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Deadsea Tips

Planning on going to the Dead Sea? Here are some items you may want to take along with you; Jess, Roxanne and I all found them a big help when we went.

  1. A timer, to keep time while you are taking your treatment in the sun.
  2. Flip/flops. Rubber shoes for going down to the Dead Sea. There's alot of rocks there.
  3. Squeeze-top plastic bottles for your cream.
  4. Gatorade or any other kind of electrolyte drinks.
  5. Zinc paste, as well as your PC-KUS.
  6. Two or 3 swimsuits. The water is extremely salty and more than one swimsuit does help, since you take your treatments 2x's a day.
  7. Reading materials.
  8. Loose, linen shorts, a sun hat and casual clothes. Some long-sleeved clothes for excursions and going into town. Some semi- dress clothes for dinner. Maybe a sweatshirt and sweatpants or sweater, since November nights might be a little cool.
  9. Mini pillow for the plane ride over. (Quite a long flight)
  10. Tote bag or beach bag for water, cream, and personal items while going for treatment.
  11. Headband, and or pony holders to get hair up while going in water and treating your Vitiligo.
  12. Alarm clock for getting you up in the morning for your treatment.
  13. Extra batteries for any electrical items you may bring.
  14. A table fan or mini fan for personal use, while sunbathing. It does get VERY hot in the sun and fans are limited. You may want to bring your own, I am.
  15. Addresses of loved ones for post cards.
  16. Maybe headphones with some tapes, etc. Three weeks is a long time away from the comforts of home.
  17. Please note, the electrical system is different than the US, so be sure to bring plug adaptors.
  18. A rope/clothesline and some clothespins for hand washing your clothes.

-Stella

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RESEARCH STATEMENT FOR THE AMERICAN VITILIGO RESEARCH FOUNDATION

Vitiligo is a pigment disorder of the skin, which is seen on patients as de-pigmented areas of the skin that may gradually enlarge. Vitiligo is a common condition, affecting about 1% of all racial groups worldwide, and predisposes affected persons to skin damage by sunburn. Vitiligo is also associated with an increased risk for other autoimmune diseases, such as thyroid conditions. The current treatments for vitiligo are difficult, expensive, and often disappointing. The cause of vitiligo is unknown, but is thought to involve both genetic and environmental factors. Vitiligo sometimes runs in families, and one study found that 20% of the relatives of vitiligo patients also have vitiligo, with the highest risks for children and siblings of patients. This suggests that some people are born with genes that make them more susceptible to developing vitiligo. These genes may be important for the normal function of the pigment-producing cells in the skin (melanocytes) and/or in cells of the immune system (lymphocytes). Environmental factors, such as traumatic skin injury, sunburn, or stress, appear to influence whether or not an individual with those “susceptibility genes” will develop vitiligo during their lifetime.

By identifying disease susceptibility genes, we can learn more about the cause of vitiligo. Depending on which genes are involved, what their normal functions are, and what genetic changes are found in vitiligo patients, it might be possible to design new treatments based on understanding those genes. Knowing which genes are important may also allow genetic testing for individuals that might be predisposed to having vitiligo, so that environmental risk factors can be more carefully avoided. Theoretically, it is possible that future advances in gene therapy might also help susceptible or affected persons.

At the University of Florida, under the direction of Drs. Margaret “Peggy” Wallace and Wayne T. McCormack, we are using “case/control association” to try to identify vitiligo susceptibility genes. Case/control studies compare the variations of potential vitiligo susceptibility genes that are present in patients compared to an unaffected control group. A gene variant or change will be considered to be associated with vitiligo susceptibility when it is found more often in vitiligo patients than in controls. Large numbers of association tests must be performed for the most reliable statistical results, and repeating the studies in different populations or ethnic groups is extremely useful to confirm real associations. We are also using “family-based association,” which requires DNA samples from family members of the vitiligo patient. Families with one or more affected children can be analyzed, and statistical tests can help determine whether a particular genetic change in a vitiligo susceptibility gene is passed from parents to affected children more frequently than expected due to random chance. The advantages of family-based association studies include the use of families with any number of affected children, and the combining of information from multiple ethnic groups and/or geographical populations.

The goal of these studies is to test the hypothesis that susceptibility to vitiligo is a complex genetic trait involving a number of genes. Some of the genes we are investigating are known to be expressed in melanocytes, which may predispose them to self-destruction and/or target them for autoimmune destruction. Other genes we are investigating are known to be involved in the immune system, which may contribute to the autoimmune response in vitiligo patients. The long-term goals of this research include determining whether “at risk” individuals can be identified in families with a history of vitiligo, which might influence the choice of strategies for treatment or prevention of vitiligo, and whether novel therapies that might prevent or ameliorate vitiligo can be devised based on an understanding of vitiligo pathogenesis and genetic susceptibility. In addition, these studies may contribute to an overall understanding of genetic susceptibility to autoimmune disease, given the possible association of vitiligo with other autoimmune endocrinopathies.

 

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AVRF 2007 PROGRESS REPORT

Grant Title : “The Role of Genetics in Vitiligo Susceptibility”

Period being reported: June 1, 2006 – May 31, 2007

Principal Investigator : Margaret R. Wallace, Ph.D.

Professor, Dept. of Molecular Genetics and Microbiology

Box 100266 , University of Florida College of Medicine

1600 S.W. Archer Road

Gainesville , FL 32610-0266

(352) 392-3055 (phone)

This email address is being protected from spambots. You need JavaScript enabled to view it.

Co-Principal Investigator : Wayne T. McCormack, Ph.D.

Associate Professor,

Dept. of Pathology, Immunology, & Laboratory Medicine

Box 100275 Health Science Center

University of Florida College of Medicine

Gainesville , FL 32610-0275

(352) 392-7413 (phone)

This email address is being protected from spambots. You need JavaScript enabled to view it.

Summary of Progress :

Vitiligo is a skin disorder that results in areas of depigmentation that may gradually enlarge. Vitiligo is common, and the average age of onset is about 20 years old, so half of all vitiligo patients develop the condition during childhood or adolescence. Vitiligo may predispose affected persons to sunburn, and an increased risk for some other autoimmune diseases, such as thyroid conditions. Most current treatments for vitiligo are difficult, expensive, and often disappointing.

The cause of vitiligo is unknown, but it is thought to involve both genetic and environmental factors. Vitiligo sometimes runs in families, and one study found that 20% of the relatives of vitiligo patients also have the disease, with the highest risks for children and siblings of patients. This suggests that some people are born with genes that make them more susceptible to developing vitiligo. However, environmental factors such as traumatic skin injury, sunburn, or stress, appear to influence whether or not an individual with those “susceptibility genes” will develop vitiligo during their lifetime. In some patients, progression of the vitiligo appears to involve an immune response against the patient's own melanocytes (pigment-producing cells); therefore, vitiligo is considered an autoimmune disease.

By identifying vitiligo susceptibility genes, we can learn more about the cause of this disorder. Depending on the genes involved, their normal functions, and the genetic changes that we, it might be possible to design new treatments based on understanding those genes. This knowledge may also lead to genetic testing to identify people predisposed to developing vitiligo. For these individuals, environmental risk factors can be more carefully avoided. Theoretically, future advances in gene therapy might also be developed to treat vitiligo, based on our discoveries.

In our 2006 AVRF grant project, we outlined our experimental design for genetic studies to test the hypothesis that susceptibility to vitiligo is a complex genetic trait involving a number of genes. With the help of hundreds of vitiligo patients and family members, our research at the University of Florida College of Medicine has been examining the genetic basis for predisposition to vitiligo. Several years ago, we collected DNA samples from vitiligo patients and their family members, and from healthy individuals with no vitiligo or autoimmune diseases, in order to perform “genetic association” studies of candidate genes. Candidate genes are genes that might be involved in causing vitiligo based on their functions in the melanocyte cells, in DNA repair, in oxidative stress, or in the immune system. In these genes, we have looked at variations in the DNA to see how common these variants are in vitiligo patients compared to people without vitiligo or other autoimmune disorders. The theory is that if a particular genetic marker is more common in vitiligo patients, then that marker may be “linked” to another nearby genetic change that alters the gene's function or regulation, and therefore contributes to the disease process. The long-term goals of this research include determining whether “at risk” individuals can be identified in families with a history of vitiligo (which might influence the choice of strategies for treatment or prevention of vitiligo), and contributing to the development of new therapies to prevent or treat vitiligo based on better understanding of the genetics of vitiligo. In addition, these studies may contribute to understanding other autoimmune diseases.

To date, we have characterized several genetic variants (called genotyping) in eight candidate genes in over 800 vitiligo patients and their family members. The results from these experiments allow us to do family-based association tests to determine if a candidate gene is associated with vitiligo. In a family-based association test, families with one or more affected members can be analyzed using statistical tests to determine whether a particular genetic change is seen more frequently in vitiligo patients than in family members. Another advantage of family-based association studies is that information from multiple ethnic and/or geographical populations can be combined. This statistical analysis is underway, now that the genotyping has just been completed.

An additional analysis we are doing with this data involves looking for differences in the frequency of genetic markers in vitiligo patients with different clinical characteristics. For example, we can examine if particular markers are associated with segmental vitiligo versus non-segmental. Also, information like the age of vitiligo onset, or the presence or absence of other autoimmune diseases can be analyzed. Because vitiligo is a complex disorder, this type of statistical analysis allows us to determine if certain genetic markers are associated with particular clinical features of vitiligo.

We are currently genotyping the same genetic markers examined in vitiligo patients in DNA from a group of healthy volunteers with no vitiligo or known autoimmune diseases. The genetic findings from this group will allow us to do a different type of statistical analysis, called a case-control study. Case-control studies compare the frequencies of a genetic marker in a patient group and a control group. The two groups are matched for ethnic and geographic origins, due to variations in gene frequencies among different populations. A marker is considered to be positively associated (or predisposing) when its frequency is significantly higher in patients than in controls. It is considered to be negatively associated (or protective) when it occurs at a significantly lower frequency in patients than in controls. Once we have all the DNA results from this control group, we can do the statistical analysis. If we find any positive (or negative) associations, we will look harder at those genes and variants to find out why they appear to contribute to (or protect from) vitiligo. If we do not find any significant associations, we have plans to study the next set of logical candidate genes with the same methods.

In summary, our AVRF-funded research seeks to identify gene markers linked to vitiligo susceptibility. Genetic markers are being compared for vitiligo patients, their family members, and control subjects. The ultimate goal of our research is to increase our understanding of what causes vitiligo in terms of susceptibility, disease onset, and progression. These studies aid in understanding the genetic factors involved in vitiligo. This genetic information may lead to clinical tests to determine if individuals are predisposed to having vitiligo, and may be the basis for developing treatments or preventions.  

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AVRF 2008 PROGRESS REPORT

Grant Title: “The Role of Genetics in Vitiligo Susceptibility”

Principal Investigator : Margaret R. Wallace, Ph.D.

Professor, Dept. of Molecular Genetics and Microbiology

Box 100266 , University of Florida College of Medicine

1600 S.W. Archer Road

Gainesville , FL 32610-0266

(352) 392-3055 (phone)

This email address is being protected from spambots. You need JavaScript enabled to view it.

Co-Principal Investigator : Wayne T. McCormack, Ph.D.

Associate Professor,

Dept. of Pathology, Immunology, & Laboratory Medicine

Box 100275 Health Science Center

University of Florida College of Medicine

Gainesville , FL 32610-0275

(352) 392-7413 (phone)

This email address is being protected from spambots. You need JavaScript enabled to view it.

Vitiligo Genetics Research at the University of Florida
College of Medicine

Introduction

Vitiligo is a pigment disorder of the skin, which is seen on patients as de-pigmented areas of the skin that may gradually enlarge.  Vitiligo is a common condition, affecting about 1% of all racial groups worldwide, and predisposes affected persons to skin damage by sunburn.  Vitiligo is also associated with an increased risk for other autoimmune diseases, such as thyroid conditions.  The current treatments for vitiligo are difficult, expensive, and often disappointing.  The cause of vitiligo is unknown, but is thought to involve both genetic and environmental factors.  Vitiligo sometimes runs in families, and one study found that 20% of the relatives of vitiligo patients also have vitiligo, with the highest risks for children and siblings of patients.  This suggests that some people are born with genes that make them more susceptible to developing vitiligo.  These genes may be important for the normal function of the pigment-producing cells in the skin (melanocytes) and/or in cells of the immune system (lymphocytes).  Environmental factors, such as traumatic skin injury, sunburn, or stress, appear to influence whether or not an individual with those “susceptibility genes” will develop vitiligo during their lifetime.

Genetic Studies

By identifying disease susceptibility genes, we can learn more about the cause of vitiligo.  Depending on which genes are involved, what their normal functions are, and what genetic changes are found in vitiligo patients, it might be possible to design new treatments based on understanding those genes.  Knowing which genes are important may also allow genetic testing for individuals that might be predisposed to having vitiligo, so that environmental risk factors can be more carefully avoided.  Theoretically, it is possible that future advances in gene therapy might also help susceptible or affected persons.

We believe that in addition to environmental factors that trigger vitiligo, some individuals are genetically susceptible to vitiligo, due to variations in multiple genes important for melanin biosynthesis, response to oxidative stress, and/or regulation of autoimmunity.  The goal of our research is therefore to test the hypothesis that vitiligo is caused in part by both autoimmune and autotoxic events in the epidermis due to genetic differences in genes involved in the regulation of the immune response, melanin production and oxidative stress.

We are using “case/control association” to try to identify additional vitiligo susceptibility genes.  Case/control studies compare the variations of potential vitiligo susceptibility genes that are present in patients compared to an unaffected control group.  A gene variant or change will be considered to be associated with vitiligo susceptibility when it is found more often in vitiligo patients than in controls.  Large numbers of association tests must be performed for the most reliable statistical results, and repeating the studies in different populations or ethnic groups is extremely useful to confirm real associations.  We are also using “family-based association,” which requires DNA samples from family members of the vitiligo patient.  Families with one or more affected children can be analyzed, and statistical tests can help determine whether a particular genetic change in a vitiligo susceptibility gene is passed from parents to affected children more frequently than expected due to random chance.  The advantages of family-based association studies include the use of families with any number of affected children, and the combining of information from multiple ethnic groups and/or geographical populations.

Previous Results

In 2002, we reported case-control and family-based association studies for the catalase gene (CAT) in vitiligo patients [Casp, C.B., J.X. She, & W.T. McCormack, 2002, Genetic association of the catalase gene (CAT) with vitiligo susceptibility, Pigment Cell Res. 15:62-66].  The CAT gene was selected as a candidate gene because the reduced catalase enzyme activity and accompanying accumulation of excess hydrogen peroxide observed in the entire epidermis of vitiligo patients.  One of three CAT genetic markers studied was found to be informative for genotypic analysis of Caucasian vitiligo patients and control subjects.  Both case/control and family-based genetic association studies of this genetic marker suggested possible association between the CAT gene and vitiligo susceptibility.  The observations that individuals who carried different gene variations (i.e., were heterozygous) are more frequent among vitiligo patients than controls and that the one variant is transmitted more frequently to patients than controls suggest that linked mutations in or near the CAT gene might contribute to a quantitative deficiency of catalase activity in the epidermis and the accumulation of excess hydrogen peroxide.  This evidence for the CAT gene as a vitiligo susceptibility gene in some vitiligo patients supports the epidermal oxidative stress model for vitiligo pathogenesis.

We also reported in 2002 that the LMP/TAP gene region is significantly associated with vitiligo [Casp, C.B., J.X. She & W.T. McCormack, 2003, Genes of the TAP/LMP cluster are associated with the human autoimmune disease vitiligo, Genes & Immunity 4:492-499].  These genes are located within the class II region of the major histocompatibility complex (MHC), which includes genes involved in antigen processing and presentation, and have been reported to be associated with several autoimmune diseases.  The LMP/TAP gene products are responsible for processing and transport of antigenic peptides for presentation to the immune system via MHC class I molecules.  Case/control analyses revealed genetic association of vitiligo in Caucasian patients with an early age of onset with the transporter associated with antigen processing-1 (TAP1) gene.  A family-based association method revealed biased transmission of specific alleles from heterozygous parents to affected offspring for the TAP1 gene, as well as for the closely linked LMP2 and LMP7 genes encoding subunits of the immunoproteasome.  No association with vitiligo was found for the MECL1 gene, which encodes a third immunoproteasome subunit and is unlinked to the MHC class II region.  These results suggested a possible role for the MHC class I antigen processing and/or presentation pathway in the anti-melanocyte autoimmune response involved in vitiligo pathogenesis.

Past AVRF Project (2002-2004)

The American Vitiligo Research Foundation funded a project at the University of Florida College of Medicine from 4/1/02 through 2/28/04 ($27,000) entitled “The Role of the CAT Gene in Vitiligo Susceptibility”.  The principal investigator for this study was Wayne T. McCormack, Ph.D.  This project built on previous results by Ph.D. candidate Courtney B. Casp, which demonstrated a genetic association between two candidate genes and vitiligo susceptibility. 

In the AVRF-funded study (2002-2004), gene expression studies were conducted for all of these candidate vitiligo susceptibility genes.  Catalase is an important antioxidant responsible for breaking down hydrogen peroxide.  Our study looked at expression of active catalase in purified vitiligo patient monocytes (white blood cells), and revealed a significantly decreased expression of catalase in the monocytes of vitiligo patients.  We observed no significant difference in the catalase activity of patient and control red blood cells.  We also looked at catalase messenger RNA (mRNA) expression in these same monocytes through semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR).  We found no significantly different expression of catalase mRNA in vitiligo patients compared with normal controls.  Taken together these results suggest that the decrease in vitiligo patient monocytes catalase enzyme activity is not a result of changes in mRNA expression or quantity.  These results support those discovered by Schallreuter and coworkers, who found mRNA expression extracted from keratinocytes and melanocytes from both patients and controls did not show any differences in expression, while catalase activity was decreased in the epidermis of vitiligo patients.  The question remains as to whether the deficiency of catalase enzyme activity in vitiligo patient skin is due to defects in the catalase enzyme itself, or is due substrate inhibition caused by a localized accumulation of hydrogen peroxide from other sources.  Nevertheless, we have observed functional changes in catalase enzyme activity in circulating monocytes of vitiligo patients, which helps to support the genetic association found through our case/control and family-based analyses.

Messenger RNA expression studies of LMP2, LMP7, TAP1 and TAP2 genes did not show alterations in expression of mRNA for any of these genes in monocytes derived from vitiligo patients and normal controls.  However, expression studies of MHC class I revealed decreased expression of MHC class I on monocytes from vitiligo patients, suggesting some alterations in the MCH class I presentation pathway.  The results of this AVRF-funded project demonstrate a possible role for genes involved in immune system regulation, as well as for genes involved in regulating oxidative stress in vitiligo susceptibility.  Thus, the etiology of vitiligo may rely on both autotoxic events in the melanocyte, allowing for increased oxidative stress in the epidermis and inappropriate autoimmune presentation of self-peptides to the immune system.

Current AVRF Project (2006-2008)

The AVRF is currently funding a project entitled “The Role of Genetics in Vitiligo Susceptibility” (Margaret R. Wallace, Ph.D., Principal Investigator) from 6/1/06 through 5/31/08 ($150,000).  Co-Investigators include Wayne T. McCormack, Ph.D., and Ph.D. candidate Deborah M. Herbstman.  The goal of these studies is to test the hypothesis that susceptibility to vitiligo is a complex genetic trait involving a number of genes.  Some of the genes we are investigating are known to be expressed in melanocytes, which may predispose them to self-destruction and/or target them for autoimmune destruction.  Other genes we are investigating are known to be involved in the immune system, which may contribute to the autoimmune response in vitiligo patients.  The long-term goals of this research include determining whether “at risk” individuals can be identified in families with a history of vitiligo, which might influence the choice of strategies for treatment or prevention of vitiligo, and whether novel therapies that might prevent or ameliorate vitiligo can be devised based on an understanding of vitiligo pathogenesis and genetic susceptibility.  In addition, these studies may contribute to an overall understanding of genetic susceptibility to autoimmune disease, given the possible association of vitiligo with other autoimmune endocrinopathies.

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AVRF Milestones

  • Humane Charity
  • Acknowledged in Congressional Record
  • House of Representatives Commendation
  • Yearly Medical/Research/Patient Seminars
  • International Researchers Seminars 2001 and 2004
  • Vitiligo Walk-a-Thons, Skate-a-Thons, Swim-a-Thons, Skip-a-Thons and BBQs
  • First New York Times story to detail life experiences of patients
  • Medical Newsletters
  • Informational Patient Website
  • Patients lobby in Tallahassee to raise House and Senate Awareness
  • New York, New Jersey, Florida, Washington, California and various other locations for Walk-a-Thons to raise public and media awareness
  • First Nairobi/Kenya Chapter Awareness Seminar held by AVRF for Kenyan members
  • First NBUVB (Narrow Band Ultraviolet B Light) machine gifted to Kenyatta National Hospital for free patient treatments
  • Research Funding to:
    • Cornell Medical Center (Weill Medical Center)
    • University of Florida, College of Medicine, Gainesville, Florida
  • Role of Catalase Gene, Dr. Schallreuter, University of Bradford, UK
  • Public Service Announcements (PSAs) throughout Florida, New York, New Jersey and Connecticut
  • Billboards throughout Florida
  • Children's Dream Program. Children have met:
    • Whoopi Goldberg (actress)
    • Torii Hunter (athlete)
    • Governor Jeb Bush (FL)
    • Buccaneer football team
  • 48 National and International Patient Support Chapters, serving local communities
  • National NAACP recognition
  • Convention Awareness Exhibitors, NAACP and AAD
  • UF DR. GATOR
  • AVRF Kids Pay It Forward
  • 2016: 9 Reasons Why Your Skin is Changing Color
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Research Programs

UNIVERSITY OF FLORIDA VITILIGO GENETICS STUDY

2008 PROGRESS REPORT

2007 PROGRESS REPORT

"The Role of Genetics in Vitiligo Susceptibility"
June 1, 2006-May 31, 2007

RESEARCH STATEMENT 2007

Margaret R. Wallace, Ph.D. 
Dept. of Molecular Genetics & Microbiology

Wayne T. McCormack, Ph.D. 
Dept. of Pathology, Immunology & Laboratory Medicine

University of Florida College of Medicine
Gainesville, FL 32610

Click here for more information

 

* This is a resource listing of Research Programs and Clinical Trials going on.  If you are looking for participants, volunteers, or blood and tissue samples, and you would like to have your vitiligo study or trial listed here, please send your information to This email address is being protected from spambots. You need JavaScript enabled to view it..

The American Vitiligo Research Foundation, (AVRF) does not in any way warranty, endorse or maintain any responsibility for the research or clinical studies listed here.  Those participating or volunteering in these programs or trials do so of their own accord.