February 24th is international SCN2A awareness day! This week we recognize the individuals and families affected by SCN2A and share some insights into new science coming out of our lab.
What is SCN2A?
Two different presentations of SCN2A: In the past few years, we have learned more about different possible presentations (which scientists often call "phenotypes") of SCN2A.
What is it like to research SCN2A? Perspectives from our trainees
Wes Ganz, University of Washington: My time as a research assistant began at the SCN2A conference in Seattle, and I could not be more thankful for this opportunity. The SCN2A conference significantly influenced my lens as a researcher. Particularly, I want the science I contribute to be beneficial for the population that is being researched. I have carried this philosophy forward in all research that I am involved in. Whenever working with SCN2A participants and their data, I am constantly reminded of the families and carriers that will potentially benefit from this work. I could not be more grateful to be contributing to this fascinating research and contributing to the SCN2A community.
Nicole Friedman, University of Alabama: For the last few years before starting graduate school at the University of Alabama, I worked as a research assistant at the Fragile X Research and Treatment Center at Cincinnati Children's Hospital. In this role, I had the pleasure of getting to know some of the most amazing FXS kiddos, teens, adults, and many of their extended families. Our team was extremely involved with the National Fragile X Foundation at both the local and national level, so I attended many events hosted by the local family group as well as 2 International Fragile X conferences. I really grew close to so many families and felt honored to be welcomed as a part of their tight knit community. My experience with FXS drew me to the B-RAD Lab at UA, where Dr. Hudac is doing really amazing work in rare genetic populations. I am so excited for the opportunity to work with the SCN2A families and expand my knowledge of genetics in the field of neurodevelopmental disorders. I look forward to supporting SCN2A projects this upcoming summer!
What is it like to research SCN2A? Perspectives from our clinicians
Dr. Eva Kurtz-Nelson, University of Washington: It's an honor to research SCN2A--people with SCN2A events are so resilient, and their family members are committed advocates and research partners. We hope our research will help medical and treatment providers give the best care possible to people with SCN2A.
Tell us about your progress on developing EEG biomarkers.
The COVID-19 pandemic created in obstacle in seeing more participants for our BioGENE study, but we are excited to debut some preliminary results related to our resting state biomarker. We submitted an abstract to the International Society for Autism Research (INSAR) looking at underlying brain responses from resting state EEG. Here, we were looking to see if there are differences across spectral frequencies that reflect varying brain states -- with a special focus of looking more at the differences between loss-of-function (LOF) and gain-of-function (GOF) mutations.
How do we know if a variant is LOF/GOF?: To know for certain whether a person's genetic mutation is LOF/GOF, it is important to identify each variant's function using molecular neuroscience and cellular electrophysiology to test what happens in a neuron. We use scalp electrophysiology , which measures ALL the neurons instead of one at a time. Although many variants have been tested and are known to be LOF/GOF, we do not know the status for ALL of our participants. Instead, we work from the assumption that participants with a presentation of infantile epileptic encephalopathy (+IEE or "with IEE") or other disruptive seizures during early development (<12 months of age) may have a GOF mutation. And those that do NOT have IEE (-IEE) may have a LOF mutation.
Study design: Our participants watched screensaver-like videos while we recorded electrical signals using electroencephalography (EEG) using a wet net with over 120 recording locations. We take the raw signal and extract out information related to overall/broad brain states -- delta (deep sleep, slow rhythms), theta (daydreaming, moderate rhythms), alpha (reflection after a task, fast rhythms), and beta (engagement, fastest rhythms).
Study results: We found that:
What does this mean?: Some of these findings relate to other work characterizing brain states in adults with a more broad or "generalized" epilepsy (for instance, see this study from 2000). It is encouraging that the SCN2A participants have distinct profiles relative to our control groups. To feel more confident in our findings, we will continue to add additional participants to our study.
Today is International Women and Girls in Science Day (link)!
In addition to women and girls, we celebrate trans* and femme (WTF) scientists, who are often overlooked from this conversation. We encourage you to cheer and highlight the accomplishments of WTF scientists in your world! Not just today, but every day. Here are some suggestions:
What does science mean to you?
We asked some of our fabulous WTF scientists and collaborators to share their thoughts and their favorite inspiring quotes.
Breanna Dede (Psychology, UA): One of the most meaningful aspects of being a woman in science is using my position to try to uplift other women. I find myself constantly inspired by the bright and hardworking women around me who have worked to create a seat at the table for me alongside them, and I hope to do the same for other women.
Meagan Heilman (Psychology, UA): Not only am I proud to be a woman in science but I’m also proud of the amazing women who I work with. Seeing us make great accomplishments, encourage each other, and break barriers is one of the reasons I keep pushing myself to be the best scientist I can be.
Dr. Caitlin Hudac (Psychology, UA): My research career in science started in 2007, and scientific conferences were intimidating, especially within neuroscience. It was not until 2017 that I spoke in an all-WTF symposium, which was an empowering experience -- listening to amazing women, sharing my own work, opening discussion. I hope to inspire and encourage the next generations of WTF scientists to be vocal and share their ideas!
Nicole Friedman (Psychology, UA): Being a woman in science means I am able to follow my curiosity and passion for helping others through contribution of ideas and advancement of knowledge. It also has made me realize how essential it is for women to keep advocating for women in all disciplines, especially those that remain male dominated. As a graduate student, I feel fortunate to be surrounded by female scientists as mentors and inspiration. I am also grateful to the strong women who came before me and their unwavering commitment to improving the field and leading to more opportunities for women like myself.
Dr. Jane Goodall (Nominated by Lauren (Koko) Hall; https://www.janegoodall.org/): You cannot get through a single day without having an impact on the world around you. What you do makes a difference, and you have to decide what kind of difference you want to make.
Dr. Marie-Claire King (Nominated by Lauren (Koko) Hall; Genome Sciences at University of Washington): I think there are two keys to being creatively productive. One is not being daunted by one's fear of failure. The second is sheer perseverance.
Dr. Laura Morett (Educational Psychology, UA): I'm deeply appreciative of the impact that my senior and peer mentors have had on my development as a scientist. Thank you to everyone who devotes their time and effort to mentoring women and girls in science!
Cailee Nelson (Educational Psychology, UA): For me what it means to be a woman in science is to push boundaries and create an environment that is more inclusive for everyone. To be a woman in science is to be someone who, everyday, works to ask insightful inquiries about the world while simultaneously breaking stereotypes of who "should" be in science.
Rebecca Revilla (Psychology, UA): To me, being a woman in science means creating a space of belonging for future women scientists, a space where their value and contributions to these fields are truly recognized.
Christina Sargent (Psychiatry, University of Washington): As a young woman who intends on dedicating my life to science, I’ve learned we often have to make our contributions more palatable for those in charge to take us seriously. I hope one day to be in charge so that I can aid in reconfiguring the power dynamics within science myself, creating spaces where contributions are celebrated where merit is earned regardless of race, sex, gender, sexuality, or religion. Everyone deserves their fair shot in this incredible field and many of us do not start from the same place.
Grace Lee Simmons (Psychology, UA): To me, being a Woman In Science means frenzied late night writing, balancing (and occasionally dropping) far more responsibilities than I care to count in any given day, and unparalleled support from my passionate peers.
Today, several B-RAD members attended a fantastic talk by Dr. David Hodge, entitled "The So-Called Tuskegee Syphilis Study, Covid-19, and the Ethics of Trustworthiness". It was compelling to hear about how history that occurred 140 miles from us in Tuscaloosa, AL is still be affecting perceptions of science and health services. Dr. Hodge emphasized that we should be very thoughtful about the name -- instead of scapegoating the subjects in the study, the onus/responsibility should be on the individuals that conducted the study.
You can read a detailed description of the study on the CDC website. A very brief summary: Black men with and without syphilis enrolled in the study, and despite a readily available treatment (penicillin), the researchers did not offer it to the study participants needing treatment. This is a terrible ethical violation and is a failure of the medical community at large.
As Dr. Hodge points out: Trust is intimately connected to history; it's not ahistorical. There are many examples of similar documented events -- J. Marion Sims conducting "research" on enslaved women without anesthesia, cells taken unknowingly from Henrietta Lacks which have lead to medical developments (e.g., HeLa cells) without credit or benefit to her or her family.
There are inequities in treating COVID-19: CDC data indicates upwards of 2-3x of death and hospitalization that of White individuals. In the push to encourage Black individuals to get vaccinated, Dr. Hodge had great words: Be careful not to microwave trustworthiness -- you've got to crockpot it.
Such an important distinction. A crockpot is slow, loving, and consistent. These are all characteristics that are needed to build trust. This is essential for science, for the medical community. It is critical to re-incentivize engagement with real, true, ongoing support from existing systems.
What does this mean to us in the B-RAD Lab? As psychological scientists, we are dedicated to learning about how people function, think, and act. We hope that our efforts will improve treatment outcomes for individuals -- and we're currently specifically targeting children with ASD and/or other related neurodevelopmental disorders. We acknowledge that there are inequities even with our own work and are working to re-establish trust within our local, regional, national, (global!?) communities. We will be developing programs for community outreach and engagement that are separate from our research efforts. Do you have ideas? Feel free to let us know!
Check here for updates and news about the B-RAD Lab.