How Do You Study for a DNA Test?
Week 2 of LEDGE’s second session was of great fun! This week, the student’s learned about genetic testing methods and karyotyping. We started out the workshop with a set of case studies examining what students thought they knew about genetic testing. For example, the students were told that a couple had recurrent miscarriages and asked who they should see to discuss next steps. Among many amazing answers, a fertility specialist and a genetic counselor were the best replies! Students also learned what a genetic counselor does, risk factors that increase the likelihood a child is born with a genetic abnormality, and about all the types of genetic testing that are available.
“…This brought us into a discussion about designer babies, the idea that you can pick out traits that you want in a child such as intelligence or athletic ability.”
One student asked about a type of testing she described as, “genetic testing on an embryo before it is put in the mother’s body.” While I was blown away that a middle school student even knew what this was, I happened to know a little about it from a tenth-grade research project I did (I was a nerd, I know). What she described is known as Preimplantation Genetic Diagnosis (PGD). PGD is used in concert with in vitro fertilization (IVF), an assisted reproductive technology. The in vitro fertilization is performed creating the embryo. This embryo is then tested before it is implanted (hence preimplantation) for any genetic abnormalities (hence genetic diagnosis). This question brought us into a brief discussion about designer babies, the idea that you can pick out traits that you want in a child such as intelligence, athletic ability, and hair color. I kindly reassured the students that there are regulations in place that limit the use of technologies such as PGD for only purposes necessary to the health of a child. I also highlighted that the thought of designer babies was born out of the public’s lack of genetic literacy and understanding of impact, emphasizing the need for their participation in LEDGE!
We then moved into the next phase of the workshop: karyotyping. The students learned quickly how time consuming and tedious putting together a karyogram can be. Whenever they looked at me with confused and tired eyes, I would share the story of my Laboratory in Cytogenetics class where I would cut out each chromosome by hand and glue it to a paper. Even better, I told the students to imagine the chromosomes clumped together in a bundle, with nearly indistinguishable banding, and trying to do the same thing they were doing under a microscope and for a grade. They quickly stopped complaining and even came to do a great job on their karyograms, with each person correctly completing two!
“…The students learned quickly how time consuming and tedious putting together a karyogram can be”
We wrapped up with a presentation by Dea Gorka, a graduate student in Dr. Stormy Chamberlain’s lab at UConn Health. Her research focuses on Angelman Syndrome, an imprinting disorder caused by a deletion on the maternal allele (or having two copies of a paternal allele and NO maternal allele called uniparental disomy) of the gene UBE3A on chromosome 15. Dea explained how a deletion of this gene on the maternal allele will cause an excitable and hyperactive phenotype with impaired cognitive abilities. In contrast, a deletion of this same gene on the paternal allele (or uniparental disomy of the maternal allele) can cause Prader-Willi syndrome, characterized by an insatiable appetite, temper tantrums, and compulsive behavior. Another disease, 15q duplication syndrome, along with Angelman and Prader-Willi are being studied by Dea and the rest of Dr. Chamberlain’s lab using induced pluripotent stem cells (iPSCs) to understand cellular phenotypes in the different diseases as well as regulation of imprinted gene expression. I can’t wait to see what fun stuff we learn next week with cancer genetics!
Published 7/24/2019 by Kathleen Renna
Michael Phelps for a Day
Our last day of LEDGE in the second session was one to be remembered. We had a great discussion about performance and exercise genetics followed by each student building their best athlete using online resources. Initially, students shared ideas that they believed would contribute to your ability to exercise and how your genotype may affect that. Suggestions they made included strength, endurance, and muscle mass, but we also discussed variables like biomechanics and hydration. It was also a great discussion about what diseases they thought may be affected by amount of exercise. We talked about a particular study identifying aerobic exercise as a mechanism for slowing Alzheimer’s progression, however students talked a great deal about obesity, hypertension, and more. We also talked about the potential to test for genes that improve athletic performance. Just because you have a gene that makes you good at, say, lifting weights, does NOT mean you should drop everything and become a bodybuilder. There are a lot more factors that go into your performance than that!
“…Something everyone learned was how tedious database searching is, but this is one of the skills you need as a geneticist!”
Our young scientists then moved into the Build Your Best Athlete portion of the day where, similarly to the high school students, they used online databases such as GeneCards and Genetics Home Reference to determine genes that may improve athlete performance. Hot genes were ACTN3 and ACE, two genes with variants often found in elite power athletes. One student chose to build a swimmer and found a great article on all of the “weird” variations that Michael Phelps has that make him so insanely good at swimming. His height, wingspan, and a genetic variant that allows him to produce half the lactic acid (the build-up of which leads to soreness in our muscles after exercising) that a normal person does has led him to becoming one of the greatest athletes of all time (read more here). Some other students designed soccer players and hockey stars. One thing that everyone learned was how tedious searching through databases can be, but this is one of the fundamental skills you need as a diagnostic genetic scientist!
We rounded out our session with a great presentation by Lauren Corso, a PhD student in Kinesiology at UConn as well as a former D1 volleyball star during her undergraduate years. She shared a bit about her experiences, showing kids some funny pictures of her when she was little being a giant compared to her peers. Eventually Lauren began playing volleyball, although she was an all-around great athlete (maybe it’s in her genes??) in whatever sport she played. After her athletic career came to a close upon graduation from undergrad, she still highlighted her need to continue in athletic endeavors. So, she picked up rock-climbing (and was naturally good at that too!). At the same time, exercise genetics interested Lauren during her studies at UConn, and so she enrolled in the kinesiology graduate program where she intends to get her PhD.
“…I learned a lot about my interests and how to share genetics information with a wide range of individuals.”
At the conclusion of Lauren’s talk, we all went outside for some much-needed fresh air and a photo shoot. It was great to hear from the students what the highlights of the program were for them and what they were taking away from the experience. It has been an incredible journey for me as well – I learned a lot about my interests and how to share genetics information with a wide range of individuals. I met some brilliant young gene-iuses who are going to leave a great impact on the world as we know it, and I met a lot of great parents who helped shape them as well! Thank you to all who have participated… Til’ next summer!
Published 7/24/2019 by Kathleen Renna
Can I Offer You a Side of Chips?
This week at LEDGE, students learned a bit about cancer genetics followed by a DNA microarray activity comparing normal and patient cells. To start, students answered true or false questions about cancer, learning about viruses that may cause cancer, various risk factors for the disease, and the five main categories of cancer. We eventually got to a question where the students were asked if cancer was a heritable disease… What do you think?
“…students answered true or false questions about cancer, learned about cancer causing viruses, and the five cancer categories.”
Yet again, the students learned that the most common answer in genetics is “it depends.” Some cancer disorders, such as Li-Fraumeni syndrome or Lynch syndrome, are hereditary and can be passed on to offspring. However, most cancers are not hereditary and will not be passed on to your children. That does not mean that cancer is not a genetic disease. Cancer occurs due to a malfunction of one, some, or many genes that leads to one of the six hallmarks of cancer that students learned. These are still genetic mutations making cancer a genetic disease, but most of these mutations will not be passed on to offspring making most cancer cases not heritable. For the cases of cancer that are heritable, the students took some guesses as to how to identify familial cancers. Some correct answers include seeing the same cancer in many family members, having multiple tumor types in the same person at the same time, and getting cancer at an early age.
From here, we moved onto our exercise of DNA microarrays. Students were able to add equilibration buffer, control DNA, and hybridization buffer just like a real microarray protocol. We were even able to look at real microarray chips (hence the title, hopefully you get the pun now!) that have been used in experiments, but we had to imagine them being plugged into a computer to visualize the result. These lovely ladies also had to master the art of patience, as there were several incubation periods. Luckily, I was able to learn a bit about the student’s career goals, which included a vet, cardiothoracic surgeon and a good ole rabbit breeder. I was also fortunate to have Dr. Lisa Brailey, our professional woman in genetics that week, who came prepared with some fun facts about microarrays. One thing that I learned from her was that the person who invented microarrays, Dr. Patrick Brown, was the same person who founded the open access Public Library of Science (PLoS) database as well as the Impossible meat franchise (the burgers that bleed!). After much waiting, our scientists were able to visualize the microarrays under UV light, where they could see the green, yellow, red, and blank spots. The different colors represented different expression profiles of various genes, whether the patient’s gene expression was higher, lower, the same or negligible compared to the control sample. From this, students learned how to interpret array results that may come back from a patient who had their tumor tested, and how the expression differences may represent tumor suppressor genes, oncogenes, or housekeeping genes.
“…If you have a career goal in mind in a particular field or location, try and get there soon and work your way up the ladder by starting closer to where you need to be.”
We wrapped up the workshop with Dr. Lisa Brailey sharing a bit about her life experiences. She was the lab director of a molecular diagnostics laboratory for nine years and is currently searching for new opportunities. Lisa expressed to students the need to start in an area you plan to land in. What she means by this is if you know you have a career goal in mind in a particular field or location, try and get there soon and work your way up the ladder by already starting closer to where you need to be. We thank Lisa for speaking with us and wish her the best in her future career!