Our first LEDGE workshop of the second session went off without a hitch! We had eight incredibly smart middle school (and some rising high school) students join us for an introduction to genetics. When I say that these kids are gene-iuses, I truly mean it! We began by discussing if certain traits and habits were genetic. It brought about a great debate about what it means for something to be genetic. Many thought that if something was done out of habit, there was no genetic component, as with the way you cross your arms. Some also believed that if you did not have any control over the outcome, it was a genetic characteristic, like whether or not you have dimples. Just like last session, these students learned the number one response in genetics: it depends! Some traits may have a gene, or several, associated with them, but often can be changed as a result of environmental factors.
Another important conversation we had was the difference between the terms “genetic” and “hereditary.” Students went back and forth with one another to determine what the definition of each was. They came to the conclusion that something being “genetic” simply means that whatever it is has to do with your DNA, whereas “hereditary” means that the trait, feature, etc. will be passed down from parent to offspring. Not everything that is genetic is heritable, but things that are heritable are genetic… Confusing, I know.
“Students learned that eye color is polygenic; some even knew that brown eyes are caused by a build up of melanin”
We also went around the room to share some polygenic traits and multifactorial diseases that people could think of. Students learned that eye color is polygenic, and some even knew that having brown eyes was due to a build up of melanin. How did they get so smart?? They mentioned traits like height and hair texture and diseases like cancer and diabetes which fall into these categories.
“Each student got a ton of DNA – great saline-swooshing skills, kids!”
Next up was DNA extraction, which most students had not done before. Each scientist learned a bit about the different steps of DNA extraction, like what protease does and what a centrifuge is used for. In between incubation periods, we had the opportunity to also talk a bit about the structure of DNA. DNA is made up of four bases – adenine, thymine, guanine, and cytosine. The nucleotides of DNA are held together by phosphodiester bonds (say that three times fast!) to make a whole strand and two strands of DNA are held together by hydrogen bonds between the bases of each strand. All of this comes together to make a DNA molecule in the shape of a double helix. The students knew so much and were still excited to learn more, my favorite part! Once all the incubation steps were complete, we stained our DNA and were able to see it as white clumps in our tube. Each student got a ton of DNA – great saline-swooshing skills, kids!
We wrapped up our first workshop by chatting with Nicole Pauloski, a research associate in the O’Neill Lab at UConn. Nicole shared her experiences traversing between various disciplines, whether it be biotechnology, genetics, you name it. She spent some time following her master’s degree working in industry, but eventually realized she wanted to give back to students. So, Nicole began working in a cytogenetics laboratory in Storrs which also afforded her the opportunity to be a professor for some graduate courses. With an incredibly diverse background, Nicole demonstrated to the students that there are so many ways to combine your passions, so never feel stuck in one place because there is always something new and exciting that could come next!
Our Last Time ~Exercising~ Our Brains in Session One!
Sadly, our first LEDGE session wrapped up on Saturday, but it was a fun day to explore performance and exercise genetics! Dr. Amanda Zaleski, an exercise physiologist at Hartford Hospital and a former Husky, shared a bit about how she landed in her career and what she studies now. She pointed out to students an important point – what you think you want to pursue as a career right now may not be what you end up doing. Dr. Zaleski wanted to be a forensic scientist but, after some experience in the field, she decided to pursue kinesiology and exercise genomics. In this field, she studies how someone’s strength, hydration levels, and blood biomarkers (among other things) change when a person exercises with a certain genotype.
To make her case, she shared a video based on a study that linked exercise with positive outcomes in Alzheimer’s disease patients. Dr. Zaleski also shared an interesting study performed at Hartford Hospital on marathon runners. Some runners, seemingly in peak physical condition, become very sick after running a marathon. The cause? These athletes have the rare genetic condition Factor V Leiden, which increases a person’s risk of developing a blood clot. This study at Hartford Hospital showed that if marathon runners wore compression socks while racing, it lowered their risk of developing a blood clot. A huge feat for performance genetics!
“Vissy, a midfielder on the UConn Women’s Soccer team, and David, a member of the UConn Track and Field Team, shared a bit about their training regimens”
After hearing about factors that impact an athlete’s performance, students had the opportunity to hear from two elite athletes themselves! Vissy, a midfielder on the UConn Women’s Soccer team, and David, a member of the UConn Track and Field Team, shared a bit about their training regimens and the different aspects of fitness they had to develop to become elite, such as strength, endurance and stamina. They also discussed a bit about their lives as student athletes and how to effectively balance work and play (literally!). Thanks for coming Vissy and David!
“Students modeled their athletes after ones they admired, like swimmers and American Ninja Warriors.”
We rounded out our final workshop with students “Building their Best Athlete” which consisted of using genetics databases to find genes and variants that one may find in a high-performing athlete. Students chose to model their athletes after ones they admired, like swimmers, rowers, and even American Ninja Warriors. These young scientists believed that certain athletes need an active version of the ACTN3 gene for enhanced muscle strength or a certain polymorphism in the PPARA gene to improve endurance. Many students found out how tedious database searching can be but also how useful it is having all your information in one place!
“Our first LEDGE session was a success in my eyes, with high hopes that all in attendance had a fun time while also learning a bit along the way!”
Our first LEDGE session was a success in my eyes, with high hopes that all in attendance had a fun time while also learning a bit along the way! Big shout out to all of my wonderful professional women in genetics and volunteers who came out to assist this month. I can only hope my August workshops with middle school students are just as fun!
Our second LEDGE workshop was very exciting! With thirteen kids in attendance, Maria Guyre, a genetic counselor, shared a bit about a day in her life. Maria explained why a family or person may seek out genetic counseling, whether it be due to a condition they don’t want to pass on to their child or they are displaying symptoms associated with a known genetic disorder. She then went on to discuss how someone can become a genetic counselor, starting with getting your undergraduate degree all the way to exploring and applying to master’s programs. Maria highlighted the high job satisfaction rate for genetic counselors and, with an increased need for more to enter the field, job prospects look promising. The key takeaway from our discussion was that genetic counseling is a diverse career with many fields and positions available, so you will never get bored!
“The key takeaway from our discussion was that genetic counseling is a diverse career with many fields and positions available.”
We then went through some case studies that put the students in a genetic counselor’s shoes. We talked about things a doctor may see on an ultrasound that would prompt the need for a genetic counselor, such as an omphalocele, to what noninvasive prenatal screening (NIPS) is and who may be able to use it. Genetic counseling is not only for parents looking to conceive – you can seek genetic counseling for cancer, adult abnormalities, and even neurological conditions. We also went over some of the ways someone may be tested for a genetic condition, whether it be through sequencing, Southern blot, or, as we learned in this week’s dry lab session, karyotyping.
Some students had normal human karyotypes with no abnormalities, while others may have had trisomy 21 or Klinefelter’s syndrome. Other students were (un)fortunate enough to have to piece together a chimpanzee karyogram. The point of this exercise was not only to teach students about karyotyping, but to highlight the similarities between us and other primates.
“Other students were (un)fortunate enough to have to piece together a chimpanzee karyogram.”
A chimp chromosome 5 looks a lot like a human chromosome 6, and their chromosome 1 looks just like ours except flipped upside down. The students agreed that the work was tedious, however it was definitely a good insight into a diagnostic genetics’ technique.