Laboratory Genetics and Genomics Fellowship

 

Director - Laura Pollard, PhD

 

Candidates with an M.D. or a Ph.D. degree in one of the basic sciences may enter this program. The Laboratory Genetics and Genomics (LGG) fellowship is a three year program that allows the trainee to gain competence in performing and interpreting cytogenetic analysis relevant to the diagnosis and management of chromosome disorders, as well as in all molecular analyses relevant to the diagnosis of genetic disorders at the gene level. The trainee will also gain research experience by participating in on-going research projects and by conducting independent research.

Training is conducted through both the DNA Diagnostic and Cytogenetics Laboratories of the Greenwood Genetic Center. The DNA Diagnostic Laboratory handles blood, amniocytes and CVS tissue samples for molecular analysis. The trainee will gain expertise in DNA and RNA isolation, PCR, Southern blotting, RFLP analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA), Pyrosequencing, and DNA sequencing – both Sanger and NextGen. The Cytogenetics Laboratory provides training in routine G-banded analysis, special staining such as C-banding, silver staining, R-banding, and Q-banding, fluorescence in situ hybridization (FISH) and array CGH for the diagnosis of microdeletion and microduplication syndromes, the detection of aneuploidy in uncultured cells, and the identification of marker chromosomes.

At completion of the program, LGG Fellows will possess the skills required for certification by the ABMGG, including competence in:

  • Supervising and directing the operations of a clinical cytogenetics and/or molecular genetics diagnostic laboratory, including technical experience and knowledge in quality control and quality assessment procedures.
  • Performing a variety of cytogenetic and molecular diagnostic assays;
  • Understanding of the heterogeneity, variability, and natural history of chromosome and molecular genetic disorders;
  • Diagnostic and interpretive skills in a wide range of clinical molecular genetics and cytogenetics problems.
  • Communicating molecular and cytogenetic diagnostic laboratory results in the capacity of a consultant to medical genetics professionals and other clinicians, and directly to patients in concert with other professional staff.

By attending weekly clinic conference, weekly laboratory conference, and monthly state-wide case review, the trainee will interact with clinical geneticists, genetic counselors and others who refer patients for cytogenetic and/or molecular testing. This interaction will allow discussion of pertinent clinical features corresponding with laboratory findings and will permit the opportunity for discussion of counseling issues such as long term prognosis, family studies, recurrence risks, and additional laboratory testing. In addition, the trainee is required to participate in a core course in Advanced Human Genetics by attending all lectures and by limited teaching responsibilities.

Application Process

Applications for the 2019 Fellowship Program are currently closed.

Applications for the 2020 Fellowship Program are due by August 1, 2019 and should include the application form, CV, statement of intent, and three letters of recommendation. Materials should be submitted via email to Leta Tribble, PhD.

Meet our trainees

Jennifer Gass, PhD - LGG Fellow

Kameryn Butler, PhD - LGG Fellow

Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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