also meet with the laboratory director twice a week for didactic sessions and to review results of clinical biochemical testing. Meetings with the laboratory director will continue on a twice a month basis while on clinical rotations.

Inpatient Consultations (10 months, 10-20 hours per week): Our biochemical/metabolic genetics program currently functions as a consult service only, without a primary inpatient service. Biochemical genetics fellows will be responsible for aiding in the diagnosis and management of metabolic patients who are admitted to general medicine services.  While on call for inpatient consultations, the fellow will have progressive responsibility in management of hospitalized patients and will answer after-hours calls from patients with metabolic disorders. In months when a medical genetics resident is on service, the fellow will serve as an acting attending and review all consults and phone calls with the resident before discussing the plan with an attending physician.

Outpatient Clinics (11 months, 20 hours per week): Since our metabolic genetic service is a consult service only, the fellow will also be expected to spend two days per week in metabolic clinic with Dr. Maria Descartes. This is an interdisciplinary clinic where physicians and metabolic dieticians work together in the management of patients with a variety of inherited metabolic diseases. During the clinical months, the fellow will also be involved in reviewing abnormal newborn screening results on a weekly basis with the newborn screening coordinator. Additionally, one month will be dedicated to exposure to other subspecialty clinics, including pediatric neurology, rehabilitation, and surgical specialties.

Research / Scholarly Activity (11 months, 10-20 hours per week): Fellows will be expected to identify an area of research or scholarly activity at the beginning of their training. They will work with a clinical or basic science research mentor to develop this project over the course of the year. Fellows are encouraged to become involved in ongoing research activities and attempt to present or publish research by the end of the fellowship year.

Visiting Elective (1 month): Fellows may elect to spend up to one month at another institution in order to focus on a clinical or laboratory specialty that may not be available at the home institution. Electives at other institutions must be approved by both the home and host programs.


Applying to the Medical Biochemical Genetics Fellowship Program

Application Eligibility

Applicants must have successfully completed a residency in medical genetics, and be either 1) US citizens, or 2) possess a currently valid certificate from the Educational Commission for Foreign Medical Graduates (ECFMG), or have a full unrestricted license to practice medicine in the US licensing jurisdiction in which they are training.

Application Materials

Interested applicants should contact Program Director Dr Lane Rutledge (rutledge@uab.edu) or Program Coordinator Sandra Pilkinton (spilkinton@uab.edu) prior to submitting their application materials to ensure availability of a training position.

The following documents are required by our program to be reviewed by our internal selection committee:

  • Current photo
  • Personal statement
  • Medical school transcript
  • Three letters of recommendation
  • Dean's letter
  • For international graduates, copy of your ECFMG certificate, if available