Derivation and Characterization of Keratinocytes in Healthy Volunteers
Fanconi anemia is an inherited genetic disorder which results in a decrease in the body"s ability to repair damage to DNA. The main features of the disorder are bone marrow dysfunction and cancer predisposition. Squamous cell carcinomas of the head and neck are the most commonly diagnosed solid tumors in patients with Fanconi anemia. These tumors originate from skin cells called keratinocytes. In patients with Fanconi anemia the tumors are more aggressive and develop at an earlier age than in persons without the disorder. The tumors are also more difficult to treat in patients with Fanconi anemia since they experience extreme toxicity from standard therapies such as chemotherapy and radiation. Prevention of this type of cancer is therefore critically important. Understanding the steps in the development of squamous cell carcinomas and the reasons why the cells involved become cancerous can help us to develop ways to prevent this process from occurring. Our current study aims to grow and characterize keratinocyte cells from healthy individuals. Eventually we will also study these cells from patients with Fanconi anemia. By doing this we hope to learn why these cells are particularly susceptible to developing tumors in the context of the genetic changes seen in Fanconi anemia. Since the DNA damage repair pathways that are dysfunctional in Fanconi anemia are present in all humans the information we gain will also help us to understand more about cancer susceptibility in the general population.
- Fanconi anemia
- Eligible Ages
- Between 18 and 25
- Eligible Genders
- Accepts Healthy Volunteers
- 18 - 25 years of age male or female
- Healthy (to be confirmed by a brief history and physical exam)
- Presence of scalp hair and willingess to have strands removed
- Must consent to sharing samples for separate future research studies
- Past or current diagnosis of any type of cancer
- Diagnosis of inherited cancer predispoition syndrome including but not limited to Li-Fraumeni Syndrome Bloom Syndrome Xeroderma pigmentosum
- Known allergy to lidocaine or other local anesthetics
- Diagnosis of hemophilia or other severe disorder of coagulation
- History of keloid scarring
- History of autoimmune or inflammatory disease
- Current active infection requiring systemic antibiotics
- Treatment with systemic immunosuppressive medications for any reason within the past eight weeks.
- Any condition that in the clinical judgment of the investigator would jeopardize the well-being of the particpant during any study procedures or affect the integrity of the data.
- Study Type
- Rockefeller University
Study ContactRecruitment Office