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(EFU-0529) Gene expression, differentiation, and hair disorders in human skin


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Gene expression, differentiation, and hair disorders in human skin (EFU-0529)

Principal Investigator:
Elaine Fuchs Ph.D.

Investigators:
James G. Krueger M.D., Ph.D.

Contact Information:
Elaine Fuchs, PhD
Rockefeller University
1230 York Avenue
New York, NY 10021
Telephone: 212-327-7953
FAX: 212 327-7954
Enrollment Status:
Closed to Enrollment

Brief Summary of Protocol:
The reason for doing this research is to determine whether the candidate gene that Dr. Fuchs and her co-workers have identified from their basic research on mice and tissue culture is defective in the skin condition that you or one or more of your family members have. If so, this research will help to determine the genetic basis of the skin disorder.



Detailed Description of Protocol:
You/your child are being asked to participate in these studies by allowing us to take two small skin samples and a blood sample.

Each skin sample, called a punch biopsy, is a small cylinder (~1/4 inch in diameter) of skin that is removed, typically from the arm or leg.

Prior to taking the sample, a local anesthetic, lidocaine, is injected. The skin around the biopsy site is pulled tight and a punch (a hollow instrument) is firmly introduced into the skin and rotated to obtain a sample; then the punch is removed. Profile:
If you/your child join the research study, you will take part for approximately 1 hour, with the potential of one follow-up visit.

The research study as a whole will last about 1 year.

About 10-50 people will take part in the research study.



What specifically makes a person eligible for the study?
You may be eligible to enter this study:

Participants are otherwise healthy individuals with a genetically inherited skin or hair disease, or a family member of someone with such a disease.

In the case of material for adult hair follicle studies, the subjects may be healthy volunteers.

Gender:
Both

Age(s):
All Ages

Children permitted to participate:
Yes

Potential Benefits.....
You/your child will receive no immediate direct benefit from participating in this study. You/your child may benefit indirectly, or at a later time from the knowledge gained in this research study.



Compensation:
No more than $50, a one time compensation, for reimbursement of travel/time expenses will be offered to any of the participants.