Lessons in History, Hope and Living with Lynch Syndrome from the “Daughter of Family G”

Lynch Syndrome is the autosomal dominant hereditary predisposition to develop colorectal cancer and certain other cancers. This simple, one sentence definition seems woefully inadequate considering the human toll this condition has inflicted on the families that have it in their genetic pedigree.

They Called it a Curse

To one family, perhaps the family when it comes to this condition, Lynch Syndrome has meant heartache and hope; grief and joy; death and life. Their story is told by Ami McKay in her book Daughter of Family G, and it is at once both a memoir of a Lynch Syndrome previvor (someone with a Lynch Syndrome genomic mutation who has not yet developed cancer) and a poignant and honest account of the family that helped science put name to a curse.

“The doctors called it cancer. I say it’s a curse. I wish I knew what we did to deserve it.”

Anna Haab from Daughter of Family G (1)

The scientific community first met “Family G” as the meticulously created family tree, filled with the stunted branches that mark early deaths by cancer. The pedigree was first published in 1913 in Archives of Internal Medicine (2). In the article, Dr. Alderd Warthin wrote: “A marked susceptibility to carcinoma exists in the case of certain family generations and family groups.” In 1925, an expanded pedigree of circles and squares was published in Dr. Warthin’s follow up study in the Journal of Cancer Research (3).  But each circle and square in that pedigree denotes a person. Each line represents their dreams together for the future, and Ms. McKay wants us to know their names: Johannes and Anna, Kathrina, Elmer, Tillie, Sarah Anne (Sally); and—most importantly—Pauline. Because without Pauline there would be no story.

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7 Tips for Creating an Individual Development Plan

Today’s guest blog is written by Jayme Miller, a Human Resources Generalist at Promega, who has some tips for creating an IDP that will help you achieve your goals. Individual Development Plans (IDPs) are common career development tools used in industry, and there has been a push for PhD programs to incorporate career development tools such as IDPs. By creating an IDP, employees and students both have a formal way to communicate their career goals and help them stay on track.

There is one question I am frequently asked by candidates during the interview process—“Is employee development a focus at this organization?” Employees frequently tell me they are looking for employers and opportunities where they will have the ability to learn, grow and develop. While that all sounds great, it is important to have an upfront and transparent discussion about roles, responsibilities and expectations when it comes to employee development.

Many organizations indicate that they have an employee development “program” at their organization, but when they begin talking about their program, they describe their performance management process. Often, they will describe how employees are evaluated and provided feedback from their manager. Feedback is a key component for employee development, but it is up to the employee to use that feedback to create action items that will give them the opportunity to learn and grow.  

Often employees believe that employee development is something provided by companies to employees, that it is something that employers make happen for employees. Good organizations will offer continuous learning opportunities and a feedback culture that allows employees to learn and grow. However, no employee development program will work for an employee who is not fully engaged in their own development and does not take ownership over the process. It is ultimately the employee’s responsibility to ensure they are actively taking the steps to develop within their role and within their organization.  

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Social Distancing: Taking a Lesson from Creatures Big and Small

For many of us, the current SARS-CoV-2 pandemic means working from home. For many, working from home means being away from human companionship that’s normally part of our work lives. While my four-legged office mates are quiet and do not require meetings, they are no substitute for human coworkers.

How about you? In our socially distanced world, do you find strength in the knowledge that others are also self-isolating to stay healthy?

What if I told you that numerous animal species, lobsters to mongoose, ants to mandrills, all practice social distancing to avoid infectious agents? Here are a few examples.

Image of banded mongoose family group.
Banded mongoose family group.
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New Human Pluripotent Stem Cell-Derived Model For SARS-CoV-2 Research

influenza viruses

Months into the COVID-19 pandemic, we still have limited knowledge of the SARS-CoV-2 virus, and no effective treatment or vaccine. A major obstacle for scientists trying to understand the SARS-CoV-2 virus is the lack of appropriate cell models. Most of the studies published so far are based on cancer cell lines or animal models that have been engineered to express the human SARS viral entry receptor—ACE2. However, there are a many limitations to using these as models for studying human virus infection:

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How To Reopen Your Lab With Sustainability In Mind

If you’re preparing to return to the lab for the first time in months, there’s never been a better time to make your lab more sustainable.

Earlier this year, the COVID-19 pandemic forced thousands of labs to temporarily shut down. As restrictions are lifted in many areas, scientists are slowly resuming research. However, reopening a lab after months of closure will require a lot of cleaning and organizing, much like a fresh start. This presents a valuable opportunity to evaluate your lab’s practices and identify ways that you can reduce your environmental impact.

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Promega Leverages Long-Time Experience in MSI Detection with European Launch of CE-Marked IVD Assay for Microsatellite Instability

The genetic abnormality called microsatellite instability, or MSI, has been linked to cancer since its discovery in 1993 (1). MSI is the accumulation of insertion or deletion errors at microsatellite repeat sequences in cancer cells and results from a functional deficiency within one or more major DNA mismatch repair proteins (dMMR).  This deficiency, and the resulting genetic instability, is closely related to the carcinogenicity of tumors (2).

Historically MSI has been used to screen for Lynch Syndrome, a dominant hereditary cancer propensity. More recently, tumors with deficient MMR function have been identified as being more likely to respond to immune checkpoint inhibitor (ICI) therapies (3.). Because MSI can be the first evidence of an MMR deficiency, MSI-High status is predictive of a positive response to immunotherapies such as ICI therapies. (3).

Learn more about MSI in this short animation.
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A Valuable AP Biology Throwback

Today’s blog is written by guest blogger, Isobel Utschig, a science teacher at Dominican High School in Whitefish Bay, WI. We bring this to you in celebration of #TeacherAppreciationWeek 2020

About 10 years ago, I attended a field trip at the Biopharmaceutical Technology Center Institute with my AP Biology classmates. I felt apprehensive upon seeing the micropipettes and other “foreign” lab supplies on the benchtops. We learned that we would be using enzymes to cut DNA and visualize those different fragments on a gel. I marveled at the glowing streaks and found it incredible that I was looking (albeit indirectly) at real pieces of DNA. As we moved into the genetic transformation activity I was even more intrigued. We opened the tubes of bacteria and added some luciferase DNA, which would allow the bacteria to create a light-producing protein.  We then “heat shocked” the bacteria to coax them to take up these plasmids from their environment looking at the bacteria later, their glow revealed our success. The day flew by and at the end I marveled at all that we had done!

Students from Dominican High School AP Biology busy at work 
during a BTC Institute field trip
Students from Dominican High School AP Biology busy at work
during a BTC Institute field trip

Three years later I joined a research lab at Marquette University. Upon seeing the lab benches full of unfamiliar equipment, the same wave of apprehension came over me. My PI introduced me to the first task: digest a plasmid with restriction enzymes and verify the cut with gel electrophoresis. Memories of the high school field trip flooded my mind as I gripped a micropipette and attempted to nimbly load the wells. While I greatly improved in my skills over the course of the summer, the familiarity I had from my trip to the BTC Institute put me at ease from the beginning.  

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Flexible Automated Purification Solutions For Dealing With Urgent Needs

Implementing a new high-throughput (HT) nucleic acid purification workflow or scaling up an existing workflow presents many unique challenges. To be successful, the chemistry and liquid handler must be perfectly integrated to fit your lab’s specific needs. This involves configuring the instrument deck, optimizing the assay chemistry, and programming the instrument.

When you’re facing a sudden spike in sample throughput demand combined with unprecedented urgency, those challenges can often become overwhelming. Even in times of crisis, Promega scientists are prepared to support labs facing challenges with HT workflows, regardless of your instrumentation platform.

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Targeted Protein Degradation: A Bright Future for Drug Discovery

targeted protein degradation and protacs

Our cells have evolved multiple mechanisms for “taking out the trash”—breaking down and disposing of cellular components that are defective, damaged or no longer required. Within a cell, these processes are balanced by the synthesis of new components, so that DNA, RNA and proteins are constantly undergoing turnover.

Proteins are degraded by two major components of the cellular machinery. The discovery of the lysosome in the mid-1950s provided considerable insight into the first of these degradation mechanisms for extracellular and cytosolic proteins. Over the next several decades, details of a second protein degradation mechanism emerged: the ubiquitin-proteasome system (UPS). Ubiquitin is a small, highly conserved polypeptide that is used to selectively tag proteins for degradation within the cell. Multiple ubiquitin tags are generally attached to a single targeted protein. This ill-fated, ubiquitinated protein is then recognized by the proteasome, a large protein complex with proteolytic activity. Ubiquitination is a multistep process, involving several specialized enzymes. The final step in the process is mediated by a family of ubiquitin ligases, known as E3.

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Reliable DNA Purification from 3D Cell Cultures

Traditionally, scientists have relied on flat, two-dimensional cell cultures grown on substrates such as tissue culture polystyrene (TCPS) to study cellular physiology. These models are simple and cost-effective to culture and process. Within the last decade, however, three-dimensional (3D) cell cultures have become increasingly popular because they are more physiologically relevant and better represent in vivo conditions.

A spheroid of ~1,000 human liver cells. Image provided by Insphero.
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