Study to better understand the genetic components associated with cutaneous (skin) disease

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For questions and more information about this study, please contact the team using the information below.
Study coordinator
Name - Iryna Rybak
Email -
Phone - 916/734-1509

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"Help us discover the genetic basis of skin disorders."
Age: 1-100
Healthy Volunteers: No
Keywords: skin condition
Type: Other
Many skin diseases are driven by specific genetic mutations. You are (or your child) is invited to participate in a research study to discover the genetic basis of a skin disorder. You are (or your child is) asked to participate because you have (or your child has) a skin disorder. You (or your child) may or may not have an inherited skin disorder
This study requires

Blood draw or a buccal swab (a swab that is collected from the inside of the cheek to collect DNA from those cells)

If your (or your child’s) skin condition involves hair, we may ask to take a sample of your (or your child’s) hair, either by cutting a small sample, or plucking a few hairs. If your (or your child’s) skin condition involves the nails, we may ask to clip a small sample of your (or your child’s) nail. If you (or your child) have a mosaic skin condition or a skin neoplasm (growth) or a rash, we will request a skin biopsy of your (or your child’s) skin condition

We may ask you about other members of your family and whether or not they have a skin disorder. From this information we will make a family tree, or pedigree, that lists you or your child and all the members of your family and whether or not they have the skin disease. The information that is collected will pertain solely to history of skin diseases and any health complications that may contribute to that disease. Personal information about other members of the family (such as name) will not be collected.

Photograph showing the areas of skin disease. We will ask for your permission to use this photo in scientific publications and/or presentations. Your (or your child’s face) face will be covered in a way that you (or your child) cannot be identified if that is preferred by you

Who can participate

Inclusion criteria: • Male or female subjects that are 18 years or older • Male or female subjects that are 18 years or younger whose legal guardian provides informed consent. For subjects less than 18 years of age, only buccal swab for DNA isolation will be performed. We will not be drawing blood or performing biopsies, unless biopsies are indicated for routine clinical diagnostic testing, on subjects less than 18 years of age. • Subjects with active cutaneous, hair or nail disease

Exclusion criteria: • As above, no blood draws or skin biopsies, unless indicated as standard of care for routine clinical diagnostic testing,will be performed on subjects less than 18 years of age for the purpose of this study.

Benefits and risks of participating
This research study may not directly help you (or your child), but it will help researchers better understand the genetic component associated with cutaneous (skin) disease

There is a low chance for any psychological, social or legal injury from the participation.
Physical risks may include:
• From blood draw: Bruising and pain
• From the buccal swabs: Irritation and/or a local allergic irritation
• From the hair sampling: Brief discomfort
• From the nail sampling: Brief discomfort
• From the skin biopsy: Pain, bleeding, scar, infection, failure to resolve the condition
• From the Genetic Research:

Genetic research will be performed as part of this study. All reasonable efforts will be made to protect the privacy of your records, however, such protection cannot be guaranteed. You should be aware that employers and insurance companies may seek to use this information to deny employment and insurance coverage.

This study does not involve genetic testing; it is aimed at developing such testing for the future, but cannot currently provide meaningful information about participants. Since this is the case, if you are asked, you should not report this as having had genetic testing.

Genetic resesearch aims at finding unknown genes, learning how genes work, developing test for future clinical use, or advancing our understanding of genetic conditions. The results of genetic research are typically not available to the to patients or their healthcare providers. Clinical genetic testing on the other hand is done to find out about a known inherited disorder in an individual patient or family. The individual patient or family will receive the results of a clinical genetic test and can use them to make decisions about their medical care.
Subjects that are recruited for DNA isolation by buccal swab, blood draw, or DNA and/or RNA isolation by skin biopsy will be compensated with $25 by check or gift card since their tissue will be removed specifically for research purposes
Study duration and period
One visit, approximately one hour
Recruitment period
From Aug. 2, 2017
UC Davis Department of Dermatology
3301 C Street
Suite 1300-1400
Sacramento, CA 95816
Iryna Rybak

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