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.

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.

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:

• Unique pattern for SCN2A group related to slower rhythms (delta and theta)
  • -IEE SCN2A participants (likely LOF) had the most delta and theta rhythms 
  • +IEE SCN2A participants (likely GOF) had greater delta and theta relative to autism and neurotypical control groups
• Alpha rhythms were greater for +IEE SCN2A participants
• Beta rhythms were different for SCN2A groups
  • -IEE SCN2A participants (likely LOF) had more beta than an autism group with average IQ
  • +IEE SCN2A participants (likely GOF) had more beta than autism and neurotypical groups

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. 

Next steps:

1. We are hoping to add a few more families to the study, as soon as our university resumes permission for off-campus research. Be on the look out for more details as Dr. Hudac plans a COVID-safe, 1-woman research road trip in Summer and Fall of this year! 
2. We want to keep working to think through how SCN2A biomarkers may help separate between the two different presentations. We are working to learn more about resting state in the context of other populations with epilepsy.
3. This summer, graduate student Nicole Friedman, will be completing our analyses and preparing these data for publication. We will update as these results are finalized!  

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:

• Seek out WTF mentees that might need support. Don't wait for them to seek you out. Host an open call and explicitly state your intentions to support underrepresented groups, including WTF scientists. 
• Be a true support to your mentees. Ask about hesitancies, anxieties, and concerns in professional settings. Provide an open space to talk and address these concerns. Help with networking. 
• Learn about WTF resources to share with mentees. For instance, the Association for Women in Science has specific resources for being more inclusive,  how to train our future leaders, regularly updated historical WTF scientists, and many many more cool resources.
• Evaluate your syllabus. How many female scientists are represented? Struggling to find female theorists in your area? Make room in your classroom to explicitly discuss this.
• Extend special support to trans* and femme scientists. The academic experience can be really difficult (learn from this amazing article by Leon Tsai).
• Hand-write a thank you card. It's really about that personal touch.
• Learn about the issues for women in science and scholarship. For instance, this article reviews 8 ways to support women and includes basic steps such as, Stop harassing WTF scientists, Listen and be an active advocate, and Review policies and incentives for WTF scientists.

We asked some of our fabulous WTF scientists and collaborators to share their thoughts and their favorite inspiring quotes. 

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! 

​Hi everyone!

I'm Nicole and I am a first year graduate student in the B-RAD lab. Starting grad school during a pandemic has certainly had its challenges, but I am so excited to be here at UA and working in the B-RAD lab. 

I'm super excited about our current projects, and I am looking forward to the semester ahead! I'm currently really interested in social motivation and I am collaborating with colleagues here at the CYDI on a systematic review aiming to explore social motivation trans-diagnostically and disentangle it from other related constructs. In addition, we are working hard to collect a battery of EEG and eye-tracking tasks related to social motivation in adults.

We also have a new grant starting this semester focused on delineating cognitive processes involved in social attention. We are super excited for this project to get underway and look forward to seeing kids and families again. 

Keep an eye out for updates on the lab and our upcoming projects as we ramp up data collection this semester! 

We are getting ready to relaunch our research after stopping human subject work due to COVID-19 precautions. Here is what we are working on:

1. Step 1: Safety plan.  We made a comprehensive safety plan describing our strategies to reduce COVID-19 risks. You can find information regarding our safety plan on the COVID-19 page.
2. Step 2: University approval. We have submitted this plan to the University of Alabama for approval. We are not 100% certain about how long this will take, but our colleagues are working very hard to help us in this process.
3. Step 3: Schedule visits when safe. We will work with families to determine an optimal research visit plan. We will follow state and local guidance about out-of-state travelers and will carefully monitor COVID-19 numbers. It's ok if we have to reschedule last minute due to increasing concerns -- we'll be very flexible! 

If you are (still) interested in participating in the BioGENE study, we would appreciate if you would fill out this survey so that we can learn about your own personal concerns and begin to think through logistics. 
BioGENE_Study_COVID

Can't wait to see everyone! We are thinking about you and hope you are doing well
-Dr. Hudac & the B-RAD Lab

Hi everyone! 
It took a pandemic, but we finally made some pretty cool updates to our website. Check out:

• Our welcome video on the Home page for a brief overview of what we do here in the B-RAD Lab
• Our new Projects & Goals page to learn about the scientific goals of our studies
• We also feature our upcoming COVID-19 protocols that will be implemented once we receive approval from the University of Alabama to restart our research
• Meet our newest (and first!) graduate student, Nicole Friedman! Spoiler alert: There's an exponential increase in Steelers cheer in the B-RAD lab 
• Are you thinking about graduate school with Dr. Hudac as a mentor? She will be reviewing applications for this upcoming cycle! Check out the Prospective Graduate student page to learn more 

Are you an undergraduate student interested in becoming involved in research? We are getting closer to starting our intern program for the year (and beyond). Let the B-RAD Lab know you are interested in serving as an intern by filling out the application on our Prospective Intern page.  

We know these past few months have been tough. We are thinking of all of you out there and wishing you well! Hope to see you soon.

-The B-RAD Lab

The B-RAD Lab has minted its newest members! 
The interns are starting to learn the lay-of-the-land -- which has included meeting everyone, learning about the basic structure of the lab, and jumping into working with the EEG equipment. Dr. Hudac is incredibly impressed with the B-RAD team! They are asking all sorts of great questions and soaking up a ton of information. 

Check out the People page to meet our interns and learn some fun facts about each member!

In early August 2019, Dr. Hudac presented at the 3rd Annual SCN2A Family and Professional Conference in Seattle, WA.  Watch her talk on "Human Brain Markers in SCN2A" below and check out more of the talks on the FamiliesSCN2A Website.

Welcome back to campus, students!
We are a brand new research lab, the Brain Research Across Developmental Laboratory (B-RAD) and will open in August 2019. We use a variety of brain and behavior techniques to learn about how individuals think about other people. 

We are looking forward to meeting you -- let us know if you are interested in:

• Learning about brain development or how electrophysiological research is conducted. We will have several seminars and trainings throughout the school year. Priority will be granted to research team members and interns, but check back to RSVP for events! 
• Participating in a brain research experiment -- likely starting in October!
• Joining the B-RAD lab as a volunteer intern (undergraduate, high-school student). Check out our intern page here.
• Joining the B-RAD lab as a graduate student. Dr. Hudac will be accepting students to start in the Fall 2020. Contact her for more information -- and be sure to share  your research interests!