Exploring genes for clinical application

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Divisional research continues to focus on clinical and translational human genetic investigation. Faculty collaborate with colleagues throughout The Ohio State University Wexner Medical Center and the world.

Objectives of research conducted in collaboration with patients and their families seen in the clinic include:
  • Identifying and characterizing genes that cause susceptibility to inherited syndromes
  • Defining their role in disease processes
  • Performing molecular epidemiological analyses as they might relate to future clinical applications
Available research samples

Available research samples

The Division of Human Genetics has ongoing protocols for the collection of samples from breast cancer patients and controls for use in human genetics research. Accompanying clinical and family history information is also available.

Breast Cancer Patient Samples

These samples are from incident breast cancer cases diagnosed in Columbus, Ohio. We currently have approximately 2000 peripheral blood DNA, RNA, plasma and cell line samples. We also have samples from paraffin embedded tissues (tumor and adjacent normal tissue, DNA and RNA and tissue microarrays with tumor and adjacent normal cores) for 837 of these patients. Race, age at diagnosis, first degree family history information and pathology information (stage, grade, ER/PR/Her2-neu status, histology) are available. We are currently collecting treatment and outcome data on a subset of approximately 600 of these patients. 

Contact
Rob Pilarski, MS, LGC
Robert.Pilarski@osumc.edu

614-293-7774

Control Samples

Our disease-specific sample collections become more valuable with the availability of these population-matched controls accrued through primary care clinics in the OSUWMC system. Over 1500 control samples are currently available from patients unselected for a personal or family history of cancer. An average of 50 to 60 new subjects are added each month. Available tissues include peripheral blood DNA, RNA, plasma and cell lines. Samples have information on age, sex, personal and family health history, self-identified race and ethnicity. Specific efforts are made to recruit numbers of participants, with respect to race and ethnic background, that are representative of the Columbus, Ohio area. 

Contact

Rob Pilarski, MS, LGC
Robert.Pilarski@osumc.edu
614-293-7774

Use of Specimens by Investigators

Interested researchers should complete an application form and provide documentation of having an IRB-approved protocol that discusses the use of the requested samples. Investigators will have the option of requesting samples with specific characteristics such as gender, age, clinical features, family history, presence or absence of specific diseases, etc. We also provide sample processing and banking services for patients that you accrue to your own protocols.

Contact

Sample banking services contact:
Lori Nelsen and Chris Bigley
Sample Bank Managers
Genetics.Sample.Bank@osumc.edu
614-293-4685

Study coordination services contact:
Heather Hampel, MS, LGC
Certified Genetic Counselor
Heather.Hampel@osumc.edu
614-293-7240