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Department of
Genetics

Yale University
School of Medicine
333 Cedar Street
New Haven, CT
06510 USA

The Department of Genetics offers training leading to board eligibility in the ABMG specialty, Clinical Molecular Genetics.  While research activities constitute an important part of this training, the program goal is to prepare qualified candidates for directorship of clinical laboratories.  The broad goals of the program are to teach trainees about:

• Gene structure
• Types of mutations found in human genes
• Diagnostic strategies for detecting different types of mutations
• Types of samples that can be used for DNA-based and RNA-based studies
• Limitations of molecular diagnostics
• Quality control and government regulation in DNA Diagnostics Laboratories.

Candidates for the Clinical Molecular Genetics Fellowship must have a PhD in Genetics or Biomedical Science with a very strong background in medical genetics or an MD with relevant laboratory experience.  During their training in the DNA Diagnostics Laboratory trainees learn the basics of testing procedures, appropriate test selection based on clinical indications, the significance of normal and abnormal results for each test, and the various components of a report. They also participate in the daily review of test results and interpretation.

In addition trainees are required to take a limited number of graduate courses and attend clinics, where they have the opportunity for supervised contact with patients.  Throughout the training period, fellows are expected to engage in high-quality research projects related to their clinical activities. 

Currently, the lab performs approximately 700 tests annually, which include:

• Ashkenazi BRCA 1 and 2 mutations
• Familial BRCA 1 or 2 mutation (non – Ashkenazi)                
• Cowden syndrome
• Fragile X                                                                     
• Classic Galactosemia (GALT common mutations)                      
• Gaucher Disease  (11 mutation panel)                                       
• Gorlin (nevoid basal cell carcinoma) syndrome
• Hemophilia A (common rearrangements)                             
• Medium chain acyl dehydrogenase deficiency                                  
• Melanoma (P16(CDKN2a), CDK4)                                       
• Multiple endocrine neoplasia type I (MEN1)
• Multiple endocrine neoplasia type IIa, Iib, FMTC  
• Ornithine transcarbamylase deficiency
• Uniparental Disomy                                                   
• DNA preparation alone                                                           
• Prenatal maternal contamination study.

Techniques in routine use in the laboratory include:

• DNA extraction
• PCR
• Southern blotting
• DNA sequencing

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Last modified: Friday, 13-Feb-2009 18:10:37 EST . (gs)





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