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Cystic fibrosis (CF), a genetic disease which affects children and young adults, comes with lifelong health complications including digestive problems and persistent lung infections.

A new McMaster University study, which was published in the journal ACS Central Science on Monday, sheds new light on how CF works and, researchers say, could lead to an improved prognosis and better therapies.

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Researchers have identified new biological markers of cystic fibrosis (CF), a genetic disease which affects children and young adults, leaving them with lifelong health complications including digestive problems and persistent lung infections.

The findings, published in the journal ACS Central Science, shed new light on the underlying mechanisms of CF and could lead to improved prognosis and better therapies for a disease which is quite variable, affecting different children in different ways, say researchers.

“There are chemical signatures in sweat that tell us an infant has CF even when they do not exhibit any symptoms,” says Philip Britz-McKibbin, lead author of the study and a professor in the Department of Chemistry and Chemical Biology at McMaster University. “We set out to discover whether there were chemical indicators detected in sweat that could complement the gold standard for CF diagnosis: the sweat chloride test.”

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Newswise — Researchers have identified two new biological markers of cystic fibrosis (CF), a genetic disease which affects children and young adults, leaving them with lifelong health complications including digestive problems and persistent lung infections.

The findings, published in the journal ACS Central Science, shed new light on the underlying mechanisms of CF and could lead to improved prognosis and better therapies for a disease which is quite variable, affecting different children in different ways, say researchers.

“There are chemical signatures in sweat that tell us an infant has CF even when they do not exhibit any symptoms,” says Philip Britz-McKibbin, lead author of the study and a professor in the Department of Chemistry and Chemical Biology at McMaster University. “We set out to discover whether there were chemical indicators detected in sweat that could complement the gold standard for CF diagnosis: the sweat chloride test.”

The test is commonly used in universal newborn disease-screening programs and measures the concentrations of salt.  Elevated sweat chloride confirms that an infant actually has CF.  

But there are some obstacles that complicate clinical decision-making, explains Britz-McKibbin, because sweat chloride can result in ambiguous diagnoses in some borderline cases and does not reveal how the disease might progress for individual patients. 

“Sweat contains lots of information related to human health that researchers have not fully analyzed and we found some unexpected chemicals associated with CF,” he says.

Using a specialized technique developed at McMaster, scientists collected and analyzed sweat samples from infants in CF clinics at the McMaster Children’s Hospital and the Hospital for Sick Children in Toronto.

They identified several unknown chemicals beyond chloride that were consistently associated with babies who had CF, including two different drug and environmental compounds the infants secreted in sweat at much lower concentration levels.  

Testing for these biomarkers could be done in cases in which the chloride sweat test result is unclear, say researchers. The biomarkers also point to other underlying mechanisms that contribute to the progression of CF and could lead to better therapeutic interventions earlier in life.

“The easier it is to detect CF, the earlier it can be diagnosed, and the better people’s chances are at living a longer, healthier life”, says Joanna Valsamis, Chief Healthcare, Research and Advocacy Officer at Cystic Fibrosis Canada. “CF Canada invests heavily in research that aims to improve the lives of people living with CF, and findings such as those from Dr. Britz-McKibbin are crucial to our understanding of the disease.”

In Canada, one in every 3,600 children are diagnosed with CF.  But life expectancy rates have risen dramatically in recent decades with the median age of survival now over 50 years, due to better treatments to improve lung function, better nutrition and lung transplants.  Further benefits are expected with the advent of newborn screening programs that have resulted in early detection.

The research was funded in part by Cystic Fibrosis Canada. Since 1960, CF Canada has invested more than $244 million in leading CF research and care.  

http://www.newswise.com/articles/scientists-discover-biological-markers-which-could-lead-to-better-treatments-for-cystic-fibrosis-patients

Adriana Nori de Macedo first came to McMaster from Brazil in 2012 as a PhD student seeking to study abroad.

In the five years she spent at McMaster, she left an indelible mark, making important research contributions to help improve screening for preventable and genetic diseases – improvements that could one day transform the lives of people around the world.

“I like knowing that I’m doing something that may have an impact on people’s lives,” says Macedo, who graduates this week with a PhD from the Chemical Biology graduate program. “It’s a big motivation for me to do the best research that I can.”

Macedo came to McMaster from São Paulo, Brazil, where she went to university, completing her Master’s degree in analytical chemistry. When the time came to start working on her PhD, she set her sights on studying abroad.

“I decided that I wanted to have an international experience, to learn about university education in another country and improve my English,” she says. “I thought I would be a professor in the future, so I also felt like it would be a good opportunity for me to make more connections and learn more about research and education in a developed country.”

Looking for the right opportunity to pursue her research interests, Macedo sought advice from one of her professors, and was ultimately put in touch with Philip Britz-McKibbin, a professor in McMaster’s Department of Chemistry and Chemical Biology.

“Dr. Britz-McKibbon was coming to Brazil a few months later for a conference,” she recalls. “We had the chance to meet in person – he was very friendly and very welcoming. That’s when I decided I wanted to come to McMaster with him as my supervisor.”

Before long, she arrived in Hamilton and was working with Britz-McKibbin and his research group, applying her expertise in bioanalytical chemistry to multiple interdisciplinary research projects with potentially far-reaching implications for global public health.

Collaborating with epidemiologists at the Population Health Research Institute (PHRI), Macedo played a pivotal role in helping to develop a simpler, and more cost-effective method of analyzing iodine levels in urine to screen for iodine deficiency, the most common cause of preventable intellectual disabilities in children and which can also lead to hypothyroidism, increased risk of cardiovascular disease, depression, as well as some types of cancers.

She also worked with a multidisciplinary team that included clinicians at McMaster and Sick Kids, identifying compounds in infants’ sweat that could help improve the test used to screen for Cystic Fibrosis in newborns. Though her research results are preliminary, her findings could help improve the test and lead to earlier diagnosis of the disease.

“Usually babies who are diagnosed earlier in life have fewer hospitalizations and infections, especially during childhood, so they have better outcomes in general,” she says. “For parents, and the anxiety that comes with not knowing whether their child has a disease or not, I think this would be a great step.”

In addition to her research contributions, Macedo also honed her skills as a teaching assistant, a role she says she enjoyed. She designed a new experiment for an undergraduate chemistry lab course that tied in with her research on iodine nutrition. The experiment demonstrated the importance of continuously monitoring iodine levels in populations and helped students understand how analytical chemistry can impact public health decisions.

Macedo recently returned to Brazil.  She a now postdoctoral scholar at the University of São Paulo, and is continuing to conduct health-related research and work toward her goal of becoming a university professor.

She has taken what she learned at McMaster home with her and says that her time here helped her grow both personally and professionally.

“I’m grateful that I went to Canada, that I went to McMaster,” she says. “I had a great experience.”

By Erica Balch

Link: https://brighterworld.mcmaster.ca/articles/science-grad-i-like-knowing-that-im-doing-something-that-may-have-an-impact-on-peoples-lives/