Life in the 21st century is full of electronic devices and apps purported to make life easier. Many of us can binge watch movies, videos and news on our phones. There are wireless headphones, electric bicycles, self-operating vacuum cleaners, wine in boxes with taps—and so much more.
This life is, however, not without challenges.
In the event that you or yours ends up in the hospital, the stay could be complicated by an unplanned, unwanted and potentially lethal infection.
Did you know that April is Earth Month? While you should be good to the planet every day, this month you should be extra good. Maybe buy it a nice pair of socks or something. Compliment it on its majestic mountains. Or, you could compete to see who can be the best at being nice to the planet, like we’re doing here at Promega with our Green Go Challenge.
It seems that spring has finally come to Southern Wisconsin. The snow has melted. Most days it is warm enough you can go outside without a parka, hat and mittens. The tree buds are starting to swell. And that traditional oracle of spring, the American robin (Turdus migratorius), has been spotted in trees and yards—along with its less friendly cousin, the red winged black bird (Agelaius phoeniceus).
While spring brings the return of migratory birds, it also brings an increase in the number of rescued baby birds flooding into local wildlife rescues and humane societies. When the babies come to these centers, they need a warm, soft, breathable and washable home that resembles the nest they were hatched in.
Lynch Syndrome is a hereditary condition caused by germline mutations that inactivate at least one of the major DNA mismatch repair (MMR) genes. Individuals with Lynch Syndrome have an elevated risk of developing several cancers, especially colorectal, uterine and endometrial. Approximately 1 in 279 individuals in the United States is Lynch-positive, but most people are unaware of their status.
Lynch Syndrome can be diagnosed following screening by microsatellite instability (MSI) analysis or immunohistochemistry (IHC) for the MMR proteins. For some patients, MMR gene sequencing is as easy as an oral “swish.” However, the genetic basis of Lynch Syndrome and its clinical relevancy are relatively recent discoveries. Long before modern sequencing methods simplified testing and diagnosis, a seamstress in Ann Arbor, Michigan correctly predicted her own Lynch Syndrome status based only on her family history. Talking with Dr. Alfred Scott Warthin in the late 19th century, she said that since so many of her family members had died of several specific cancers, she believed that she would follow the same path. Several years later, she unfortunately proved herself right.
Dr. Warthin took interest in the story and began studying the woman’s family. At the time of their conversation, five of her nine siblings had already been diagnosed with uterine, stomach or “abdominal” cancer. Warthin concluded that the family, which he dubbed “Cancer Family G,” did, in fact, have a predisposition to cancer. Warthin and other researchers continued studying the family for several decades. They found that cancers of the colon, uterus and stomach were most common, and that many members of the family were diagnosed at extraordinarily young ages.
In the 1970s, Dr. Henry T. Lynch organized a family reunion for Cancer Family G and subsequently published a report on “Cancer Family Syndrome.” By this time, 95 members of the family had developed one of the expected cancers. Dr. Lynch still didn’t have the technology to determine the molecular basis of the disease, but he noticed that it followed an autosomal dominant inheritance pattern.
In the mid-1990s, three labs simultaneously discovered microsatellite instability and its connection to colorectal cancer. It had been established in bacteria and yeast that inactivating mutations in DNA mismatch repair genes resulted in mutations in microsatellite sequences, so several labs began racing to clone the human homologs of the DNA MMR genes. Within a few months, two labs had cloned the MSH2 gene and found mutations that were present in members of Lynch-positive families who developed cancer.
Around this time, the name “Lynch Syndrome” was adopted to apply to families carrying germline mutations in a gene associated with the condition. Further research established four genes (MSH2, MLH1, MSH6, PMS2) as “Lynch Syndrome Genes,” and researchers began working on guidelines for diagnostic testing (See “The History of Lynch Syndrome” below for further reading).
Today, over two decades later, many researchers are pushing for the adoption of universal tumor screening for Lynch Syndrome. One of the widely recommended screening method is MSI analysis. MSI-H status indicates that certain sections of DNA called microsatellites have become unstable because the major mismatch repair genes that correct errors during DNA replication are not functioning properly. MSI status can influence treatment decisions, based on the 2015 discovery that MSI-H tumors respond well to immunotherapy drugs (1).
It’s also important knowledge for a patient’s family. Lynch-associated cancers are among the most preventable, so individuals who know they are Lynch-positive can work with their healthcare providers to develop robust strategies for prevention and surveillance. As one Lynch-positive mother said to her Lynch-positive son, “Your knowledge is power, and it’s going to keep you healthy and safe.”
The storms of the previous day had moved eastward, leaving in their wake flooded farm fields and saturated roadside wetlands. At dusk, we loaded the Ford Escort wagon and headed south. We bumped along the maze of farm roads intent upon listening for croaks and snores in the night. At one roadside wetland, I heard my first congress of Spadefoot toads. The sound was deafening, invoking everything that a “congress of snoring toads” brings to mind. Around the corner, in a low spot of a corn field, a lone Spadefoot toad called for a mate; he was joined by a rather enthusiastic Copes Gray tree frog and several chorus frogs. The congress down the road provided a rolling bass to these more melodic anurans.
Wetlands exist in many different shapes and sizes and in many different geographies: coastal margins, mountain valleys, beaches and rocky shores, estuarine wetlands where tidal saltwater and freshwater mix, and inland wetlands. Some of them are ephemeral, some of them permanent. Wetlands serve many different functions, from providing habitat and food for plants and animals to offering protection from floods and maintaining water quality. One acre of one-foot deep wetland is estimated to hold 330,000 gallons of water. Coastal wetlands are important for reducing storm erosion by decreasing tidal surge and buffering the wind. In the US alone, this benefit has an estimated value of $23.2 billion dollars each year. Continue reading “Wetlands, Water Quality and Rapid Assays”
Synthetic biology has been in the news a lot lately—or maybe it only seems like it because I’m spending a lot of my time thinking about our partnership with the iGEM Foundation, which is dedicated to the advancement of synthetic biology. As the 2019 iGEM teams are forming, figuring out what their projects will be and how to fund them, it seemed fitting to share some of these stories.
We spend a lot of time looking at history and imagining—”what was it like when…?” As a biologist, I find myself most drawn to stories about the evolution of life. Why does this plant have purplish leaves? How did this species end up in a symbiotic relationship with this other species? How did this animal get to this tiny island 20 miles off the Southern coast of Iceland?
That last one was too specific to be rhetorical, wasn’t it? The volcanic island of Surtsey broke the ocean surface on November 14, 1963, and continued to erupt until June 5, 1967, reaching its maximum size of 2.7 km2 (about the size of Central Park in New York City). At this size, it was large enough to be a good site for biocolonization. Only a few scientists are allowed to visit the island, ensuring that colonization of the island can occur without human interference. Continue reading “Science Visitors Only: Watching Life Grow on a New Island”
In the United States, March means college basketball. “March Madness” brings us the excitement and entertainment of the NCAA college basketball championship tournament. But for a dedicated group of advocates, researchers, patients and families, it means something else entirely. March is colorectal cancer awareness month.
According to the American Cancer Society, colorectal cancer will be the third most frequently diagnosed and the second most deadly cancer in the United States in 2019 (1). Most of those who develop colorectal cancer do not have a family history or genetic connection to the disease. However, in some families, cancer occurs more often than expected. A family history of colorectal cancer can suggest a genetic factor. Continue reading “Colorectal Cancer Awareness Making March About More Than Basketball”
In May 2017, a surprising discovery was made in the woods of Bayfield County, Wisconsin, just about a 5-hour drive north of Promega headquarters. Jonathan Martin, Associate Professor of Forestry at Northland College, was exploring the forest with an ultraviolet (UV) light in search of fluorescent lichen or plant life. What he found instead was a bright pink glow coming from a most unexpected source—a flying squirrel.