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Researchers Making Progress On Causes of Vitiligo

Close up fashion portrait of a african male with white pigmentation caused by vitiligo.

AURORA, Colo. (July 30, 2019) – A pair of new journal articles by researchers at the University of Colorado School of Medicine indicate that both genetic and environmental factors play significant roles in the onset of vitiligo, an autoimmune disease that results in the loss of color in blotches of skin.

The findings also show that while the tools for scientific understanding of the genetic basis of a complex disease like vitiligo have advanced, there are still many other as-yet-unidentified factors that contribute to vitiligo’s onset.

“Vitiligo has been perhaps the easiest of all complex diseases to sort out,” said senior author Richard A. Spritz, MD, director of the Human Medical Genetics Program and professor of pediatrics at the CU School of Medicine. “Through years of previous studies, we have identified what could be called a ‘vitiligo parts list’ of 50 common contributory genes/risk variants.”

Spritz and his co-authors reviewed two types of vitiligo cases – simplex and multiplex. In most instances, vitiligo appears in individuals with no family history of the disease, which are referred to as the simplex cases. In the multiplex cases, there are other family members with vitiligo.

A paper by Spritz and his co-authors in The American Journal of Human Genetics combines the 50 vitiligo common risk variants together to make a vitiligo “genetic risk score,” and then compared the simplex and multiplex cases.

“The paper could be called a first chapter to the ‘vitiligo instruction manual,’” Spritz said. “We found that the vitiligo genetic risk score is higher in the multiplex families than in the simplex cases, and the more affected relatives in the family the higher the risk score. That means that vitiligo in multiplex families and simplex cases is basically the same, but that the families with multiple affected relatives have higher genetic risk. That means that the same treatments probably will be effective in both types of cases.”

Cropped back view of beautiful young European woman with skin condition that causes loss of melanin posing indoors. Slender slim female model in black tank top suffering from vitiligo disorder
A young woman posing who suffers from Vitiligo, an autoimmune disease that results in the loss of color in blotches of skin.

That finding complicates the ability of scientists and physicians who want to predict who might be affected by vitiligo. Simplex cases and multiplex cases seem to mostly involve the same underlying genetic variants, with different patients just having different combinations of genetic risk variants. Such a finding complicates the use of predictive personalized medicine to diagnose and treat complex diseases, Spritz said, because there doesn’t appear to be genetically-defined patient subgroups with different underlying biology who might thus respond differentially to personalized treatments.

In addition to Spritz, the authors of the article are Genevieve H.L. Roberts, a PhD candidate in human medical genetics and genomics at CU Anschutz Medical Campus at the time of writing the article; Subrata Paul, a PhD candidate in statistics at CU Denver; Daniel Yorgov, PhD, assistant professor of applied statistics at Purdue University Fort Wayne; and Stephanie Santorico, PhD, professor and director of statistical programs at the Colorado School of Public Health.

Second article

In the second article, which is published as a letter to the editor in the Journal of Investigative Dermatology, Spritz and his co-authors note that the average age of the onset of vitiligo in patients has changed dramatically over past decades.

“Vitiligo converted from being principally a pediatric-onset to principally an adult-onset disease over the period 1970-2004,” Spritz said. “That is amazing. Our genes haven’t changed over that period of time; altered genes or even gene effects don’t seem to be the cause. This must reflect some beneficial environmental change that somehow delays or reduces vitiligo triggering in people who are genetically susceptible. What was it? We don’t know.”

The authors write that one or more environmental changes seem to have altered triggering of vitiligo and delayed disease onset, with a similar pattern both in North America and in Europe. “While this apparently beneficial change provides an extraordinary inroad to discover vitiligo environmental triggers, the number of potential candidates is enormous,” Spritz and his colleagues write.

Among just a few of the possibilities in the United States: The Clean Air Acts of 1963 and 1970, the Nuclear Test Ban Treaty of 1963, the Water Quality Act of 1969, the establishment of the Occupational Safety and Health Administration in 1970. Globally, sunscreens with sun protection factor ratings were introduced in 1974. Even eating habits may contribute. The authors note that yogurt consumption became more common in the early 1970s, which potentially altered the gut microbiome for many people.

In addition to Spritz, the authors of the letter in Journal of Investigative Dermatology, are Ying Jin, MD, PhD, senior instructor of pediatrics, and Stephanie Santorico, PhD, professor and director of statistical programs at the Colorado School of Public Health.

Guest contributor: Mark Couch, School of Medicine. 

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CU School of Medicine among best medical schools in country

Aerial photo of CU Anschutz Medical Campus

The University of Colorado School of Medicine is listed No. 12 on the primary care rankings of medical schools and No. 30 on the research rankings released today by U.S. News and World Report.

Each year, U.S. News compiles listings of medical schools in these two general categories based on surveys and data reviews of accredited medical schools in the United States. The magazine then assigns rankings to schools using its own criteria to assess the information, which includes peer assessments provided by professionals at other medical schools.

This year, the magazine considered 152 medical schools and 33 schools of osteopathic medicine. Of those 185 institutions, 120 responded and provided the data that U.S. News needed to calculate its rankings.

On last year’s U.S. News listing, the CU School of Medicine was No. 9 for primary care and No. 32 for research.

“The University of Colorado Anschutz Medical Campus is among the best academic medical centers in the country because of the excellent work of our faculty, staff, students, and partners,” said CU School of Medicine Dean John J. Reilly, Jr., MD. “We are continually striving to fulfill the needs of our students, patients, and community by investing in programs, facilities, and people that make our School even stronger.”

The magazine also provides rankings of specific specialties based on ratings provided by medical school deans and senior faculty from surveyed schools. University of Colorado School of Medicine programs that were ranked in the top 10 among were:

  • Family Medicine No. 7
  • Pediatrics No. 6

The School of Medicine’s Physician Assistant Program ranked No. 7 on the magazine’s separate listing of Best Graduate Schools Health Specialties Programs.

Colorado SPH moves up eight places

The Colorado School of Public Health (ColoradoSPH) is ranked No. 23 in the nation, along with nine others, out of 177 Master of public health programs accredited by the Council on Education for Public Health (CEPH), according to the U.S. News rankings.

ColoradoSPH moved up eight places from No. 31 out of 50 schools that were last ranked based on the results of peer assessment surveys sent to deans, other administrators and faculty of accredited public health degree programs or schools. The last time U.S. News ranked schools and programs of public health was in 2014; the public health rankings occur every five years.

The school, which celebrated its 10th anniversary in 2018, is now ranked in the top 25 of all schools in the country offering the Master in Public Health (MPH), and accomplished this within its first decade.

“I am delighted by this new ranking,” said ColoradoSPH Dean Jonathan Samet, MD, MS. “We will continue to move up as we develop new programs and advance our research.”

Guest contributors: Mark Couch, CU School of Medicine; and Tonya Ewers, Colorado School of Public Health

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Surgery workshop will offer skills to doctors in low resource areas

Despite the dangers, more and more physicians are drawn to working in impoverished or strife-torn areas where medical care is rudimentary yet the needs are overwhelming. But few possess the skills to operate under such harsh conditions.

On June 4 and 5, a dozen doctors from around the country take part in the Colorado Humanitarian Surgical Skills Workshop at the Center for Surgical Innovation on the University of Colorado Anschutz Medical Campus.

The Center for Surgical Innovation is a multi-disciplinary training center dedicated to promoting education courses for surgeons around the world. From 2015-2016, it trained over 4,000 surgeons.

Dr. David Kuwayama, a vascular surgeon, has worked with Doctors Without Borders and other humanitarian groups worldwide.

This unique program will teach senior surgical and obstetrics residents how to perform surgery in low-resource environments without high-tech surgical tools. They will learn how to do a craniotomy with a handsaw, hernia repair without mesh and skin grafts using hand blades rather than electrical ones.

“This is the only humanitarian training course for surgical residents in the country,” said David Kuwayama, MD, MPA, a vascular surgeon at CU Anschutz and director of global health in the department of surgery. He has also worked with Doctors Without Borders and other humanitarian groups in developing countries, disaster zones and areas of conflict.

The work is often dangerous. Last October, 30 people were killed at a Doctors Without Borders/ Médecins Sans Frontières hospital in Kunduz, Afghanistan when an American AC-130 gunship opened fire at what they thought were Taliban fighters. Other hospitals supported by the group have been attacked in Idlib, Aleppo, and Hama governorates in Syria, forcing at least three to close down.

But it’s done nothing to quell enthusiasm for humanitarian medical work.

“There is a wellspring of interest now in global health despite the often difficult situations,” Kuwayama said. “More and more people want to make it part of their careers but there are few training opportunities.”

Kuwayama held a pilot program last year with just four senior surgical residents to gauge outside interest. This year, they have increased that to 12 residents. The workshop will be taught by attending physicians from CU Anschutz and will cover general surgery, vascular surgery, orthopedic surgery, neurosurgery and OBGYN.

“While working abroad, I found that American doctors often lack the skills to work in these often tough environments,” Kuwayama said. “Our goal is to provide those skills so they are prepared for whatever the situation calls for.”

What:  The Colorado Humanitarian Surgical Skills Workshop

Where: The Center for Surgical Innovation, University of Colorado Anschutz Medical Campus, Aurora, Colo.

When:  June 4 & 5 from 7:30 a.m. – 5 p.m.

More information: Interested media are invited to attend the lectures. For more information please contact David Kelly, 303-503-7990, david.kelly@ucdenver.edu

 

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