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Training and Curriculum

The goal of the Medical Genetics fellowship program is to provide further specialized training for MDs who have completed a residency in Medical Genetics. The fellow may choose to specialize in different areas of Medical Genetics research, including Clinical Biochemical Genetics, Clinical Molecular Genetics or Clinical Cytogenetics.

For those physicians who plan a career in academic genetics, there is a need for further experience and training in research after a residency in Medical Genetics. We, therefore, offer the Fellowship in Genetics - Research Track. In this track, the fellow works in the research area of their choice, laboratory or clinical, under the supervision of a mentor.

Some individuals who have completed a residency in Medical Genetics which led to board certification by the American Board of Medical Genetics and Genomics (ABMG) in Clinical Genetics may also wish to become board certified in other specialty areas offered by the ABMG, such as Clinical Biochemical Genetics, Clinical Molecular Genetics, or Clinical Cytogenetics. The Fellowship in Medical Genetics - Clinical Laboratory Specialty Track, offers these individuals the one additional required year of training in Clinical Biochemical Genetics, Clinical Molecular Genetics, or Clinical Cytogenetics.

Fellowship in Clinical Biochemical Genetics

In this program, the fellows will receive training in all aspects of operating and directing a biochemical genetics laboratory, including:
  • The clinical interpretation of laboratory tests and their use in diagnosis and management of metabolic disorders.
  • The technology of commonly used laboratory tests in clinical biochemical genetics.
  • The basics of the pathologic biochemistry of metabolic disorders.
  • Research experience in a relevant area.

The fellow will be involved in the evaluation and management of patients in the outpatient clinic for biochemical genetic disorders, patients admitted to the hospital and the clinical research unit with metabolic diagnosis, and inpatient metabolic consults. The fellows participate in the daily clinical interpretation and associated telephone consultation of all laboratory tests of the Mass Spectrometry facility and the Glycogen Storage Disease laboratory. The fellows will familiarize themselves with the technical aspects of the current clinical laboratory tests performed in our laboratories (e.g., organic acids, amino acids, acylcarnitines, carnitine levels, glycogen storage enzyme assays) and will participate in technical laboratory seminars.

 
Relevant research areas include:
  • Carnitine and organic acidurias
  • Fatty acid oxidation defects
  • Application of mass spectrometry to newborn screening
  • The molecular basis of glycogen storage diseases
  • Enzyme replacement therapy and gene therapy

Laboratory Directors

 
David Millington, PhD
Director, Mass Spectrometry Laboratory
 
Sarah Young, PhD
Assistant Professor of Pediatrics 

Deeksha Bali, PhD
Director, GSD Laboratory


Fellowship in Clinical Molecular Genetics

The two-year postdoctoral Fellowship in Clinical Molecular Genetics has been developed to meet the training requirements established by the American Board of Medical Genetics and Genomics (ABMG) to train laboratory directors. The training is broadly-based covering a wide range of areas in medical genetics with specific concentration on the skills and knowledge needed to effectively direct a molecular diagnostic laboratory. The fellow will study specific areas of molecular diagnosis and learn to identify, perform, and interpret a wide range of molecular techniques. In addition, the fellow will learn to function as a consultant to clinicians, genetic counselors, and other genetic professionals.

Laboratory Directors

Deeksha Bali, PhD
Director, GSD Laboratory

Siby Sebastian, PhD
Director, Molecular Genetics Laboratory
 
Kenneth Friedman, PhD
LabCorp Site

Fellowship in Clinical Cytogenetics

The two-year postdoctoral Fellowship in Clinical Cytogenetics has been developed to meet the training requirements established by the American Board of Medical Genetics (ABMG). At the completion of the program, the fellow will have gained indepth knowledge of all aspects of clinical cytogenetics including: biology and genetics of chromosomes; analytical cytogenetic techniques, including adjunctive/ancillary testing (FISH and molecular testing); array-CGH; cytogenetic nomenclature; genetic counseling issues for chromosome disorders; and the administrative skills required to direct a full service clinical cytogenetics laboratory. In addition, the fellow will learn to function as a consultant to clinicians, genetic counselors, and other genetic professionals and will have gained an appreciation of the natural history and clinical heterogeneity of cytogenetic disorders. 

Laboratory Directors
 

Barbara Goodman, PhD
Director, Cytogenetics Laboratory
 
Catherine Rehder, PhD
Associate Director, Cytogenetics Laboratory

Peter Papenhausen, PhD
LabCorp Site

 
James Tepperberg, PhD
LabCorp Site
 
Indira Gadi, PhD