Clinical Cytogenetics

The cytogenetics laboratory is located at Brigham and Women's Hospital, and serves BWH, BIDMC, CH, DFCI, MGH, all of Partners Healthcare's facilities and other independent facilities throughout the United States. The laboratory faculty are: Cynthia C. Morton, Ph.D., Director; Frederick R. Bieber, Ph.D.; Paola Dal Cin, Ph.D.; Jonathan A. Fletcher, M.D.; Anne B.S. Giersch, Ph.D.; Anne W. Higgins, Ph.D.; Azra H. Ligon, Ph.D.; Charles Lee, Ph.D.; Mary Sandstrom, Ph.D.; Stanislawa Weremowicz, Ph.D.; and Sheng Xiao, M.D.

The laboratory processes a full range of cytogenetic specimens, including peripheral blood, skin fibroblasts, chorionic villus biopsy, amniotic fluid, bone marrow aspirates, and solid tumors. Residents spend 1-2 weeks in the laboratory working closely with a Senior Cytogeneticist.

Clinical Molecular Genetics

Residents spend one month in the Molecular Diagnosis Laboratory at Children's Hospital and one month in the Molecular Neurogenetics Laboratory at Massachusetts General Hospital. The laboratory director at Children's Hospital is Dr. Bai-Lin Wu. Residents learn methods of DNA isolation, PCR, and Southern analysis, applied to diagnosis of fragile X, Duchenne/Becker dystrophy, cystic fibrosis, Prader-Willi/Angelman syndrome, mitochondrial disorders, and Y chromosome anomalies. Both direct mutation tests and linkage-based tests are performed, and residents are involved in both laboratory analysis and risk calculation. The MGH laboratory is directed by Dr. Katherine Sims. A variety of neurogenetic disorders are studied in this laboratory, including NF2, dystonia, and Norrie disease.

Biochemical Genetics

Residents spend one month at Massachuetts General Hospital under the supervision of Vivian Shih, M.D., and one month at the Eunice Kennedy Shriver Center in Waltham, MA, under the supervision of Marvin Natowicz, M.D., Ph.D. At MGH they will become familiar with amino acid analysis (ion exchange chromatography) and organic acid analysis (gas chromatography/mass spectometry). At the Shriver Center, residents will be exposed to a number of different metabolic technologies, including thin layer chromatography (for analysis of simple sugars, mucopolysaccharides and oligosaccharides); HPLC (urine sulfatide analysis); spectrophotometric, fluorometric and isotope-based enzyme assays; gas chromatography-mass spectrometry (e.g., very long chain fatty acid analysis); fast atom bombardment-mass spectrometry (analysis of urine bile acids); and tissue culture.