3 on the 21st: Thoughts That Won’t Leave My Head from the Crnic Institute Research Day

Attending the recent Down syndrome research day was both interesting and encouraging. Over the past few weeks, three takeaways have only grown stronger in my mind. 

1) Down syndrome affects every organ system.

  Two of the eight presenters—both full professors—projected the same striking image from Antonarakis et al. (2020), showing how the effect (gene dosage effect) of the third copy of chromosome 21 extends across all organ systems. Other talks echoed this theme, exploring how the third copy of chromosome 21 alters gene regulation and protein expression throughout the body. When such systems-level disruption begins at the level of the genome, it’s little wonder that scientists see gene editing tools like CRISPR as the most direct route to a biological cure, though ethical and safety considerations may never allow that path for humans. (See here for broader discussion.)

2) “Cross-pollination” between research fields sparks innovation

     One of my favorite talks mentioned an on-going study using a counter-weighted pulley system and a harness typically used for rehabilitation of Cerebral Palsy. The contraption’s design combined four pedestals, the supportive harness, and overhead guide wires reminiscent of those used in experimental neuroscience labs with freely moving rodents. The goal was simple yet transformative: to help young children safely transition to upright movement earlier, mirroring neurotypical developmental timelines.  

     The study reminded me how easy it is for scientists to become siloed, advancing their own field incrementally. Yet, cross-disciplinary borrowing—“research cross-pollination”—often yields the most meaningful breakthroughs. Therapists seem especially gifted at bridging approaches across diagnoses. Perhaps academic science training could explicitly cultivate that same mindset of applied, cross-condition creativity.

3) Lived experience reshapes scientific perspective

     As a neuroscientist, I’ve contributed to studies spanning Parkinson’s disease, ADHD-related reading difficulties, autism, and schizophrenia. My career has revolved around understanding how the brain functions—and sometimes, doesn’t. During graduate school, clinical rotations were intended to connect research with lived human experience, though at the time they often felt like a formality.

     Now, as a caregiver to someone with Down syndrome, I see how essential that grounding really is. Compassion—rooted in day-to-day caregiving—reshapes scientific curiosity. It prompts new questions and deepens one’s commitment to translational research that truly improves quality of life.

     I was able to speak with a few of the scientists throughout the day. I acknowledge that I’m in a unique position where these types of meetings are “home turf” from my years of research. But if you have the chance to attend a talk about a topic that really interests you, go. Will some of it be over your head? Maybe. Will you get a few curious glances because you’re a new face? Possibly. But you will also bring something uniquely valuable: the voice of lived experience. That presence has the power to remind researchers what, and who, their work ultimately affects. As a bonus, you get to embrace curiosity.

References

Antonarakis, S.E., Skotko, B.G., Rafii, M.S. et al. Down syndrome. Nat Rev Dis Primers 6, 9 (2020). https://doi.org/10.1038/s41572-019-0143-7