Background

Monogenic disorders are estimated to affect 1/100 people at birth (WHO). They are caused by individual mutations in individual genes that result in non-functional products such as RNA molecules or proteins. In the case of cystic fibrosis (CF), a mutation in an ion-transport protein causes CF patients to have thick, sticky mucus that easily traps bacteria, viruses and other contaminants that can cause disease. Thick mucus is particularly an issue in the lungs where trapped microbes can lead to lung inflammation and infection (Cystic Fibrosis Foundation). In healthy individuals, microbes are not uncommon in the upper and lower respiratory tracts. Usually, microbes are eliminated by little hairs that sweep microbes trapped in free-flowing mucus up and out of the respiratory tract to be coughed up or swallowed (Huffnagle et al., 2016). However, in CF patients thick mucus limits this elimination of microbes, trapping them in the lungs and respiratory tract (Fig. 1).

Figure 1. Comparison of the healthy vs. diseased airway. Buildup of mucus in cystic fibrosis patients changes the respiratory tract environment, allowing pathogens to proliferate. (Huffnagle et al., 2016)

Continue reading “The changing microbiome in cystic fibrosis: a key to diagnosis and treatment?”

(Photo credit flickr user: hudsonthego)

Babies born too soon

Medicine is advancing faster and faster. Babies born at 23 weeks, only 3 weeks past the halfway point of a full term pregnancy, have a 17 % chance of survival, and if they are born just one week later their chances jump to 39% (preemies survival). While there is a greater chance of survival for these babies than ever before, another statistic is also growing, according to the World health organization the number of premature births has increased worldwide. Approximately 15 million babies are be born before 37-week gestation each year, and almost a million of them die as a result. While many of these deaths are tied to lack of medical care in unindustrialized countries where the premature birth rates are extremely high, there are still risk factors for those receiving even the best of care (WHO, 2015). The lungs, brain and digestive tract of premature infants are all underdeveloped, leading to severe and sometimes life long complications; one of these complications is necrotizing enterocolitis. Continue reading “Saving babies, the microbiome’s role in defeating necrotizing enterocolitis”